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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Tg(Ckmm-cre)5Khn
transgene insertion 5, C Ronald Kahn
MGI:2182095
Summary 106 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cn1
Adipor1tm2Tka/Adipor1tm2Tka
Tg(Ckmm-cre)5Khn/0
B6.Cg-Adipor1tm2Tka Tg(Ckmm-cre)5Khn MGI:4457491
cn2
Fxnem2Lutzy/Fxnem2.1Lutzy
Tg(Ckmm-cre)5Khn/?
B6.Cg-Fxnem2Lutzy Fxnem2.1Lutzy Tg(Ckmm-cre)5Khn/J MGI:5827807
cn3
Nuak1tm1Esu/Nuak1tm1Esu
Tg(Ckmm-cre)5Khn/0
B6.Cg-Nuak1tm1Esu Tg(Ckmm-cre)5Khn MGI:5428916
cn4
Sgcatm2Kcam/Sgcatm2Kcam
Tg(Ckmm-cre)5Khn/0
either: (involves: 129S4/SvJae * 129S6/SvEvTac * FVB) or (involves: 129S6/SvEvTac * C57BL/6J * FVB) MGI:3772354
cn5
Plectm1Gwi/Plectm4Gwi
Tg(Ckmm-cre)5Khn/?
involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6J * FVB MGI:3800799
cn6
Atg5tm1Myok/Atg5tm1Myok
Cnot3tm1.1Kjkb/Cnot3tm1.1Kjkb
Tg(Ckmm-cre)5Khn/0
involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6 * FVB MGI:6151158
cn7
Srftm2.1Nor/Srftm2.1Nor
Tg(Ckmm-cre)5Khn/0
involves: 129P2/OlaHsd * C57BL/6 MGI:3530888
cn8
Bcar1tm2.1Homy/Bcar1tm2.1Homy
Tg(Ckmm-cre)5Khn/0
involves: 129P2/OlaHsd * C57BL/6 MGI:5495141
cn9
Prkcitm1Rfar/Prkcitm1Rfar
Tg(Ckmm-cre)5Khn/0
involves: 129P2/OlaHsd * C57BL/6 * FVB MGI:3721144
cn10
Prkcitm1Rfar/Prkci+
Tg(Ckmm-cre)5Khn/?
involves: 129P2/OlaHsd * C57BL/6 * FVB MGI:3721145
cn11
Cnot3tm1.1Kjkb/Cnot3tm1.1Kjkb
Tg(Ckmm-cre)5Khn/0
involves: 129P2/OlaHsd * C57BL/6 * FVB MGI:6151150
cn12
Abhd5tm1Rze/Abhd5tm1Rze
Tg(Ckmm-cre)5Khn/0
involves: 129P2/OlaHsd * C57BL/6 * FVB MGI:5502413
cn13
Cebpbtm1Nerl/Cebpbtm1Nerl
Tg(Ckmm-cre)5Khn/0
involves: 129P2/OlaHsd * C57BL/6 * FVB MGI:4366867
cn14
Slc7a5tm1.1Daca/Slc7a5tm1.1Daca
Tg(Ckmm-cre)5Khn/?
involves: 129P2/OlaHsd * C57BL/6 * FVB/N MGI:5618526
cn15
Plectm4Gwi/Plectm4Gwi
Tg(Ckmm-cre)5Khn/?
involves: 129P2/OlaHsd * C57BL/6J * FVB MGI:3800798
cn16
Atg7tm1Tchi/Atg7tm1Tchi
Cnot3tm1.1Kjkb/Cnot3tm1.1Kjkb
Tg(Ckmm-cre)5Khn/0
involves: 129P2/OlaHsd * C57BL/6NCrlj * CBA/JNCrlj * FVB MGI:6151152
cn17
Ptentm2Mak/Ptentm2Mak
Tg(Ckmm-cre)5Khn/0
involves: 129P2/OlaHsd * FVB MGI:3619927
cn18
Pik3cgtm1Pngr/Pik3cgtm1Pngr
Ptentm2Mak/Ptentm2Mak
Tg(Ckmm-cre)5Khn/0
involves: 129P2/OlaHsd * FVB MGI:3619937
cn19
Glultm3Whla/Glultm1Whla
Tg(Ckmm-cre)5Khn/0
involves: 129P2/OlaHsd * FVB MGI:4462798
cn20
Glultm3Whla/Glultm3Whla
Tg(Ckmm-cre)5Khn/0
involves: 129P2/OlaHsd * FVB MGI:4462799
cn21
Parltm1Bdes/Parltm1Bdes
Tg(Ckmm-cre)5Khn/0
involves: 129P2/OlaHsd * FVB MGI:6280693
cn22
Pdha1tm1Ptl/Y
Tg(Ckmm-cre)5Khn/0
involves: 129P2/OlaHsd * FVB MGI:3843870
cn23
Pdha1tm1Ptl/Pdha1+
Tg(Ckmm-cre)5Khn/0
involves: 129P2/OlaHsd * FVB MGI:3843872
cn24
Ptentm2Mak/Ptentm2Mak
Tg(Ckmm-cre)5Khn/0
Tg(Myh6-Pik3ca)1Siz/0
involves: 129P2/OlaHsd * FVB MGI:3619942
cn25
Aifm1tm2Pngr/Y
Tg(Ckmm-cre)5Khn/0
involves: 129P2/OlaHsd * FVB MGI:3687267
cn26
Lama2tm1Eeng/Lama2tm1Eeng
Smdt1tm1c(EUCOMM)Wtsi/Smdt1tm1c(EUCOMM)Wtsi
Tg(Ckmm-cre)5Khn/0
involves: 129S1/Sv * 129S4/SvJae * C57BL/6N * FVB MGI:6458049
cn27
Erbb2tm3(Erbb2)Mul/Erbb2tm3(Erbb2)Mul
Tg(Ckmm-cre)5Khn/0
involves: 129S1/Sv * 129X1/SvJ * BALB/c * FVB MGI:2449942
cn28
Mterf4tm1.1Lrsn/Mterf4tm1.1Lrsn
Tg(Ckmm-cre)5Khn/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB MGI:5292478
cn29
Mterf3tm1.1Lrsn/Mterf3tm1.1Lrsn
Tg(Ckmm-cre)5Khn/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB * SJL MGI:3839275
cn30
Tfb1mtm1.1Lrsn/Tfb1mtm1.1Lrsn
Tg(Ckmm-cre)5Khn/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB * SJL MGI:3844252
cn31
Hif1atm3Rsjo/Hif1atm3Rsjo
Tg(Ckmm-cre)5Khn/?
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * FVB/N MGI:3621470
cn32
Mstntm1Mgs/Mstntm1Mgs
Tg(Ckmm-cre)5Khn/?
involves: 129S1/Sv * 129X1/SvJ * CD-1 * FVB MGI:2661075
cn33
Ptpn11tm1Gsf/Ptpn11tm1Gsf
Tg(Ckmm-cre)5Khn/0
involves: 129S1/Sv * 129X1/SvJ * FVB MGI:5906203
cn34
Rr27tm1Kpfe/Rr27tm1Kpfe
Tg(Ckmm-cre)5Khn/0
involves: 129S1/Sv * 129X1/SvJ * FVB MGI:3722124
cn35
Lrpprctm1.1Lrsn/Lrpprctm1.1Lrsn
Tg(Ckmm-cre)5Khn/0
involves: 129S1/Sv * 129X1/SvJ * FVB MGI:5438914
cn36
Dag1tm2Kcam/Dag1tm2Kcam
Tg(Ckmm-cre)5Khn/0
involves: 129S1/Sv * 129X1/SvJ * FVB MGI:2450243
cn37
Esr1tm4.2Ksk/Esr1tm4.2Ksk
Mir22tm1Boet/Mir22tm1Boet
Tg(Ckmm-cre)5Khn/0
involves: 129S2/SvPas * C57BL/6 * FVB MGI:6275157
cn38
Scyl1tm1Spel/Scyl1tm1Spel
Tg(Ckmm-cre)5Khn/0
involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6J * FVB/N MGI:5469974
cn39
Dgcr8tm1.1Blel/Dgcr8tm1.1Blel
Tg(Ckmm-cre)5Khn/0
involves: 129S4/SvJae * C57BL/6 * FVB MGI:4821347
cn40
Insrtm1Khn/Insrtm1Khn
Tg(Ckmm-cre)5Khn/0
involves: 129S4/SvJae * C57BL/6 * FVB MGI:3775309
cn41
Mapk8tm1Jcbr/Mapk8tm1Jcbr
Tg(Ckmm-cre)5Khn/0
involves: 129S4/SvJae * C57BL/6 * FVB MGI:5494712
cn42
Akt1tm2Mbb/Akt1tm2Mbb
Tg(Ckmm-cre)5Khn/0
involves: 129S4/SvJae * C57BL/6J * FVB MGI:5317893
cn43
Insrtm1Khn/Insrtm1Dac
Tg(Ckmm-cre)5Khn/0
involves: 129S4/SvJae * C57BL/6J * FVB MGI:2389586
cn44
Insrtm1Khn/Insrtm1Khn
Tg(Ckmm-cre)5Khn/0
involves: 129S4/SvJae * C57BL/6J * FVB MGI:2389585
cn45
Smdt1tm1c(EUCOMM)Wtsi/Smdt1tm1c(EUCOMM)Wtsi
Tg(Ckmm-cre)5Khn/0
involves: 129S4/SvJae * C57BL/6N * FVB MGI:6458047
cn46
Ptentm1Hwu/Ptentm1Hwu
Tg(Ckmm-cre)5Khn/?
involves: 129S4/SvJae * FVB MGI:4944271
cn47
Slc2a4tm1Abel/Slc2a4+
Tg(Ckmm-cre)5Khn/0
involves: 129S4/SvJae * FVB MGI:3663418
cn48
Slc2a4tm1Abel/Slc2a4tm1Abel
Tg(Ckmm-cre)5Khn/0
involves: 129S4/SvJae * FVB MGI:3663416
cn49
Gt(ROSA)26Sortm1(CAG-GCaMP5)Ryba/Gt(ROSA)26Sor+
Hnrnputm1.1Tman/Hnrnputm1.1Tman
Tg(Ckmm-cre)5Khn/0
involves: 129S4/SvJaeSor * FVB MGI:5829563
cn50
Hnrnputm1.1Tman/Hnrnputm1.1Tman
Tg(Ckmm-cre)5Khn/0
involves: 129S4/SvJaeSor * FVB MGI:5829560
cn51
Pik3r1tm1Lca/Pik3r1tm1Lca
Tg(Ckmm-cre)5Khn/0
involves: 129S6/SvEvTac * C57BL/6 * FVB MGI:3609011
cn52
Pik3r1tm1Lca/Pik3r1tm1Lca
Pik3r2tm1Lca/Pik3r2tm1Lca
Tg(Ckmm-cre)5Khn/0
involves: 129S6/SvEvTac * C57BL/6 * FVB MGI:3609012
cn53
Hjvtm1Kpan/Hjvtm1Kpan
Tg(Ckmm-cre)5Khn/0
involves: 129S6/SvEvTac * C57BL/6 * FVB MGI:5792903
cn54
Nebtm2Hgra/Nebtm2Hgra
Tg(Ckmm-cre)5Khn/0
involves: 129S6/SvEvTac * FVB MGI:5883288
cn55
Aplp2tm1Dbo/Aplp2tm1Dbo
Apptm1.1Zhe/Apptm1.1Zhe
Tg(Ckmm-cre)5Khn/0
involves: 129S7/SvEvBrd * C57BL/6J * FVB MGI:4359072
cn56
Fkbp1atm1Slh/Fkbp1atm1Slh
Tg(Ckmm-cre)5Khn/0
involves: 129S7/SvEvBrd * FVB MGI:5293356
cn57
Fkbp1atm1.1Shou/Fkbp1atm1Zuk
Tg(Ckmm-cre)5Khn/0
involves: 129S7/SvEvBrd * FVB MGI:5490256
cn58
Fkbp1atm1Zuk/Fkbp1atm1Slh
Tg(Ckmm-cre)5Khn/0
involves: 129S7/SvEvBrd * FVB MGI:3521579
cn59
Pnpla2tm1Eek/Pnpla2tm1Eek
Tg(Ckmm-cre)5Khn/0
involves: 129S * FVB/N MGI:5294403
cn60
Fktntm1Kcam/Fktntm1Kcam
Tg(Ckmm-cre)5Khn/?
involves: 129S/SvEv * FVB MGI:5435675
cn61
Igf1rtm1.1Mhz/Igf1rtm1.1Mhz
Insrtm1Khn/Insrtm1Khn
Tg(Ckmm-cre)5Khn/0
involves: 129/Sv * 129S4/SvJae * C57BL/6 * FVB MGI:3775311
cn62
Igf1rtm1.1Mhz/Igf1r+
Insrtm1Khn/Insrtm1Khn
Tg(Ckmm-cre)5Khn/0
involves: 129/Sv * 129S4/SvJae * C57BL/6 * FVB MGI:3775310
cn63
Igf1rtm1.1Mhz/Igf1rtm1.1Mhz
Insrtm1Khn/Insr+
Tg(Ckmm-cre)5Khn/0
involves: 129/Sv * 129S4/SvJae * C57BL/6 * FVB MGI:3775313
cn64
Slc2a4tm1Abel/Slc2a4tm1Abel
Tg(Ckmm-cre)5Khn/?
involves: 129/Sv * C57BL/6 MGI:3029365
cn65
Ptpn11tm1Yan/Ptpn11tm1Yan
Tg(Ckmm-cre)5Khn/0
involves: 129/Sv * C57BL/6 * FVB MGI:3697622
cn66
Igf1rtm1.1Mhz/Igf1rtm1.1Mhz
Tg(Ckmm-cre)5Khn/0
involves: 129/Sv * C57BL/6 * FVB MGI:3775312
cn67
Pdpk1tm1.1Mlw/Pdpk1tm1.1Mlw
Tg(Ckmm-cre)5Khn/?
involves: BALB/c MGI:2677593
cn68
Bud23em2Asil/Bud23em2Asil
Tg(Ckmm-cre)5Khn/0
involves: C57BL/6 * C57BL/6J * DBA/2 MGI:6693480
cn69
Oma1tm1Tlan/Oma1tm1Tlan
Yme1l1tm1Tlan/Yme1l1tm1Tlan
Tg(Ckmm-cre)5Khn/0
involves: C57BL/6 * C57BL/6NCrl * FVB MGI:5805262
cn70
Yme1l1tm1Tlan/Yme1l1tm1Tlan
Tg(Ckmm-cre)5Khn/0
involves: C57BL/6 * C57BL/6NCrl * FVB MGI:5805260
cn71
Cfl2tm1Itl/Cfl2tm1Itl
Tg(Ckmm-cre)5Khn/0
involves: C57BL/6 * C57BL/6NTac * FVB/N MGI:5316089
cn72
Sod2tm1Shs/Sod2tm1Shs
Tg(Ckmm-cre)5Khn/0
involves: C57BL/6CrSlc * FVB MGI:5907992
cn73
Prkab1tm1Grst/Prkab1tm1Grst
Prkab2tm1Grst/Prkab2tm1Grst
Tg(Ckmm-cre)5Khn/0
involves: C57BL/6 * FVB MGI:5293380
cn74
Lig3tm1.1Pmc/Lig3tm1.1Pmc
Tg(Ckmm-cre)5Khn/0
involves: C57BL/6 * FVB MGI:4946937
cn75
Gt(ROSA)26Sortm1(CAG-MAP2K7*/MAPK8,-EGFP)Ftw/Gt(ROSA)26Sor+
Tg(Ckmm-cre)5Khn/0
involves: C57BL/6 * FVB MGI:5494711
cn76
Twnktm1.1Lrsn/Twnktm1.1Lrsn
Tg(Ckmm-cre)5Khn/0
involves: C57BL/6 * FVB MGI:5496891
cn77
Fktntm3.1Ttd/Fktntm3.1Ttd
Tg(Ckmm-cre)5Khn/0
involves: C57BL/6 * FVB MGI:5514355
cn78
Atf4tm1.1Cmad/Atf4tm1.1Cmad
Tg(Ckmm-cre)5Khn/0
involves: C57BL/6 * FVB MGI:5550389
cn79
Txniptm1Road/Txniptm1Road
Tg(Ckmm-cre)5Khn/0
involves: C57BL/6 * FVB MGI:3809846
cn80
Fnip1tm1.1Baba/Fnip1tm1.1Baba
Tg(Ckmm-cre)5Khn/0
involves: C57BL/6 * FVB MGI:5897113
cn81
Cnot1tm1Tya/Cnot1tm1Tya
Tg(Ckmm-cre)5Khn/0
involves: C57BL/6 * FVB MGI:6151160
cn82
Prkab2tm1Grst/Prkab2tm1Grst
Tg(Ckmm-cre)5Khn/0
involves: C57BL/6 * FVB MGI:5293381
cn83
Nsun4tm1.2Arte/Nsun4tm1.2Arte
Tg(Ckmm-cre)5Khn/0
involves: C57BL/6 * FVB/N * SJL MGI:6294482
cn84
Hmox1tm1.1Hes/Hmox1tm1.1Hes
Tg(Ckmm-cre)5Khn/0
involves: C57BL/6J * C57BL/6N * FVB/N MGI:5660650
cn85
Gfpt1tm1c(EUCOMM)Wtsi/Gfpt1tm1c(EUCOMM)Wtsi
Tg(Ckmm-cre)5Khn/0
involves: C57BL/6J * C57BL/6N * SJL/J MGI:6277926
cn86
Musktm1Vwi/Musktm1Vwi
Tg(Ckmm-cre)5Khn/0
involves: C57BL/6J * FVB MGI:3622117
cn87
Crattm1.1Pbrc/Crattm1.1Pbrc
Tg(Ckmm-cre)5Khn/0
involves: C57BL/6J * FVB MGI:5427431
cn88
Musktm1Vwi/Musktm1.1Vwi
Tg(Ckmm-cre)5Khn/0
involves: C57BL/6J * FVB MGI:3622118
cn89
Bmal1tm1.1Shbi/Bmal1tm1.1Shbi
Tg(Ckmm-cre)5Khn/0
involves: C57BL/6J * FVB MGI:5613395
cn90
Gt(ROSA)26Sortm1(CAG-LMNA*)Cyh/Gt(ROSA)26Sor+
Tg(Ckmm-cre)5Khn/0
involves: C57BL/6JNarl * FVB MGI:6407437
cn91
Pik3c3tm1c(EUCOMM)Wtsi/Pik3c3tm1c(EUCOMM)Wtsi
Tg(CAG-EGFP/Map1lc3b)53Nmz/0
Tg(Ckmm-cre)5Khn/0
involves: C57BL/6N * C57BL/6NCrj * FVB/N MGI:5427445
cn92
Fis1tm1.1Itl/Fis1tm1.1Itl
Tg(CAG-EGFP/Map1lc3b)53Nmz/0
Tg(Ckmm-cre)5Khn/0
involves: C57BL/6NCrlj * C57BL/6NTac * DBA/2 * FVB MGI:6444642
cn93
Atg7tm1Tchi/Atg7tm1Tchi
Cnot1tm1Tya/Cnot1tm1Tya
Tg(Ckmm-cre)5Khn/0
involves: C57BL/6NCrlj * CBA/JNCrlj * FVB MGI:6151162
cn94
Tefmtm1.1Lrsn/Tefmtm1.1Lrsn
Tg(Ckmm-cre)5Khn/0
involves: C57BL/6N * FVB MGI:6360162
cn95
Prorptm1.1Afi/Prorptm1.1Afi
Tg(Ckmm-cre)5Khn/0
involves: C57BL/6N * FVB MGI:6282903
cn96
Polrmttm1.1Arte/Polrmttm1.1Arte
Tg(Ckmm-cre)5Khn/0
involves: C57BL/6N * FVB MGI:6147657
cn97
Elac2tm1c(EUCOMM)Wtsi/Elac2tm1c(EUCOMM)Wtsi
Tg(Ckmm-cre)5Khn/0
involves: C57BL/6N * FVB MGI:7433065
cn98
Rexo2tm1.1Arte/Rexo2tm1.1Arte
Tg(Ckmm-cre)5Khn/0
involves: C57BL/6N * FVB MGI:6856855
cn99
Pik3c3tm1c(EUCOMM)Wtsi/Pik3c3tm1c(EUCOMM)Wtsi
Tg(Ckmm-cre)5Khn/0
involves: C57BL/6N * FVB/N MGI:5427444
cn100
Mgme1tm1.1Lrsn/Mgme1tm1.1Lrsn
Tg(Ckmm-cre)5Khn/0
involves: C57BL/6NTac * FVB MGI:6151396
cn101
Fis1tm1.1Itl/Fis1tm1.1Itl
Tg(Ckmm-cre)5Khn/0
involves: C57BL/6NTac * FVB MGI:6444640
cn102
Stk11tm1Keis/Stk11tm1Keis
Tg(Ckmm-cre)5Khn/0
involves: FVB MGI:3580297
cn103
Sod2tm1Shs/Sod2tm1Shs
Tg(Ckmm-cre)5Khn/0
involves: FVB MGI:5907999
cn104
Plrg1tm2Jcbr/Plrg1tm2Jcbr
Tg(Ckmm-cre)5Khn/0
involves: FVB MGI:3848249
cn105
Appl2tm1Smoc/Appl2tm1Smoc
Tg(Ckmm-cre)5Khn/0
involves: FVB MGI:5762817
cn106
Ttntm1Her/Ttntm1Her
Tg(Ckmm-cre)5Khn/0
Not Specified MGI:2651647


Genotype
MGI:4457491
cn1
Allelic
Composition
Adipor1tm2Tka/Adipor1tm2Tka
Tg(Ckmm-cre)5Khn/0
Genetic
Background
B6.Cg-Adipor1tm2Tka Tg(Ckmm-cre)5Khn
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Adipor1tm2Tka mutation (0 available); any Adipor1 mutation (35 available)
Tg(Ckmm-cre)5Khn mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• mice exhibit lower muscle endurance in an involuntary physical exercise test compared with wild-type mice
• in skeletal muscle
• following glucose administration
• following glucose administration
• muscles exhibit decreased insulin sensitivity compared with wild-type mice with decreased glucose disposal and glucose infusion rate
• however, treatment with resveratrol or two weeks of exercise ameliorates insulin resistance while treatment with MnTBAP produces a trend towards amelioration of insulin resistance

cellular
• skeletal muscle exhibits a decrease in mitochondrial DNA content compared with wild-type muscle
• however, treatment with resveratrol, Bay-K 8644 (a calcium-channel opener), or two weeks of exercise increased mitochondrial content
• skeletal muscle cells exhibit a decrease in beta oxidation and an increased in hydrogen peroxide level compared with wild-type cells
• however, treatment with MnTBAP reduces hydrogen peroxide levels

muscle
• soleus muscle exhibit a decrease in type I fibers compared with wild-type muscles

behavior/neurological
• mice exhibit lower muscle endurance in an involuntary physical exercise test compared with wild-type mice




Genotype
MGI:5827807
cn2
Allelic
Composition
Fxnem2Lutzy/Fxnem2.1Lutzy
Tg(Ckmm-cre)5Khn/?
Genetic
Background
B6.Cg-Fxnem2Lutzy Fxnem2.1Lutzy Tg(Ckmm-cre)5Khn/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fxnem2.1Lutzy mutation (8 available); any Fxn mutation (32 available)
Fxnem2Lutzy mutation (3 available); any Fxn mutation (32 available)
Tg(Ckmm-cre)5Khn mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• left ventricular mass is increased as compared to controls by 9 weeks of age

cardiovascular system
• left ventricular mass is increased as compared to controls by 9 weeks of age
• decreased ejection fraction as compared to controls by 7 weeks of age
• decreased fractional shortening as compared to controls by 7 weeks of age
• decreased heart rate by 7 weeks of age
• progressive cardiomyopathy

mortality/aging
• mean survival is 86 +/- days of age

muscle
• decreased ejection fraction as compared to controls by 7 weeks of age
• decreased fractional shortening as compared to controls by 7 weeks of age
• progressive cardiomyopathy




Genotype
MGI:5428916
cn3
Allelic
Composition
Nuak1tm1Esu/Nuak1tm1Esu
Tg(Ckmm-cre)5Khn/0
Genetic
Background
B6.Cg-Nuak1tm1Esu Tg(Ckmm-cre)5Khn
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nuak1tm1Esu mutation (0 available); any Nuak1 mutation (33 available)
Tg(Ckmm-cre)5Khn mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
muscle
N
• no differences are detected in heart or soleus muscle weights and soleus myocyte cross sections are similar to controls on both normal chow and high fat diets
• in soleus muscle cells from mice on a high fat diet glucose uptake is similar to mice on a normal chow diet unlike in wild-type mice where the high fat diet impairs glucose uptake
• in mice fed a normal chow or high fat diet compared to diet matched controls

homeostasis/metabolism
• in mice on a high fat diet, fasting glucose levels are reduced at 13 - 15 and 18-19 weeks of age compared to diet matched controls
• no difference in glucose levels compared to controls is detected in mice on a normal chow diet
• in mice on a high fat diet compared to diet matched controls
• in mice fed a normal chow or high fat diet compared to diet matched controls
• in mice on a high fat diet compared to diet matched controls

cellular
• in soleus muscle cells from mice on a high fat diet glucose uptake is similar to mice on a normal chow diet unlike in wild-type mice where the high fat diet impairs glucose uptake




Genotype
MGI:3772354
cn4
Allelic
Composition
Sgcatm2Kcam/Sgcatm2Kcam
Tg(Ckmm-cre)5Khn/0
Genetic
Background
either: (involves: 129S4/SvJae * 129S6/SvEvTac * FVB) or (involves: 129S6/SvEvTac * C57BL/6J * FVB)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sgcatm2Kcam mutation (1 available); any Sgca mutation (18 available)
Tg(Ckmm-cre)5Khn mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
muscle
N
• conditional mutants fail to develop muscular dystrophy pathology; striated and cardiac muscle show expression of mutant alpha-sarcoglycan, as well as sarcospan
• percentage of fibers with centrally located nuclei are normalized to levels of heterozygous non-transgenic controls

homeostasis/metabolism
N
• serum creatine kinase levels are normalized




Genotype
MGI:3800799
cn5
Allelic
Composition
Plectm1Gwi/Plectm4Gwi
Tg(Ckmm-cre)5Khn/?
Genetic
Background
involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6J * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Plectm1Gwi mutation (0 available); any Plec mutation (100 available)
Plectm4Gwi mutation (0 available); any Plec mutation (100 available)
Tg(Ckmm-cre)5Khn mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
• soleus muscle appears pale at 8 weeks of age and pathological changes are seen at 6 months

mortality/aging
• decreased survival rates starting at 6 months of age

muscle
N
• no abnormal muscle phenotype in early months of life
• extensor digitorum longus is normal at 16 months of age
• focal disorganization of contractile apparatus
• soleus muscle appears pale at 8 weeks of age and pathological changes are seen at 6 months
• detached from the contractile apparatus in the soleus and the diaphragm
• 61% of fibers with focal detachments at 8 weeks
• inner structure of fibers is disorganized
• eosinophylic inclusions are present under the sarcolemma
• numerous necrotic fibers are found in the soleus at 8 weeks
• hypertrophic and split fibers in both the soleus and diaphragm in older mice
• centrally nucleated fibers are present in the soleus at 8 weeks
• at 3 months, 35% of fibers in exercised mice are centrally nucleated (45% at 12 months)
• slight reduction in total number of fibers
• loss of muscle mass observed in some mice at 16 months of age
• atrophic fibers found in then soleus at 1 year

cardiovascular system
N
• no heart pathologies at 12 months
• no dilated or hypertrophic cardiomyopathies at 16 months of age
• increased connective tissue at 16 months of age
• focal disorganization of contractile apparatus

homeostasis/metabolism
• decreased endurance during voluntary wheel running

cellular
• mitochondria lose association with Z-discs of muscle fibers
• mitochondria found in focal aggregates in sarcoplasm and subsarcolemmal regions
• numbers of mitochondria in muscle fibers is reduced
• numerous necrotic fibers are found in the soleus at 8 weeks

behavior/neurological
• decreased endurance during voluntary wheel running




Genotype
MGI:6151158
cn6
Allelic
Composition
Atg5tm1Myok/Atg5tm1Myok
Cnot3tm1.1Kjkb/Cnot3tm1.1Kjkb
Tg(Ckmm-cre)5Khn/0
Genetic
Background
involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6 * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atg5tm1Myok mutation (3 available); any Atg5 mutation (26 available)
Cnot3tm1.1Kjkb mutation (0 available); any Cnot3 mutation (25 available)
Tg(Ckmm-cre)5Khn mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body

homeostasis/metabolism
• impaired autophagosome formation

mortality/aging

cardiovascular system

cellular
• impaired autophagosome formation

muscle




Genotype
MGI:3530888
cn7
Allelic
Composition
Srftm2.1Nor/Srftm2.1Nor
Tg(Ckmm-cre)5Khn/0
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Srftm2.1Nor mutation (0 available); any Srf mutation (16 available)
Tg(Ckmm-cre)5Khn mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Severe runting and skeletal muscle abnormalities in Srftm2.1Nor/Srftm2.1Nor Tg(Ckmm-cre)5Khn/0 mice

mortality/aging
• mutants are born alive and are able to feed but die by P7

behavior/neurological
• starts around P3

growth/size/body
• starts around P3

muscle
• at P3 myofibers are thinner than normal; however, no cardiac abnormalities are seen
• less severe than in homozygous Srf conditional mutants hemizygous for Tg(Myog-cre)1Eno




Genotype
MGI:5495141
cn8
Allelic
Composition
Bcar1tm2.1Homy/Bcar1tm2.1Homy
Tg(Ckmm-cre)5Khn/0
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bcar1tm2.1Homy mutation (0 available); any Bcar1 mutation (16 available)
Tg(Ckmm-cre)5Khn mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
muscle
N
• mice exhibit normal basic skeletal muscle properties and exercise-induced fiber-type transformation




Genotype
MGI:3721144
cn9
Allelic
Composition
Prkcitm1Rfar/Prkcitm1Rfar
Tg(Ckmm-cre)5Khn/0
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6 * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prkcitm1Rfar mutation (0 available); any Prkci mutation (68 available)
Tg(Ckmm-cre)5Khn mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• males and females have more serum lipid than wild-type mice
• serum free fatty acid levels are increased by 40% relative to wild-type mice
• fasting triglyceride levels are increased relative to in wild-type mice
• in a euglycemic clamp assay, mice require a reduced rate of glucose infusion compared to wild-type mice to maintain euglycemia
• in mice fed ad libitum, serum glucose levels are increased
• circulating glucose levels are higher in males than in females
• circulating insulin levels are higher in males than in females
• in mice fed ad libitum, glucose tolerance impairment is comparable to or less severe than in heterozygotes
• in mice fed ad libitum, insulin tolerance is impairment
• in a euglycemic clamp assay, whole-body insulin resistance is accounted for by decreases in insulin-stimulated whole-body glucose uptake and muscle glucose uptake of 25% and 30%, respectively

cardiovascular system
• glucose uptake in heart muscle, basally and during insulin treatment, is reduced

muscle
• glucose uptake in muscle (vastus laterallis and heart), basally and during insulin treatment, is reduced
• insulin-stimulated [3H]2-deoxyglucose uptake is reduced in slow-twitch (soleus) and fast-twitch (extensor digitorum longus) muscles
• glucose uptake in heart muscle, basally and during insulin treatment, is reduced

liver/biliary system
• even on a low-fat diet, hepatostetosis occurs and is more pronounced in heterogyzotes than in homozygotes

adipose tissue
• insulin-stimulated glucose transport is impaired

growth/size/body
• body weight is increased relative to wild-type mice but is less than for heterozygous mice

endocrine/exocrine glands

cellular
• insulin-stimulated glucose transport is impaired
• glucose uptake in muscle (vastus laterallis and heart), basally and during insulin treatment, is reduced
• insulin-stimulated [3H]2-deoxyglucose uptake is reduced in slow-twitch (soleus) and fast-twitch (extensor digitorum longus) muscles
• glucose uptake in heart muscle, basally and during insulin treatment, is reduced




Genotype
MGI:3721145
cn10
Allelic
Composition
Prkcitm1Rfar/Prkci+
Tg(Ckmm-cre)5Khn/?
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6 * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prkcitm1Rfar mutation (0 available); any Prkci mutation (68 available)
Tg(Ckmm-cre)5Khn mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• males and females have more serum lipid than wild-type mice
• serum free fatty acid levels are increased by 90% relative to wild-type mice
• fasting triglyceride levels are increased relative to in wild-type mice
• in a euglycemic clamp assay, mice require a reduced rate of glucose infusion compared to wild-type mice to maintain euglycemia
• in mice fed ad libitum, serum glucose levels are increased
• fasting glucose levels during insulin and glucose tolerance tests is increased by 20% to 25%
• when dietary fat content is increased from 5% to 10% for 2 months, mice exhibit higher glucose levels than in wild-type mice at all time points and during fasting glucose tolerance testing
• in mice fed ad libitum, serum insulin levels are increased
• in mice fed ad libitum, glucose tolerance impairment is comparable to or more severe than in homozygotes
• in mice fed ad libitum, insulin tolerance is impairment is comparable to or more severe than in homozygotes
• in a euglycemic clamp assay, whole-body insulin resistance is accounted for by decreases in insulin-stimulated whole-body glucose uptake and muscle glucose uptake of 25% and 30%, respectively

cardiovascular system

muscle
• insulin-stimulated uptake of glucose and [3H]2-deoxyglucose in vastus laterallis, soleus and extensor digitorum longus, and heart muscles is reduced by 50% to 60% compared to in wild-type mice

liver/biliary system
• even on a low-fat diet, hepatostetosis occurs and is more pronounced in heterogyzotes than in homozygotes

adipose tissue
• insulin-stimulated glucose transport is impaired

growth/size/body
• body weight is increased relative to wild-type mice and homozygous mice
• mice develop an obesity/diabetes syndrome associated with increased food intake

behavior/neurological
• mice consume 20% more regular chow than wild-type mice

immune system
• mice develop an obesity/diabetes syndrome associated with increased food intake

endocrine/exocrine glands

cellular
• insulin-stimulated glucose transport is impaired
• insulin-stimulated uptake of glucose and [3H]2-deoxyglucose in vastus laterallis, soleus and extensor digitorum longus, and heart muscles is reduced by 50% to 60% compared to in wild-type mice




Genotype
MGI:6151150
cn11
Allelic
Composition
Cnot3tm1.1Kjkb/Cnot3tm1.1Kjkb
Tg(Ckmm-cre)5Khn/0
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6 * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cnot3tm1.1Kjkb mutation (0 available); any Cnot3 mutation (25 available)
Tg(Ckmm-cre)5Khn mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• focal with reduced cytoplasmic contents and vacuole formation

growth/size/body

mortality/aging
• all mice die between 3 weeks of age and P30

cardiovascular system
• focal with reduced cytoplasmic contents and vacuole formation

muscle
N
• muscles appear normal
• focal with reduced cytoplasmic contents and vacuole formation




Genotype
MGI:5502413
cn12
Allelic
Composition
Abhd5tm1Rze/Abhd5tm1Rze
Tg(Ckmm-cre)5Khn/0
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6 * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Abhd5tm1Rze mutation (0 available); any Abhd5 mutation (9 available)
Tg(Ckmm-cre)5Khn mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body

mortality/aging

homeostasis/metabolism
N
• mitochondrial fatty acid oxidation and triglyceride hydrolutic activities in skeletal muscle are normal
• mice exhibit normal insulin sensitivity
• in cardiac muscle
• during the light and dark phase
• glucose clearance is enhanced
• in fasted mice
• in re-fed mice
• exercised mice fail to exhibit a decrease in the skeletal muscle indicating a defect in skeletal muscle triglyceride catabolism compared with control mice
• 43-fold in the cardiac muscle of non-fasted mice
• 15-fold in the cardiac muscle of fasted mice
• in non-exercised and exercised mice
• moderate in fasted mice
• marked accumulation of triglycerides in skeletal muscle
• exercised mice fail to exhibit a decrease in skeletal muscle compared with control mice
• in cardiac muscle
• however, in vitro triglyceride hydrolytic activity in skeletal muscle is normal
• mild increase in LPA acyltransferase activity

cardiovascular system
• 43-fold in the cardiac muscle of non-fasted mice
• 15-fold in the cardiac muscle of fasted mice
• septal and posterial wall thickening
• increased 6.7-fold
• however, glucose uptake in skeletal muscle, liver and adipose tissue is normal

muscle
• 43-fold in the cardiac muscle of non-fasted mice
• 15-fold in the cardiac muscle of fasted mice
• increased 6.7-fold
• however, glucose uptake in skeletal muscle, liver and adipose tissue is normal
• marked accumulation of triglycerides in skeletal muscle
• exercised mice fail to exhibit a decrease in skeletal muscle compared with control mice

liver/biliary system
• moderate in fasted mice

cellular
• increased 6.7-fold
• however, glucose uptake in skeletal muscle, liver and adipose tissue is normal




Genotype
MGI:4366867
cn13
Allelic
Composition
Cebpbtm1Nerl/Cebpbtm1Nerl
Tg(Ckmm-cre)5Khn/0
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6 * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cebpbtm1Nerl mutation (0 available); any Cebpb mutation (20 available)
Tg(Ckmm-cre)5Khn mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
N
• mice exhibit normal muscle regeneration in response to treatment with cardiotoxin

muscle
N
• mice exhibit normal muscle regeneration in response to treatment with cardiotoxin




Genotype
MGI:5618526
cn14
Allelic
Composition
Slc7a5tm1.1Daca/Slc7a5tm1.1Daca
Tg(Ckmm-cre)5Khn/?
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6 * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc7a5tm1.1Daca mutation (1 available); any Slc7a5 mutation (19 available)
Tg(Ckmm-cre)5Khn mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
adipose tissue
• increased gonadal fat mass

homeostasis/metabolism
• fasting results in no reduction in intramuscular concentrations of leucine and glutamine as compared to fasted wild-type mice
• intramuscular leucine concentration is not increased after leucine injection
• intramuscular leucine and isoleucine concentrations are increased in relation to increase in dietary protein; in wild-type mice concentrations remain the same
• plasma leucine concentration is unchanged in response to increases in dietary protein
• on a 30% protein diet, leucine, isoleucine and glutamine accumulate at higher levels in muscle relative to wild-type
• mice fed 10%, 20% and 30% protein diets do not exhibit a graded increase in insulin sensitivity as compare to wild-type mice on the same diets
• plasma insulin levels are not significantly different from wild-type in fed state




Genotype
MGI:3800798
cn15
Allelic
Composition
Plectm4Gwi/Plectm4Gwi
Tg(Ckmm-cre)5Khn/?
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6J * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Plectm4Gwi mutation (0 available); any Plec mutation (100 available)
Tg(Ckmm-cre)5Khn mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
• soleus muscle appears pale at 8 weeks of age and pathological changes are seen at 6 months

mortality/aging
• decreased survival rates starting at 6 months of age

muscle
N
• extensor digitorum longus is normal at 16 months of age
• no abnormal muscle phenotype in early months of life
• focal disorganization of contractile apparatus
• soleus muscle appears pale at 8 weeks of age and pathological changes are seen at 6 months
• detached from the contractile apparatus in the soleus and the diaphragm
• 61% of fibers with focal detachments at 8 weeks
• inner structure of fibers disorganized
• eosinophylic inclusions under the sarcolemma
• numerous necrotic fibers in the soleus at 8 weeks
• hypertrophic and split fibers in both the soleus and diaphragm in older mice
• numerous centrally nucleated fibers in the soleus at 8 weeks
• at 3 months, 35% of fibers in exercised mice are centrally nucleated (45% at 12 months)
• slight reduction in total number of fibers
• loss of muscle mass observed in some mice at 16 months of age
• atrophic fibers in soleus at 1 year

cardiovascular system
N
• no heart pathologies at 12 months
• no dilated or hypertrophic cardiomyopathies at 16 months of age
• increased connective tissue at 16 months of age
• focal disorganization of contractile apparatus

cellular
• mitochondria lose association with Z-discs of muscle fibers
• mitochondria found in focal aggregates in sarcoplasm and subsarcolemmal regions
• numbers of mitochondria in muscle fibers is reduced
• numerous necrotic fibers in the soleus at 8 weeks

homeostasis/metabolism
• decreased endurance during voluntary wheel running

behavior/neurological
• decreased endurance during voluntary wheel running




Genotype
MGI:6151152
cn16
Allelic
Composition
Atg7tm1Tchi/Atg7tm1Tchi
Cnot3tm1.1Kjkb/Cnot3tm1.1Kjkb
Tg(Ckmm-cre)5Khn/0
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6NCrlj * CBA/JNCrlj * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atg7tm1Tchi mutation (3 available); any Atg7 mutation (34 available)
Cnot3tm1.1Kjkb mutation (0 available); any Cnot3 mutation (25 available)
Tg(Ckmm-cre)5Khn mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• impaired autophagosome formation

mortality/aging
• mice survive to 7 weeks after birth

cardiovascular system
N
• mice exhibit normal heart weight, cardiac contractility and QT interval

cellular
• impaired autophagosome formation




Genotype
MGI:3619927
cn17
Allelic
Composition
Ptentm2Mak/Ptentm2Mak
Tg(Ckmm-cre)5Khn/0
Genetic
Background
involves: 129P2/OlaHsd * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptentm2Mak mutation (4 available); any Pten mutation (76 available)
Tg(Ckmm-cre)5Khn mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• increased in heart size is detectable in newborns
• seen at 10 weeks and 12 months of age, however do not observe cardiac decompensation or dilated cardiomyopathy

cardiovascular system
• exhibit an increase in the anterior wall thickness, however see no evidence of wall thinning or tissue fibrosis and heart rate is normal
• increase in both the length and width of cardiomyocytes
• increased in heart size is detectable in newborns
• seen at 10 weeks and 12 months of age, however do not observe cardiac decompensation or dilated cardiomyopathy
• exhibit an increase in the left ventricle mass
• decrease in fractional shortening, velocity of circumferential fiber shortening, peak aortic outflow velocity, dP/dT-max and dP/dT-min, indicating impaired contractile heart function
• individual cardiomyocytes display a reduction in contractility as shown by a reduction in percent cell shortening and positive and negative dL/dTs

muscle
• increase in both the length and width of cardiomyocytes
• decrease in fractional shortening, velocity of circumferential fiber shortening, peak aortic outflow velocity, dP/dT-max and dP/dT-min, indicating impaired contractile heart function
• individual cardiomyocytes display a reduction in contractility as shown by a reduction in percent cell shortening and positive and negative dL/dTs




Genotype
MGI:3619937
cn18
Allelic
Composition
Pik3cgtm1Pngr/Pik3cgtm1Pngr
Ptentm2Mak/Ptentm2Mak
Tg(Ckmm-cre)5Khn/0
Genetic
Background
involves: 129P2/OlaHsd * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pik3cgtm1Pngr mutation (0 available); any Pik3cg mutation (37 available)
Ptentm2Mak mutation (4 available); any Pten mutation (76 available)
Tg(Ckmm-cre)5Khn mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• significantly enlarged compared to wild-type and single homozygous Pik3cgtm1Pngr mice
• extent of cardiac hypertrophy is similar to that seen in mice with cardiomyocyte-specific inactivation of Pten

cardiovascular system
• significantly enlarged compared to wild-type and single homozygous Pik3cgtm1Pngr mice
• extent of cardiac hypertrophy is similar to that seen in mice with cardiomyocyte-specific inactivation of Pten
• hearts are hypercontractile as assessed by increased fractional shortening, velocity or circumferential fiber shortening, and peak aortic outflow velocity
• individual cardiomyocytes display increased contractility despite the hypertrophy

muscle
• hearts are hypercontractile as assessed by increased fractional shortening, velocity or circumferential fiber shortening, and peak aortic outflow velocity
• individual cardiomyocytes display increased contractility despite the hypertrophy




Genotype
MGI:4462798
cn19
Allelic
Composition
Glultm3Whla/Glultm1Whla
Tg(Ckmm-cre)5Khn/0
Genetic
Background
involves: 129P2/OlaHsd * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Glultm1Whla mutation (0 available); any Glul mutation (26 available)
Glultm3Whla mutation (1 available); any Glul mutation (26 available)
Tg(Ckmm-cre)5Khn mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• 35% increase in branched-chain amino acids
• muscle glutamine 20-30% lower
• 20% reduction in plasma glutamine in starved mice
• detoxification of ammonia is two fold lower

growth/size/body
• faster weight loss when fasting but only for the first 20 hours




Genotype
MGI:4462799
cn20
Allelic
Composition
Glultm3Whla/Glultm3Whla
Tg(Ckmm-cre)5Khn/0
Genetic
Background
involves: 129P2/OlaHsd * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Glultm3Whla mutation (1 available); any Glul mutation (26 available)
Tg(Ckmm-cre)5Khn mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• faster weight loss when fasting but only for the first 20 hours

homeostasis/metabolism
• 20% reduction in plasma glutamine in starved mice
• muscle glutamine20-30% lower
• 35% increase in branched-chain amino acids
• detoxification of ammonia is two fold lower




Genotype
MGI:6280693
cn21
Allelic
Composition
Parltm1Bdes/Parltm1Bdes
Tg(Ckmm-cre)5Khn/0
Genetic
Background
involves: 129P2/OlaHsd * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Parltm1Bdes mutation (1 available); any Parl mutation (25 available)
Tg(Ckmm-cre)5Khn mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
N
• mice exhibit normal survival

behavior/neurological
N
• mice exhibit normal locomotor skills




Genotype
MGI:3843870
cn22
Allelic
Composition
Pdha1tm1Ptl/Y
Tg(Ckmm-cre)5Khn/0
Genetic
Background
involves: 129P2/OlaHsd * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pdha1tm1Ptl mutation (1 available); any Pdha1 mutation (22 available)
Tg(Ckmm-cre)5Khn mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• when weaned onto rodent laboratory chow, male mice die 7 days after weaning
• when mice are weaned onto a high fat diet, male mice die 12 days after switching from a high fat diet to rodent laboratory chow

cardiovascular system
• compared to in heterozygous female mice and wild-type mice
• whether mice are fed a high fat or laboratory chow diet, the left ventricular diastolic dimension is increased compared to in wild-type mice
• whether fed a high fat or laboratory chow diet, mice exhibit reduced fractional shortening compared to in heterozygous female mice and wild-type mice

homeostasis/metabolism

growth/size/body
• at 9 weeks of age

muscle
• compared to in heterozygous female mice and wild-type mice
• whether fed a high fat or laboratory chow diet, mice exhibit reduced fractional shortening compared to in heterozygous female mice and wild-type mice




Genotype
MGI:3843872
cn23
Allelic
Composition
Pdha1tm1Ptl/Pdha1+
Tg(Ckmm-cre)5Khn/0
Genetic
Background
involves: 129P2/OlaHsd * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pdha1tm1Ptl mutation (1 available); any Pdha1 mutation (22 available)
Tg(Ckmm-cre)5Khn mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• mice exhibit increased heart weight compared to in wild-type mice
• however, heart weight to body weight is normal
• when mice are transitioned from a high fat diet to a rodent laboratory diet, the left ventricular diastolic dimension is increased compared to in wild-type mice
• when transitioned from a high fat diet to a rodent laboratory diet, mice exhibit reduced fractional shortening compared to in wild-type mice

growth/size/body
• mice exhibit increased heart weight compared to in wild-type mice
• however, heart weight to body weight is normal
• at 9 weeks of age

homeostasis/metabolism

muscle
• when transitioned from a high fat diet to a rodent laboratory diet, mice exhibit reduced fractional shortening compared to in wild-type mice




Genotype
MGI:3619942
cn24
Allelic
Composition
Ptentm2Mak/Ptentm2Mak
Tg(Ckmm-cre)5Khn/0
Tg(Myh6-Pik3ca)1Siz/0
Genetic
Background
involves: 129P2/OlaHsd * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptentm2Mak mutation (4 available); any Pten mutation (76 available)
Tg(Ckmm-cre)5Khn mutation (4 available)
Tg(Myh6-Pik3ca)1Siz mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• display a reduction in heart size similar to that seen in single Tg(Myh6-Pik3ca)1Siz mice

muscle




Genotype
MGI:3687267
cn25
Allelic
Composition
Aifm1tm2Pngr/Y
Tg(Ckmm-cre)5Khn/0
Genetic
Background
involves: 129P2/OlaHsd * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Aifm1tm2Pngr mutation (0 available); any Aifm1 mutation (8 available)
Tg(Ckmm-cre)5Khn mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• mice have grossly enlarged hearts at 9 weeks of age
• 9-week old mice show significant increase in heart weight/tibial-length ratios
• male mutants appear normal at 2 months; at 3 months, they display significant weight loss

cellular
• mitochondria display abnormal morphology at 9 weeks but not at 4 weeks of age
• mitochondria display marked cristolysis at 9 weeks but not at 4 weeks of age
• heart muscle has increased number of mitochondria
• lipid peroxidation markers are increased >2.5 fold in 9-week old mutants indicating impaired mitochondrial respiration
• a significant increase in lactate/pyruvate ratio is observed
• complex I respiratory chain complex is reduced to ~50% of control levels in heart and gastrocnemius at 5 weeks of age, while complex III level is ~90% of control in heart and gastrocnemius
• respiratory chain enzyme activities in soleus, gastrocnemium and heart muscle is severely reduced; complex I activity in skeletal muscle and heart is reduced (up to 80%) while complex IV activity in the heart is more mildly reduced at 18 weeks of age
• lipid peroxidation markers (indicators or oxidative stress) are increased >2.5 fold in 9-week old mutants

cardiovascular system
• heart muscle shows pronounced myofibrillar fragmentation and disorganization and increased number of mitochondria
• individual cardiomyocytes are markedly increased in size
• mice have grossly enlarged hearts at 9 weeks of age
• 9-week old mice show significant increase in heart weight/tibial-length ratios
• mutants display severe dilated cardiomyopathy
• detectable by 4 weeks of age and progressively worsens
• significant decrease is shown by decreased percentage fractional shortening, decreased velocity of circumferential fiber shortening and reduced peak aortic outlflow velocity
• also, dP/dTmax and dP/dTmin are reduced significantly
• mutants have significant decrease in ventricular blood pressures

muscle
• heart muscle shows pronounced myofibrillar fragmentation and disorganization and increased number of mitochondria
• individual cardiomyocytes are markedly increased in size
• mutants display severe dilated cardiomyopathy
• detectable by 4 weeks of age and progressively worsens
• significant decrease is shown by decreased percentage fractional shortening, decreased velocity of circumferential fiber shortening and reduced peak aortic outlflow velocity
• also, dP/dTmax and dP/dTmin are reduced significantly
• myofibers from 3-month old mice display irregular contours
• myofiber cross-sectional area is reduced 2-fold in triceps of 3 month old mice vs littermate controls
• male hemizygotes display significant loss of muscle mass at 3 months, becoming detectable at 10 weeks of age compared to littermate controls (Pdcd8-sufficent and non-transgenic hemizygotes)
• muscle degeneration is progressive, becoming detectable at 10 weeks of age; it is most apparent in fast-twitch muscles (gastrocnemium, triceps, quadriceps)
• all skeletal muscles analyzed including triceps, pectoralis, quadriceps, gluteus, and gastrocnemius muscles are significantly atrophied male hemizygotes

homeostasis/metabolism
• plasma lactate levels increase progressively with muscle loss
• a significant increase in lactate/pyruvate ratio is observed
• mutant cardiomyocytes undergo compensatory metabolic switch toward glycolysis, and away from pyruvate utilization as result of impaired mitochondrial respiration
• mutants show significant upregulation of atrial naturietic factor (ANF) and b-type natruietic peptide (BNP)
• at 4.5 months of age, heart and skeletal muscle show significant reductions in catalase activity

behavior/neurological
• loss of muscle mass results makes mice extremely lethargic by 5 months of age




Genotype
MGI:6458049
cn26
Allelic
Composition
Lama2tm1Eeng/Lama2tm1Eeng
Smdt1tm1c(EUCOMM)Wtsi/Smdt1tm1c(EUCOMM)Wtsi
Tg(Ckmm-cre)5Khn/0
Genetic
Background
involves: 129S1/Sv * 129S4/SvJae * C57BL/6N * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lama2tm1Eeng mutation (2 available); any Lama2 mutation (106 available)
Smdt1tm1c(EUCOMM)Wtsi mutation (0 available); any Smdt1 mutation (12 available)
Tg(Ckmm-cre)5Khn mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• as in Lama2tm1Eeng homozygotes

behavior/neurological
• as in Lama2tm1Eeng homozygotes

cellular
• increase in mitochondrial calcium in skeletal muscle fiber as in Lama2tm1Eeng homozygotes




Genotype
MGI:2449942
cn27
Allelic
Composition
Erbb2tm3(Erbb2)Mul/Erbb2tm3(Erbb2)Mul
Tg(Ckmm-cre)5Khn/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * BALB/c * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Erbb2tm3(Erbb2)Mul mutation (0 available); any Erbb2 mutation (43 available)
Tg(Ckmm-cre)5Khn mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• early mortality is observed in severely affected mutants

behavior/neurological
• loss of coordination
• progressive with age, animals rest on abdomen instead of limbs
• mutants often maintain limbs in an abnormal posture, progressing from a flexor to an extensor posture
• progressive with age

craniofacial

growth/size/body

muscle
• an increase in apoptosis is observed in mutant myoblasts infected with adenoviral-cre (to completely obliterate expression) during induced differentiation
• 2 weeks after a muscle crush injury in the tibialis anterior, muscle fibers that have regenerated are not continuous and are interspersed with encapsulated cellular debris

skeleton

nervous system

cellular
• an increase in apoptosis is observed in mutant myoblasts infected with adenoviral-cre (to completely obliterate expression) during induced differentiation




Genotype
MGI:5292478
cn28
Allelic
Composition
Mterf4tm1.1Lrsn/Mterf4tm1.1Lrsn
Tg(Ckmm-cre)5Khn/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mterf4tm1.1Lrsn mutation (0 available); any Mterf4 mutation (9 available)
Tg(Ckmm-cre)5Khn mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• maximal life span is shortened to 21 weeks

cardiovascular system
• gradual accumulation of mitochondria with abnormal morphology in the myocardium from 5 weeks of age onwards
• gradual increase in absolute and relative heart size with age
• levels of assembled complexes containing mtDNA-encoded subunits are decreased from 5 weeks of age onward
• severe respiratory chain deficiency
• severe mitochondrial cardiomyopathy develops from 5 weeks of age onwards

cellular
• severe decrease of in organello translation in the hearts

growth/size/body
• gradual increase in absolute and relative heart size with age
• from 15 weeks of age

muscle
• gradual accumulation of mitochondria with abnormal morphology in the myocardium from 5 weeks of age onwards
• severe mitochondrial cardiomyopathy develops from 5 weeks of age onwards




Genotype
MGI:3839275
cn29
Allelic
Composition
Mterf3tm1.1Lrsn/Mterf3tm1.1Lrsn
Tg(Ckmm-cre)5Khn/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mterf3tm1.1Lrsn mutation (0 available); any Mterf3 mutation (20 available)
Tg(Ckmm-cre)5Khn mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice die by 18 weeks of age

cardiovascular system
• mice exhibit an increase in relative mitochondrial mass in hearts unlike in wild-type mice
• mice exhibit a gradual increase in heart size with abnormal mitochondria unlike in wild-type mice
• mitochondrial

cellular
• steady-state mitochondrial transcription is decreased compared to in wild-type cells
• the enzymatic activity of all mitochondrial complexes in heart tissues is decreased compared to in wild-type mice

growth/size/body
• mice exhibit a gradual increase in heart size with abnormal mitochondria unlike in wild-type mice
• at 16 weeks of age

muscle
• mice exhibit an increase in relative mitochondrial mass in hearts unlike in wild-type mice
• mitochondrial




Genotype
MGI:3844252
cn30
Allelic
Composition
Tfb1mtm1.1Lrsn/Tfb1mtm1.1Lrsn
Tg(Ckmm-cre)5Khn/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tfb1mtm1.1Lrsn mutation (0 available); any Tfb1m mutation (14 available)
Tg(Ckmm-cre)5Khn mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• after 15 weeks

mortality/aging
• at 24 weeks of age

cardiovascular system
• after 10 weeks, mitochondrial mass in cardiomyocytes increases unlike in wild-type mice
• after 15 weeks
• at 15 to 20 weeks, mitochondrial biogenesis in cardiomyocytes is increased compared to in wild-type mice
• at 5 and 20 weeks, respiratory function and mitochondrial ATP production is decreased compared to in wild-type cells
• heart cells exhibit increased mitochondrial transcription but decreased translation compared to in wild-type cells

muscle
• after 10 weeks, mitochondrial mass in cardiomyocytes increases unlike in wild-type mice




Genotype
MGI:3621470
cn31
Allelic
Composition
Hif1atm3Rsjo/Hif1atm3Rsjo
Tg(Ckmm-cre)5Khn/?
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hif1atm3Rsjo mutation (3 available); any Hif1a mutation (35 available)
Tg(Ckmm-cre)5Khn mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
muscle
• increase in muscle damage following exercise

homeostasis/metabolism
• increased serum levels of the MM isoform of creatine kinase 1 day after exercise
• significant decrease in lactate accumulation after exercise
• increased endurance in swim tests and in the first session of running uphill (concentric exercise) but decreased endurance when running downhill (eccentric exercise)
• endurance decreased over 4 consecutive days of daily treadmill running

nervous system
• slight but statistically significant decrease in type IIa fibers in the soleus




Genotype
MGI:2661075
cn32
Allelic
Composition
Mstntm1Mgs/Mstntm1Mgs
Tg(Ckmm-cre)5Khn/?
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * CD-1 * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mstntm1Mgs mutation (0 available); any Mstn mutation (19 available)
Tg(Ckmm-cre)5Khn mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• mutants weigh 23% and 26% more than controls at 2 months and 5 months of age, respectively

muscle
• generalized muscle hypertrophy, resulting in a 'double-muscling' phenotype
• superficial muscle layers exhibit a more severe hypertrophy than the deep layers




Genotype
MGI:5906203
cn33
Allelic
Composition
Ptpn11tm1Gsf/Ptpn11tm1Gsf
Tg(Ckmm-cre)5Khn/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptpn11tm1Gsf mutation (0 available); any Ptpn11 mutation (33 available)
Tg(Ckmm-cre)5Khn mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• 66% increase in heart/body weight ratios

mortality/aging
• mice begin to die within 2 weeks after birth and have a median survival age of 13.4 weeks, with very few living up to 36 weeks

cardiovascular system
• elevation in levels of triglyceride in the heart
• however, no differences in glycogen content of cardiac muscle
• cardiomyocyte capacitance, a measure of cell size, is augmented, with cells showing a 2-fold increase in capacitance
• 66% increase in heart/body weight ratios
• enlarged right and left ventricle chambers with thinner walls
• however, fibrosis, changes in apoptosis or proliferation,or lymphocyte and macrophage infiltration in the heart are not seen
• glucose uptake is impaired in cardiac muscle cells
• decrease in left ventricular fraction shortening and the velocity of circumferential fiber shortening
• enlarged left ventricular chamber size in 6 week old mice, increase in left ventricular internal dimension at end diastole and end systole, and significant wall thinning as evidenced by decrease in systolic dimensions in interventricular septal wall thickness
• however, no change in left ventricular posterior wall thickness is seen
• cardiomyocytes exhibit slower calcium current density (inward current amplitude normalized to cell capacitance)

cellular
• glucose uptake is impaired in skeletal muscle cells
• glucose uptake is impaired in cardiac muscle cells

homeostasis/metabolism
• elevation in levels of triglyceride in the heart
• however, no differences in glycogen content of cardiac muscle
• circulating insulin levels under fed and fasted conditions are slightly increased
• elevation in levels of triglyceride in plasma
• however, no differences in circulating free fatty acids
• glucose intolerance, with the most significant difference seen at 120 min after glucose injection
• males and females show a decreased ability to lower circulating glucose levels after intraperitoneal injection of insulin
• elevation in levels of triglyceride in skeletal muscle
• however, no differences in glycogen content of skeletal muscle

muscle
• elevation in levels of triglyceride in the heart
• however, no differences in glycogen content of cardiac muscle
• cardiomyocyte capacitance, a measure of cell size, is augmented, with cells showing a 2-fold increase in capacitance
• enlarged right and left ventricle chambers with thinner walls
• however, fibrosis, changes in apoptosis or proliferation,or lymphocyte and macrophage infiltration in the heart are not seen
• decrease in left ventricular fraction shortening and the velocity of circumferential fiber shortening
• glucose uptake is impaired in skeletal muscle cells
• glucose uptake is impaired in cardiac muscle cells
• elevation in levels of triglyceride in skeletal muscle
• however, no differences in glycogen content of skeletal muscle




Genotype
MGI:3722124
cn34
Allelic
Composition
Rr27tm1Kpfe/Rr27tm1Kpfe
Tg(Ckmm-cre)5Khn/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rr27tm1Kpfe mutation (0 available); any Rr27 mutation (6 available)
Tg(Ckmm-cre)5Khn mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• maternal allele imprinting is lost
• however, imprinting at the H19 promoter in the paternal allele is normal




Genotype
MGI:5438914
cn35
Allelic
Composition
Lrpprctm1.1Lrsn/Lrpprctm1.1Lrsn
Tg(Ckmm-cre)5Khn/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lrpprctm1.1Lrsn mutation (0 available); any Lrpprc mutation (40 available)
Tg(Ckmm-cre)5Khn mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body

mortality/aging
• mice die before 16 weeks of age

cellular
• increased mitochondrial DNA content
• increased mitochondrial mass associated with a severe cytochrome c oxidase deficiency
• severe cytochrome c oxidase deficiency
• aberrant polyadenyation of mitochondrial mRNA and impaired mRNA stability

cardiovascular system




Genotype
MGI:2450243
cn36
Allelic
Composition
Dag1tm2Kcam/Dag1tm2Kcam
Tg(Ckmm-cre)5Khn/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dag1tm2Kcam mutation (2 available); any Dag1 mutation (96 available)
Tg(Ckmm-cre)5Khn mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• at ~6 weeks, mutant skeletal muscles, including quadriceps, gastrocnemius, tibialis anterior, biceps, gluteus maximus, and diaphragm, display myonecrosis

muscle
• at ~6 weeks, mutant skeletal muscles show loss of dystrophin, dystrobrevin, and the sarcoglycan-sarcospan complex
• during cycles of degeneration, satellite cells are repetitively activated leading to expression of dystroglycan and other components of the DGC in muscle fibers undergoing regeneration
• at ~6 weeks, mutant skeletal muscles, including quadriceps, gastrocnemius, tibialis anterior, biceps, gluteus maximus, and diaphragm, display myonecrosis
• surprisingly, aging mutants develop marked hypertrophy of skeletal muscle fibers
• a >2-fold increase in fiber diameter of the quadriceps and soleus muscle noted at 18 months
• at ~6 weeks, mutant mice show variation of skeletal muscle fiber size
• up to 95% of skeletal muscle fibers exhibit centrally located nuclei
• at 15 months, mutants show a widespread increase in wet muscle weight, esp. in the quadriceps and gastrocnemius muscles, where the weight is doubled
• at ~6 weeks, mutants exhibit hallmarks of muscular dystrophy, such as myonecrosis, central nucleation, and variation of fiber size
• however, despite ongoing cycles of muscle degeneration, aging mutants exhibit only a mild dystrophy with signs of efficient muscle regeneration and marked skeletal muscle hypertrophy but no signs of fibrosis or fat replacement

homeostasis/metabolism
• mutant mice exhibit significant elevation of serum creatine kinase levels

growth/size/body
• at 15 months, mutant mice are significantly larger than control littermates




Genotype
MGI:6275157
cn37
Allelic
Composition
Esr1tm4.2Ksk/Esr1tm4.2Ksk
Mir22tm1Boet/Mir22tm1Boet
Tg(Ckmm-cre)5Khn/0
Genetic
Background
involves: 129S2/SvPas * C57BL/6 * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Esr1tm4.2Ksk mutation (1 available); any Esr1 mutation (47 available)
Mir22tm1Boet mutation (0 available); any Mir22 mutation (3 available)
Tg(Ckmm-cre)5Khn mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• mitochondrial in muscle cells
• however, muscle cells exhibit normal total and extramitochondrial fatty acid oxidation

adipose tissue
N
• mice exhibit normal fat amounts unlike mice homozygous for a knock-out allele of Mir22tm1Boet

growth/size/body
N
• male and female mice exhibit normal body weight

muscle
N
• mice exhibit normal muscle fiber composition and mitochondrial content

cellular
• mitochondrial in muscle cells
• however, muscle cells exhibit normal total and extramitochondrial fatty acid oxidation




Genotype
MGI:5469974
cn38
Allelic
Composition
Scyl1tm1Spel/Scyl1tm1Spel
Tg(Ckmm-cre)5Khn/0
Genetic
Background
involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6J * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Scyl1tm1Spel mutation (0 available); any Scyl1 mutation (14 available)
Tg(Ckmm-cre)5Khn mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
N
• mice exhibit normal gait and motor function

muscle
N
• mice exhibit normal gait and motor function

nervous system
N
• mice exhibit nor signs of neuroinflammation or neurodegeneration




Genotype
MGI:4821347
cn39
Allelic
Composition
Dgcr8tm1.1Blel/Dgcr8tm1.1Blel
Tg(Ckmm-cre)5Khn/0
Genetic
Background
involves: 129S4/SvJae * C57BL/6 * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dgcr8tm1.1Blel mutation (1 available); any Dgcr8 mutation (58 available)
Tg(Ckmm-cre)5Khn mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body

mortality/aging
• all mice die before 2 months of age and median survival is 31 days

cardiovascular system
• at 4 weeks, mice exhibit increased end-diastolic and end-systolic diameters compared with wild-type mice
• in the left and right ventricular wall
• in the ventricular wall at 3 weeks
• at 3 weeks, mice exhibit loss of ventricular function unlike wild-type mice
• at 4 weeks, fractional shortening is reduced in the ventricle compared with wild-type mice
• increased in width

muscle
• at 3 weeks, mice exhibit loss of ventricular function unlike wild-type mice
• at 4 weeks, fractional shortening is reduced in the ventricle compared with wild-type mice




Genotype
MGI:3775309
cn40
Allelic
Composition
Insrtm1Khn/Insrtm1Khn
Tg(Ckmm-cre)5Khn/0
Genetic
Background
involves: 129S4/SvJae * C57BL/6 * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Insrtm1Khn mutation (1 available); any Insr mutation (67 available)
Tg(Ckmm-cre)5Khn mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
N
• heart function and morphology is normal

growth/size/body
N
• mice exhibit normal growth rates

homeostasis/metabolism
N
• mice exhibit normal glucose homeostasis




Genotype
MGI:5494712
cn41
Allelic
Composition
Mapk8tm1Jcbr/Mapk8tm1Jcbr
Tg(Ckmm-cre)5Khn/0
Genetic
Background
involves: 129S4/SvJae * C57BL/6 * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mapk8tm1Jcbr mutation (0 available); any Mapk8 mutation (64 available)
Tg(Ckmm-cre)5Khn mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
N
• whether fed standard chow or a high fat diet, mice exhibit normal body composition

homeostasis/metabolism
N
• whether fed standard chow or a high fat diet, mice exhibit normal energy homeostasis, insulin sensitivity and glucose homeostasis




Genotype
MGI:5317893
cn42
Allelic
Composition
Akt1tm2Mbb/Akt1tm2Mbb
Tg(Ckmm-cre)5Khn/0
Genetic
Background
involves: 129S4/SvJae * C57BL/6J * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Akt1tm2Mbb mutation (0 available); any Akt1 mutation (24 available)
Tg(Ckmm-cre)5Khn mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
N
• mice do not phenocopy knock-out mice

homeostasis/metabolism
N
• mice do not phenocopy knock-out mice




Genotype
MGI:2389586
cn43
Allelic
Composition
Insrtm1Khn/Insrtm1Dac
Tg(Ckmm-cre)5Khn/0
Genetic
Background
involves: 129S4/SvJae * C57BL/6J * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Insrtm1Dac mutation (2 available); any Insr mutation (67 available)
Insrtm1Khn mutation (1 available); any Insr mutation (67 available)
Tg(Ckmm-cre)5Khn mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• in the fed state, incomplete penetrance




Genotype
MGI:2389585
cn44
Allelic
Composition
Insrtm1Khn/Insrtm1Khn
Tg(Ckmm-cre)5Khn/0
Genetic
Background
involves: 129S4/SvJae * C57BL/6J * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Insrtm1Khn mutation (1 available); any Insr mutation (67 available)
Tg(Ckmm-cre)5Khn mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
adipose tissue
• larger than normal fat depots in fat pads, including the perianal, subcutaneous and perigonadal fat pads

homeostasis/metabolism
N
• normal serum cholesterol levels
• normoglycemia, up to 11 months of age
• normal glucose tolerance
• normal concentrations of serum insulin
• 20% elevation in serum free fatty acids (FFAs)
• greater than70% elevated, observed from ages 4 to 11 months




Genotype
MGI:6458047
cn45
Allelic
Composition
Smdt1tm1c(EUCOMM)Wtsi/Smdt1tm1c(EUCOMM)Wtsi
Tg(Ckmm-cre)5Khn/0
Genetic
Background
involves: 129S4/SvJae * C57BL/6N * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smdt1tm1c(EUCOMM)Wtsi mutation (0 available); any Smdt1 mutation (12 available)
Tg(Ckmm-cre)5Khn mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• slight decrease in mitochondrial calcium in skeletal muscle fiber

growth/size/body
N
• mice exhibit normal body weight

behavior/neurological
N
• mice exhibit normal grip strength




Genotype
MGI:4944271
cn46
Allelic
Composition
Ptentm1Hwu/Ptentm1Hwu
Tg(Ckmm-cre)5Khn/?
Genetic
Background
involves: 129S4/SvJae * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptentm1Hwu mutation (16 available); any Pten mutation (76 available)
Tg(Ckmm-cre)5Khn mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
muscle
• in mice fed a normal diet, the weights of injured tibialis anterior muscles are greater than weights of muscles in controls
• regenerating myofibers after injury are larger compared to control injured myofibers, indicating that mutants exhibit a promotion in regeneration of injured muscles
• after 8 months of a high-fat diet, mutants exhibit larger myofiber sizes of regenerating muscles at 6 and 12 days after injury and increased weights of the injured tibialis anterior muscles than controls
• after 8 months on a high-fat diet, collagen deposition is reduced in regenerating muscles compared to controls

homeostasis/metabolism
• after 8 months of a high-fat diet, mutants exhibit lower glucose levels than controls on the same diet
• after 8 months of a high-fat diet, mutants exhibit lower insulin levels than controls on the same diet




Genotype
MGI:3663418
cn47
Allelic
Composition
Slc2a4tm1Abel/Slc2a4+
Tg(Ckmm-cre)5Khn/0
Genetic
Background
involves: 129S4/SvJae * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc2a4tm1Abel mutation (0 available); any Slc2a4 mutation (22 available)
Tg(Ckmm-cre)5Khn mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
digestive/alimentary system
• insulin stimulated whole body uptake is decreased in heterozygous muscle-specific knockout mice

muscle
• insulin stimulated muscle uptake is decreased in heterozygous muscle-specific knockout mice

cellular
• insulin stimulated muscle uptake is decreased in heterozygous muscle-specific knockout mice




Genotype
MGI:3663416
cn48
Allelic
Composition
Slc2a4tm1Abel/Slc2a4tm1Abel
Tg(Ckmm-cre)5Khn/0
Genetic
Background
involves: 129S4/SvJae * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc2a4tm1Abel mutation (0 available); any Slc2a4 mutation (22 available)
Tg(Ckmm-cre)5Khn mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• during a 2 hour hyperinsulinemic-euglycemic clamp insulin-stimulated whole body glycolysis is reduced by 59% (49 umol/kg/min vs 118 umol/kg/min in 21-week old controls)
• during a 2 hour hyperinsulinemic-euglycemic clamp,in 10-week old mutants insulin-stimulated whole body glycolysis is reduced by 43% (95 umol/kg/min vs 166 umol/kg/min in young controls)
• during a 2 hour hyperinsulinemic-euglycemic clamp,in 10-week old mutants insulin-stimulated skeletal muscle glycolysis is reduced by 92% (18 nmol/g/min vs 223 nmol/g/min in young controls)
• in young mutants treated from 12 weeks of age with phloridzin, whole body glycolysis is reduced by 30% (98 vs 118 umol/kg/min) and and muscle glycolysis is reduced by 82% (44 vs 251 nmol/g/min); hepatic glucose production is unaffected by insulin
• during a 2 hour hyperinsulinemic-euglycemic clamp inhibition of hepatic glucose production by mutants is impaired in 21-week old mutants
• basal plasma glucose concentration (8.2mM) is increased about 20% compared to controls (Slc2a4tm1Abel homozygotes at 21 weeks of age or mice expressing Tg(Ckmm-cre)1Khan alone) where levels are 6.8-7.2 mM
• however, young (0-week old) muscle-specific knockouts showed no increased plasma glucose vs age-matched controls
• in young mutants treated from 12 weeks of age with phloridzin, plasma glucose levels show an initial increase (10.2 vs 6.7 mM in controls) but levels gradually decrease to comparable levels with controls (8.2, 6.9 and 7.0 mM vs 7.0 mM in controls at 14, 17 and 20 weeks of age)
• 21-week old knockout mice do not show differences in basal plasma insulin levels after an overnight fast, while levels are significantly increased in young (10-week old) knockouts (~110 pM vs 53 pM) and phloridzin treated knockouts compared to their respective controls (166 pM vs 86 pM)
• during a 2 hour hyperinsulinemic-euglycemic clamp insulin-stimulated whole body glycogen/lipid synthesis is decreased by 50% in 21-week old knockouts
• during a 2 hour hyperinsulinemic-euglycemic clamp,in 10-week old mutants insulin-stimulated whole body glycogen/lipid synthesis is decreased by 60% (36 vs 90 umol/kg/min) compared to young controls
• during a 2 hour hyperinsulinemic-euglycemic clamp,in 10-week old mutants insulin-stimulated skeletal muscle glycogen/lipid synthesis is decreased by 89% (0.7 vs 2.7 nmol/g/min) compared to young controls
• in young mutants treated from 12 weeks of age with phloridzin, whole body glycogen/lipid biosynthesis is decreased by 36% (44 vs 106 umol/kg/min) and muscle glycogen/lipid synthesis is reduced by 45% ( 4.7 vs 8.7 nmol/g/min)

muscle
• uptake in skeletal (gastrocnemius) muscle is decreased by 92% in muscle-specific knockouts (20 vs 237 nmol/g/min in controls)
• during a 2 hour hyperinsulinemic-euglycemic clamp, insulin-stimulated uptake in skeletal muscle in 10-week old mutants is decreased by 85% (39 vs 261 nmol/g/min in young controls)
• in young mutants treated from 12 weeks of age with phloridzin, skeletal muscle uptake is decreased by 81% (49 vs 227 nmol/g/min)

adipose tissue
• insulin-stimulated glucose uptake in white adipose tissue and intracapsular brown adipose tissue is decreased by 69% (9 nmol/g/min vs 28 nmol/g/min) and 84% (37 nmol/g/min vs 237 nmol/g/min), respectively
• in 10 week old mutants insulin-stimulated uptake is increased 2-fold in white adipose tissue (26 vs 13 nmol/g/min) and brown adipose tissue (453 vs 224 nmol/g/min) compared to young controls
• in young mutants treated from 12 weeks of age with phloridzin, insulin-stimulated uptake in brown adipose tissue is increased (633 vs 247 nmol/g/min) but is unchanged in white adipose tissue

digestive/alimentary system
• in 21-week old mutants during a 2 hour hyperinsulinemic-euglycemic clamp insulin stimulated whole body uptake is decreased by 55% in muscle-specific knockout mice (102 umol/kg/min vs 224 umol/kg/min)
• during a 2 hour hyperinsulinemic-euglycemic clamp, insulin-stimulated whole body uptake in 10-week old mutants is decreased by 49% (130 vs 256 nmol/g/min in young controls)
• in young mutants treated from 12 weeks of age with phloridzin, whole body uptake is decreased by 32% (142 vs 224 umol/kg/min)

cellular
• insulin-stimulated glucose uptake in white adipose tissue and intracapsular brown adipose tissue is decreased by 69% (9 nmol/g/min vs 28 nmol/g/min) and 84% (37 nmol/g/min vs 237 nmol/g/min), respectively
• in 10 week old mutants insulin-stimulated uptake is increased 2-fold in white adipose tissue (26 vs 13 nmol/g/min) and brown adipose tissue (453 vs 224 nmol/g/min) compared to young controls
• in young mutants treated from 12 weeks of age with phloridzin, insulin-stimulated uptake in brown adipose tissue is increased (633 vs 247 nmol/g/min) but is unchanged in white adipose tissue
• uptake in skeletal (gastrocnemius) muscle is decreased by 92% in muscle-specific knockouts (20 vs 237 nmol/g/min in controls)
• during a 2 hour hyperinsulinemic-euglycemic clamp, insulin-stimulated uptake in skeletal muscle in 10-week old mutants is decreased by 85% (39 vs 261 nmol/g/min in young controls)
• in young mutants treated from 12 weeks of age with phloridzin, skeletal muscle uptake is decreased by 81% (49 vs 227 nmol/g/min)




Genotype
MGI:5829563
cn49
Allelic
Composition
Gt(ROSA)26Sortm1(CAG-GCaMP5)Ryba/Gt(ROSA)26Sor+
Hnrnputm1.1Tman/Hnrnputm1.1Tman
Tg(Ckmm-cre)5Khn/0
Genetic
Background
involves: 129S4/SvJaeSor * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sortm1(CAG-GCaMP5)Ryba mutation (0 available); any Gt(ROSA)26Sor mutation (813 available)
Hnrnputm1.1Tman mutation (1 available); any Hnrnpu mutation (31 available)
Tg(Ckmm-cre)5Khn mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• amplitude of heart contraction is significantly reduced relative to that in control hearts
• analysis of calcium cycling and heart contraction revealed impaired calcium handling
• hearts reach the maximal calcium level slightly slower than control hearts
• rate of post-contraction calcium decrease is significantly slower than that in controls hearts
• calcium decays almost linearly from the peak signal, in contrast to a two-phase (a rapid drop within the first 20 ms followed by a slower decrease for about 200 ms) reduction in control hearts

muscle
• amplitude of heart contraction is significantly reduced relative to that in control hearts
• analysis of calcium cycling and heart contraction revealed impaired calcium handling
• hearts reach the maximal calcium level slightly slower than control hearts
• rate of post-contraction calcium decrease is significantly slower than that in controls hearts
• calcium decays almost linearly from the peak signal, in contrast to a two-phase (a rapid drop within the first 20 ms followed by a slower decrease for about 200 ms) reduction in control hearts




Genotype
MGI:5829560
cn50
Allelic
Composition
Hnrnputm1.1Tman/Hnrnputm1.1Tman
Tg(Ckmm-cre)5Khn/0
Genetic
Background
involves: 129S4/SvJaeSor * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hnrnputm1.1Tman mutation (1 available); any Hnrnpu mutation (31 available)
Tg(Ckmm-cre)5Khn mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Aberrant cardiomyocyte oranization and contractility in Hnrnputm1.1Tman/Hnrnputm1.1Tman Tg(Ckmm-cre)5Khn/0 hearts

mortality/aging
• although born at normal Mendelian ratios, all mice die abruptly from heart failure around 14 days after birth

cardiovascular system
• cardiomyocytes appear disorganized, slightly hypertrophic, and are surrounded by more white space upon H&E staining
• trichrome staining revealed an increased blue signal between cardiomyocytes, suggesting increased expression of the extracellular matrix
• cardiomyocytes show abnormal actin dynamics and shortened sarcomeres
• overall density of cardiomyocytes is reduced, likely due to heart remodeling
• cardiomyocytes appear slightly hypertrophic
• however, no major cardiac hypertrophy is observed at P12
• thinning of the ventricle septum is noted at P14
• thinning of the ventricle wall is noted at P14
• mice show progressive dilation of the heart ventricle chambers
• dilation of the left ventricle chamber is observed as early as P7
• mice develop severe, lethal dilated cardiomyopathy
• fractional shortening (FS) is significantly reduced (below 20%) relative to controls (above 60%)
• reduced FS is detected as early as P6, and this decrease progresses rapidly to the time of death
• ability of sarcomeres to fully relax is impaired in cardiomyocytes
• at P11, B- and M-mode images of echocardiography show a dramatic increase of left ventricular anterior-to-posterior wall diameter during systole and diastole
• cardiomyocytes show abnormal actin dynamics and contractility defects
• at P13, hearts exhibit a slightly higher level of apoptosis than control hearts, as determined by cleaved caspase 3 staining
• cardiac malfunction starts early after birth and progresses rapidly to cardiac failure
• however, no differences in heart rate are observed from P3 to P11

muscle
• cardiomyocytes appear disorganized, slightly hypertrophic, and are surrounded by more white space upon H&E staining
• trichrome staining revealed an increased blue signal between cardiomyocytes, suggesting increased expression of the extracellular matrix
• cardiomyocytes show abnormal actin dynamics and shortened sarcomeres
• overall density of cardiomyocytes is reduced, likely due to heart remodeling
• cardiomyocytes appear slightly hypertrophic
• however, no major cardiac hypertrophy is observed at P12
• mice develop severe, lethal dilated cardiomyopathy
• fractional shortening (FS) is significantly reduced (below 20%) relative to controls (above 60%)
• reduced FS is detected as early as P6, and this decrease progresses rapidly to the time of death
• ability of sarcomeres to fully relax is impaired in cardiomyocytes
• at P13, hearts exhibit a slightly higher level of apoptosis than control hearts, as determined by cleaved caspase 3 staining
• under conditions of muscle relaxation, the lengths of sarcomeres and I bands are markedly reduced in cardiomyocytes
• at P11, the average length of sarcomeres (Z line to Z line) is only 1.68 um versus ~2.24 um in controls
• some regions of sarcomeres lack mitochondria coverage
• the lengths of I bands are markedly reduced in cardiomyocytes

cellular
• at P13, hearts exhibit a slightly higher level of apoptosis than control hearts, as determined by cleaved caspase 3 staining
• some regions of sarcomeres lack mitochondria coverage




Genotype
MGI:3609011
cn51
Allelic
Composition
Pik3r1tm1Lca/Pik3r1tm1Lca
Tg(Ckmm-cre)5Khn/0
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6 * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pik3r1tm1Lca mutation (1 available); any Pik3r1 mutation (45 available)
Tg(Ckmm-cre)5Khn mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype
• mutants are viable and fertile, with no gross abnormalities and normal muscle morphology




Genotype
MGI:3609012
cn52
Allelic
Composition
Pik3r1tm1Lca/Pik3r1tm1Lca
Pik3r2tm1Lca/Pik3r2tm1Lca
Tg(Ckmm-cre)5Khn/0
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6 * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pik3r1tm1Lca mutation (1 available); any Pik3r1 mutation (45 available)
Pik3r2tm1Lca mutation (1 available); any Pik3r2 mutation (21 available)
Tg(Ckmm-cre)5Khn mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• most cardiomyocytes are reduced in size
• heart size normalized to body weight or tibia length is about 20% smaller than in wild-type mice; however the structure of the heart is normal with no obvious signs of fibrosis or tissue damage
• the increase in heart size in response to exercise is decreased compared to wild-type mice

muscle
• most cardiomyocytes are reduced in size




Genotype
MGI:5792903
cn53
Allelic
Composition
Hjvtm1Kpan/Hjvtm1Kpan
Tg(Ckmm-cre)5Khn/0
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6 * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hjvtm1Kpan mutation (0 available); any Hjv mutation (8 available)
Tg(Ckmm-cre)5Khn mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype
N
• mice appear overtly normal, exhibit normal serum iron indices and do not develop iron overload in the liver, pancreas or heart, suggesting normal systemic iron homeostasis under physiological conditions




Genotype
MGI:5883288
cn54
Allelic
Composition
Nebtm2Hgra/Nebtm2Hgra
Tg(Ckmm-cre)5Khn/0
Genetic
Background
involves: 129S6/SvEvTac * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nebtm2Hgra mutation (0 available); any Neb mutation (227 available)
Tg(Ckmm-cre)5Khn mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
• quadriceps muscle weights are 60-70% smaller than in controls

mortality/aging
• about half of mice die within 3 months of birth, with a median survival of 83 days
• most of the remaining mice survive into adulthood

muscle
• quadriceps muscle weights are 60-70% smaller than in controls
• local areas with nemaline rods are seen; in both soleus and EDL muscle, rod bodies make up about 3% of the fiber area
• H-zones are absent and A-band density gradually decreases toward the M-band, indicating thin filaments of variable length
• soleus and EDL muscle show a reduction in thin filament length
• A-band density gradually decreases toward the M-band
• H-zones are absent
• Z-disks of sarcomeres are often irregular and wavy
• in the soleus muscle, all three fiber types are smaller
• in the EDL, type IIB fibers are smaller
• the quadriceps muscle shows a severe reduction in type IIB fiber size
• in the EDL muscle, type I and IIA fibers are larger
• in the soleus muscle, the total number of fibers is increased
• gastrocnemius muscle weights are 60-70% smaller than in controls
• tibialis cranialis and extensor digitorum longus (EDL) weights are much smaller at 5 weeks but less at 6 months
• the soleus muscle weight is increased by about 50% at 6 months
• muscles show a consistent fiber-type switch away from type IIB fibers to oxidative types with hypertrophy of type I and IIA fiber types and severe atrophy of remaining type IIB fibers
• soleus muscle is nearly all type I fibers
• the EDL muscle shows an increased proportion of type I and IIA fibers and a much reduced number of type IIB
• the quadriceps muscle shows a severe reduction in type IIB fiber number
• reduced force-generating capacity of skeletal muscle, with tetanic force levels reduced 80-90% in EDL muscle
• the maximal specific force at optimal sarcomere length is reduced in both soleus and EDL muscle

behavior/neurological
• mice exercise with reduced duration, speed and distance ran

growth/size/body
• about 40% lower body weight

homeostasis/metabolism
• mice exercise with reduced duration, speed and distance ran

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
nemaline myopathy 2 DOID:0110928 OMIM:256030
J:225840




Genotype
MGI:4359072
cn55
Allelic
Composition
Aplp2tm1Dbo/Aplp2tm1Dbo
Apptm1.1Zhe/Apptm1.1Zhe
Tg(Ckmm-cre)5Khn/0
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6J * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Aplp2tm1Dbo mutation (1 available); any Aplp2 mutation (20 available)
Apptm1.1Zhe mutation (1 available); any App mutation (67 available)
Tg(Ckmm-cre)5Khn mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• at E16.5, endplate band width and number are increased compared to in wild-type mice that is as severe as in Aplp2tm1Dbo Apptm1.2Zhe double homozygotes
• at P0, presynaptic and postsynaptic terminal distribution is diffuse and nerve terminal sprouting occurs unlike in wild-type that is as severe as in Aplp2tm1Dbo Apptm1.2Zhe double homozygotesmice




Genotype
MGI:5293356
cn56
Allelic
Composition
Fkbp1atm1Slh/Fkbp1atm1Slh
Tg(Ckmm-cre)5Khn/0
Genetic
Background
involves: 129S7/SvEvBrd * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fkbp1atm1Slh mutation (0 available); any Fkbp1a mutation (11 available)
Tg(Ckmm-cre)5Khn mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
muscle
• muscles exhibit increased abnormal mitochondrial compared with wild-type muscles
• extensor digitorum longus muscle-specific force and action potential-triggered calcium transient amplitudes are reduced compared to in wild-type muscles
• muscles exhibit leaky calcium channels indicated by enhanced frequency of calcium sparks compared with wild-type mice
• muscles exhibit S107-resistant oxidative stress unlike wild-type muscles
• S107-treatment does not improve abnormal muscle physiology
• extensor digitorum longus muscle-specific force is reduced compared to in wild-type muscles

homeostasis/metabolism

cellular
• S107-resistant oxidative stress in muscles

behavior/neurological




Genotype
MGI:5490256
cn57
Allelic
Composition
Fkbp1atm1.1Shou/Fkbp1atm1Zuk
Tg(Ckmm-cre)5Khn/0
Genetic
Background
involves: 129S7/SvEvBrd * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fkbp1atm1.1Shou mutation (0 available); any Fkbp1a mutation (11 available)
Fkbp1atm1Zuk mutation (0 available); any Fkbp1a mutation (11 available)
Tg(Ckmm-cre)5Khn mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
N
• cardiac development appears normal




Genotype
MGI:3521579
cn58
Allelic
Composition
Fkbp1atm1Zuk/Fkbp1atm1Slh
Tg(Ckmm-cre)5Khn/0
Genetic
Background
involves: 129S7/SvEvBrd * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fkbp1atm1Slh mutation (0 available); any Fkbp1a mutation (11 available)
Fkbp1atm1Zuk mutation (0 available); any Fkbp1a mutation (11 available)
Tg(Ckmm-cre)5Khn mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• males at 3 months of age started to weigh less (26.3 g) than wild-type (31.9 g), while females had similar weights

muscle
• mRNAs for all three isoforms of calcineurin A are significantly elevated in the diaphragm muscle; a significant increase in calcineurin protein levels is seen in diaphragm muscle homogenates from the mutant mice.
• no difference observed in calcineurin protein level in EDL and soleus muscles between mutant mice and controls
• the diaphragm exhibits an increased percentage of muscle fibers containing internal nuclei
• the diaphragm muscle shows a shift in fast to slow muscle fiber ratio (i.e. of type I to type II fibers)
• mutant myotubes exhibit a reduced maximal voltage-gated Ca2+ release, but decay of the Ca2+transients is not significantly different in the mutant and control
• mutant myotubes were more sensitive to caffeine-induced Ca2+ release than controls
• no significant differences in resting Ca2+ levels
• greater tetanic force in the diaphragm than in controls at frequencies between 15 and 50 Hz; however, isometric tetanic force in the extensor digitorum longus (EDL) muscles was 19-32% less than controls at stimulation frequencies between 60 and 300 Hz
• abnormal calcium homeostasis

homeostasis/metabolism
• mutant myotubes exhibit a reduced maximal voltage-gated Ca2+ release, but decay of the Ca2+transients is not significantly different in the mutant and control
• mutant myotubes were more sensitive to caffeine-induced Ca2+ release than controls
• no significant differences in resting Ca2+ levels




Genotype
MGI:5294403
cn59
Allelic
Composition
Pnpla2tm1Eek/Pnpla2tm1Eek
Tg(Ckmm-cre)5Khn/0
Genetic
Background
involves: 129S * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pnpla2tm1Eek mutation (1 available); any Pnpla2 mutation (24 available)
Tg(Ckmm-cre)5Khn mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• 10.7-fold in cardiac muscle

growth/size/body

homeostasis/metabolism
• 10.7-fold in cardiac muscle

muscle
• 10.7-fold in cardiac muscle




Genotype
MGI:5435675
cn60
Allelic
Composition
Fktntm1Kcam/Fktntm1Kcam
Tg(Ckmm-cre)5Khn/?
Genetic
Background
involves: 129S/SvEv * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fktntm1Kcam mutation (1 available); any Fktn mutation (19 available)
Tg(Ckmm-cre)5Khn mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
muscle
• signs of dystrophic disease at 12 weeks of age
• central nucleation in muscle fibers
• variable fiber size
• hypercontracted fibers

homeostasis/metabolism
• elevated serum creatine kinase at 12 weeks of age

behavior/neurological
• reduced running times on a treadmill

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Fukuyama congenital muscular dystrophy DOID:0050559 OMIM:253800
J:187144




Genotype
MGI:3775311
cn61
Allelic
Composition
Igf1rtm1.1Mhz/Igf1rtm1.1Mhz
Insrtm1Khn/Insrtm1Khn
Tg(Ckmm-cre)5Khn/0
Genetic
Background
involves: 129/Sv * 129S4/SvJae * C57BL/6 * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Igf1rtm1.1Mhz mutation (0 available); any Igf1r mutation (54 available)
Insrtm1Khn mutation (1 available); any Insr mutation (67 available)
Tg(Ckmm-cre)5Khn mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice die within the first month usually after birth 2 days after beginning to gasp for air at P16
• death is either spontaneous or precipitated by the stress of routine handling

cardiovascular system
• mice exhibit irregular and disrupted sarcomeric Z and M lines and increased mitochondria with central crowding compared to wild-type hearts
• at P8 and P20, heart weights reduced 15% and 25%, respectively, compared to in wild-type mice
• mice exhibit decreased heart weight to body weight
• at P17, mice exhibit an increase in left ventricle diameter of 6.7% in diastolic and 57.1% in systolic states
• at P17, left ventricular fractional shortening is reduced 33% compared to Igf1rtm1.1Mhz Insrtm1Khn homozygote controls

behavior/neurological
• at P16, mice become less active than wild-type mice

respiratory system
• at P16, mice gasp for air

growth/size/body
• at P20, mice weigh 15% to 20% less than wild-type mice
• despite normal growth rates during the first two weeks after birth, mice exhibit reduced growth rates during week 3

muscle
• mice exhibit irregular and disrupted sarcomeric Z and M lines and increased mitochondria with central crowding compared to wild-type hearts
• at P17, left ventricular fractional shortening is reduced 33% compared to Igf1rtm1.1Mhz Insrtm1Khn homozygote controls

homeostasis/metabolism
N
• mice exhibit normal glucose homeostasis




Genotype
MGI:3775310
cn62
Allelic
Composition
Igf1rtm1.1Mhz/Igf1r+
Insrtm1Khn/Insrtm1Khn
Tg(Ckmm-cre)5Khn/0
Genetic
Background
involves: 129/Sv * 129S4/SvJae * C57BL/6 * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Igf1rtm1.1Mhz mutation (0 available); any Igf1r mutation (54 available)
Insrtm1Khn mutation (1 available); any Insr mutation (67 available)
Tg(Ckmm-cre)5Khn mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 3 of 13 mice die by 6 months of age

cardiovascular system
• at P17, left ventricular fractional shortening is reduced 23% compared to Igf1rtm1.1Mhz Insrtm1Khn homozygote controls

respiratory system
• beginning at 3 months of age, 1 of 13 mice appear to gasp for air

behavior/neurological
• beginning at 3 months of age, 1 of 13 mice exhibit less activity than wild-type mice