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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Tg(Prrx1-cre)1Cjt
transgene insertion 1, Clifford J Tabin
MGI:2450929
Summary 99 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cn1
Adamtsl2tm1c(KOMP)Wtsi/Adamtsl2tm1c(KOMP)Wtsi
Tg(Prrx1-cre)1Cjt/0
B6.Cg-Adamtsl2tm1c(KOMP)Wtsi Tg(Prrx1-cre)1Cjt MGI:6378827
cn2
Fermt2tm1.1Gxo/Fermt2+
Tg(Prrx1-cre)1Cjt/0
B6.Cg-Fermt2tm1.1Gxo Tg(Prrx1-cre)1Cjt MGI:5791894
cn3
Fermt2tm1.1Gxo/Fermt2tm1.1Gxo
Tg(Prrx1-cre)1Cjt/0
B6.Cg-Fermt2tm1.1Gxo Tg(Prrx1-cre)1Cjt MGI:5791895
cn4
Gli3Xt-J/Gli3Xt-J
Hand2tm1.1Zllr/Hand2tm1.2Zllr
Tg(Prrx1-cre)1Cjt/0
involves: 129 * BALB/cJ * C3H/HeJ * C57BL/6 * SJL MGI:4453963
cn5
Gt(ROSA)26Sortm5(Etv4/en,-GFP)Amc/Gt(ROSA)26Sor+
Tg(Prrx1-cre)1Cjt/0
involves: 129 * C57BL/6 * CBA * SJL/J * Swiss Webster MGI:3848912
cn6
Fgfr1tm1.1Jpa/Fgfr1+
Gt(ROSA)26Sortm5(Etv4/en,-GFP)Amc/Gt(ROSA)26Sor+
Tg(Prrx1-cre)1Cjt/0
involves: 129 * C57BL/6 * CBA * SJL/J * Swiss Webster MGI:3848913
cn7
Gt(ROSA)26Sortm5(Etv4/en,-GFP)Amc/Gt(ROSA)26Sor+
Shhtm1Amc/Shhtm2Amc
Tg(Prrx1-cre)1Cjt/0
involves: 129 * C57BL/6 * CBA * SJL/J * Swiss Webster MGI:3848911
cn8
Gt(ROSA)26Sortm3(Gli3)Amc/Gt(ROSA)26Sor+
Tg(Prrx1-cre)1Cjt/0
involves: 129 * C57BL/6J * CBA * SJL/J * Swiss Webster MGI:3828285
cn9
Tbx4tm1.1Pa/Tbx4tm1.2Pa
Tg(Prrx1-cre)1Cjt/0
involves: 129 * C57BL/6J * FVB/N * SJL/J MGI:3811612
cn10
Nrp1tm2Ddg/Nrp1tm2Ddg
Nrp2tm1Ddg/Nrp2tm1Ddg
Tg(Prrx1-cre)1Cjt/0
involves: 129 * C57BL/6J * SJL/J MGI:3840961
cn11
Dicer1tm1Bdh/Dicer1tm1Bdh
Tg(Prrx1-cre)1Cjt/0
involves: 129 * C57BL/6J * SJL/J MGI:3589871
cn12
Hivep3tm3Glm/Hivep3+
Map2k1tm1Chrn/Map2k1tm1Chrn
Map2k2tm1Chrn/Map2k2tm1Chrn
Tg(Prrx1-cre)1Cjt/0
involves: 129 * C57BL/6J * SJL * SJL/J MGI:5550510
cn13
Ctnnb1tm2Kem/Ctnnb1+
Amer1tm1.1Nbar/Y
Tg(Prrx1-cre)1Cjt/0
involves: 129 * C57BL/6 * SJL MGI:5086015
cn14
Ctnnb1tm2Kem/Ctnnb1+
Tg(Prrx1-cre)1Cjt/0
involves: 129 * C57BL/6 * SJL MGI:5086016
cn15
Sox11tm2.1Weg/Sox11tm2.1Weg
Sox4tm1Vlf/Sox4tm1Vlf
Tg(Prrx1-cre)1Cjt/0
involves: 129 * C57BL/6 * SJL/J MGI:5285376
cn16
Recktm2.1Noda/Recktm2.2Noda
Tg(Prrx1-cre)1Cjt/0
involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J * FVB/N * SJL/J MGI:5428660
cn17
Gjb2tm3.1(Gjb1)Kwi/Gjb2+
Tg(Prrx1-cre)1Cjt/0
involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J * SJL * SJL/J MGI:5441208
cn18
Cxcl12tm1Tng/Cxcl12tm1.1Link
Tg(Prrx1-cre)1Cjt/0
involves: 129P2/OlaHsd * C57BL/6 * FVB/N * SJL/J MGI:5468942
cn19
Cdc42tm1.1Ayam/Cdc42tm1.1Ayam
Tg(Prrx1-cre)1Cjt/0
involves: 129P2/OlaHsd * C57BL/6 * ICR * SJL MGI:5320443
cn20
Ift88tm1Bky/Ift88tm1.1Bky
Tg(Prrx1-cre)1Cjt/?
involves: 129P2/OlaHsd * C57BL/6J * SJL/J MGI:3710956
cn21
Efnb1tm1Rha/Efnb1+
Tg(Prrx1-cre)1Cjt/?
involves: 129P2/OlaHsd * C57BL/6J * SJL/J MGI:3713244
cn22
Tnfsf11tm1.1Caob/Tnfsf11tm1.1Caob
Tg(Prrx1-cre)1Cjt/0
involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6 MGI:5297381
cn23
Fbn1tm1.1Itl/Fbn1tm3Rmz
Tg(Prrx1-cre)1Cjt/0
involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6J * SJL/J MGI:5439641
cn24
Hand2tm1.1Zllr/Hand2tm1.2Zllr
Tg(Prrx1-cre)1Cjt/0
involves: 129S1/Sv * 129X1/SvJ * BALB/cJ * C57BL/6 * SJL MGI:4453962
cn25
Nf1tm1Par/Nf1tm1Par
Tg(Prrx1-cre)1Cjt/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * C57BL/6N * SJL/J MGI:5493228
cn26
Lrp5tm2Mawa/Lrp5+
Tg(Prrx1-cre)1Cjt/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL MGI:5014231
cn27
Sox5tm2Vlf/Sox5tm2Vlf
Tg(Prrx1-cre)1Cjt/?
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL MGI:3800355
cn28
Sox5tm2Vlf/Sox5tm2Vlf
Sox6tm2.1Vlf/Sox6tm2.1Vlf
Tg(Prrx1-cre)1Cjt/?
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL MGI:3800358
cn29
Sox6tm2.1Vlf/Sox6tm2.1Vlf
Tg(Prrx1-cre)1Cjt/?
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL MGI:3800360
cn30
Lrp5tm1Mawa/Lrp5+
Tg(Prrx1-cre)1Cjt/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL MGI:5014230
cn31
Nf1tm1Par/Nf1tm1Par
Tg(Prrx1-cre)1Cjt/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL/J MGI:5492109
cn32
Gata6tm2.1Sad/Gata6tm2.1Sad
Tg(Prrx1-cre)1Cjt/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL/J MGI:5550091
cn33
Gt(ROSA)26Sortm1(rtTA,EGFP)Nagy/Gt(ROSA)26Sor+
Tg(Prrx1-cre)1Cjt/0
Tg(tetO-Gata6)1Abl/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL/J MGI:5550092
cn34
Gata4tm1.1Sad/Gata4tm1.2Sad
Pax3Sp-d/Pax3Sp-d
Tg(Prrx1-cre)1Cjt/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL/J MGI:5775444
cn35
Gata6tm2.1Sad/Gata6tm2.1Sad
Shhtm2Amc/Shhtm2Amc
Tg(Prrx1-cre)1Cjt/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL/J MGI:5550094
cn36
Gata4tm1.1Sad/Gata4tm1.2Sad
Tg(Prrx1-cre)1Cjt/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL/J MGI:5775440
cn37
Gata6tm2.1Sad/Gata6tm2.1Sad
Gli1tm1Alj/Gli1tm1Alj
Tg(Prrx1-cre)1Cjt/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL/J MGI:5550093
cn38
Porcntm1.1Lcm/Y
Tg(Prrx1-cre)1Cjt/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL/J MGI:5049888
cn39
Osr1tm2Jian/Osr1tm2Jian
Tg(Prrx1-cre)1Cjt/0
involves: 129S1/Sv * C57BL/6J * SJL/J MGI:5003147
cn40
Osr1tm2Jian/Osr1tm2Jian
Osr2tm1Jian/Osr2tm1Jian
Tg(Prrx1-cre)1Cjt/0
involves: 129S1/Sv * C57BL/6J * SJL/J MGI:5003149
cn41
Ofd1tm2.1Bfra/Ofd1+
Tg(Prrx1-cre)1Cjt/0
involves: 129S2/SvPas * C57BL/6J * SJL/J MGI:4882102
cn42
Ofd1tm2.1Bfra/Y
Tg(Prrx1-cre)1Cjt/0
involves: 129S2/SvPas * C57BL/6J * SJL/J MGI:4882101
cn43
Del(2Hoxd11-Hoxd13)16Ddu/Del(2Hoxd11-Hoxd13)16Ddu
Hoxatm1Ddu/Del(6Hoxa)1Ddu
Tg(Prrx1-cre)1Cjt/0
involves: 129S2/SvPas * C57BL/6J * SJL/J MGI:3715863
cn44
Del(2Hoxd9-Hoxd12)20Ddu/Del(2Hoxd9-Hoxd12)20Ddu
Hoxatm1Ddu/Del(6Hoxa)1Ddu
Tg(Prrx1-cre)1Cjt/0
involves: 129S2/SvPas * C57BL/6J * SJL/J MGI:3715862
cn45
Del(2Hoxd8-Hoxd13)11Ddu/Del(2Hoxd8-Hoxd13)11Ddu
Hoxatm1Ddu/Del(6Hoxa)1Ddu
Tg(Prrx1-cre)1Cjt/0
involves: 129S2/SvPas * C57BL/6J * SJL/J MGI:3715861
cn46
Del(2Hoxd10-Hoxd12)19Ddu/Del(2Hoxd10-Hoxd12)19Ddu
Hoxatm1Ddu/Del(6Hoxa)1Ddu
Tg(Prrx1-cre)1Cjt/0
involves: 129S2/SvPas * C57BL/6J * SJL/J MGI:3715860
cn47
Shox2tm1Ddu/Shox2tm1.1Ddu
Tg(Prrx1-cre)1Cjt/0
involves: 129S2/SvPas * C57BL/6J * SJL/J MGI:3628806
cn48
Del(2Hoxd10-Hoxd13)7Ddu/Del(2Hoxd10-Hoxd13)7Ddu
Hoxatm1Ddu/Del(6Hoxa)1Ddu
Tg(Prrx1-cre)1Cjt/0
involves: 129S2/SvPas * C57BL/6 * SJL MGI:3715858
cn49
Amer1tm1.1Nbar/Y
Tg(Prrx1-cre)1Cjt/0
involves: 129S4/SvJae * C57BL/6 * SJL MGI:5086009
cn50
Bmp4tm1Jfm/Bmp4tm1.1Jfm
Tg(Prrx1-cre)1Cjt/0
involves: 129S4/SvJaeSor MGI:3043045
cn51
Porcntm1.1Vdv/Y
Tg(Prrx1-cre)1Cjt/0
involves: 129S4/SvJaeSor * 129S5/SvEvBrd * C57BL/6 * SJL/J MGI:5435567
cn52
Ift172tm1.1Rama/Ift172tm1.2Rama
Tg(Prrx1-cre)1Cjt/0
involves: 129S4/SvJaeSor * 129X1/SvJ * C57BL/6 * SJL/J MGI:4420983
cn53
Gt(ROSA)26Sortm1Sor/Gt(ROSA)26Sor+
Pax3Sp-d/Pax3Sp-d
Tg(Prrx1-cre)1Cjt/0
involves: 129S4/SvJaeSor * C57BL/6J * SJL/J MGI:5775443
cn54
Bmp2tm1Cjt/Bmp2tm1Cjt
Bmp4tm1Jfm/Bmp4tm1Jfm
Tg(Prrx1-cre)1Cjt/0
involves: 129S4/SvJaeSor * C57BL/6 * SJL MGI:3700042
cn55
Bmp4tm1Jfm/Bmp4tm1Jfm
Tg(Prrx1-cre)1Cjt/0
involves: 129S4/SvJaeSor * C57BL/6 * SJL MGI:3768541
cn56
Bmp2tm1Cjt/Bmp2+
Bmp4tm1Jfm/Bmp4tm1Jfm
Tg(Prrx1-cre)1Cjt/0
involves: 129S4/SvJaeSor * C57BL/6 * SJL MGI:3700040
cn57
Bmp2tm1Cjt/Bmp2+
Bmp4tm1Jfm/Bmp4+
Tg(Prrx1-cre)1Cjt/0
involves: 129S4/SvJaeSor * C57BL/6 * SJL MGI:3700046
cn58
Bmp2tm1Cjt/Bmp2tm1Cjt
Bmp4tm1Jfm/Bmp4+
Tg(Prrx1-cre)1Cjt/0
involves: 129S4/SvJaeSor * C57BL/6 * SJL MGI:3700041
cn59
Gli3tm3.1Blnw/Gli3tm3.1Blnw
Tg(Prrx1-cre)1Cjt/0
involves: 129S6/SvEvTac * C57BL/6 * C57BL/6J * SJL MGI:5810679
cn60
Gli3tm3.1Blnw/Gli3+
Tg(Prrx1-cre)1Cjt/0
involves: 129S6/SvEvTac * C57BL/6 * C57BL/6J * SJL MGI:5810678
cn61
Gt(ROSA)26Sortm1(CAG-Lmx1b,ALPP)Rjo/Gt(ROSA)26Sor+
Tg(Prrx1-cre)1Cjt/0
involves: 129S6/SvEvTac * C57BL/6 * C57BL/6J * SJL/J MGI:4441201
cn62
Rspo2ftls/Rspo2ftls
Rspo3tm1.1Jcob/Rspo3tm1.2Jcob
Tg(Prrx1-cre)1Cjt/0
involves: 129S6/SvEvTac * C57BL/6 * CD-1 * SJL MGI:5443990
cn63
Rspo3tm1.1Jcob/Rspo3tm1.2Jcob
Tg(Prrx1-cre)1Cjt/0
involves: 129S6/SvEvTac * C57BL/6 * CD-1 * SJL MGI:5443989
cn64
Riox1tm1Qch/Riox1tm1Qch
Tg(Prrx1-cre)1Cjt/0
involves: 129S6/SvEvTac * C57BL/6J * C57BL/6NCrl * SJL/J MGI:5762856
cn65
Bmp7tm1.1Dgra/Bmp7tm1.1Dgra
Tg(Prrx1-cre)1Cjt/0
involves: 129S6/SvEvTac * C57BL/6J * C57BL/6NTac * SJL/J MGI:5642218
cn66
Ccn2tm1.1Vlcg/Ccn2tm1.1Vlcg
Tg(Prrx1-cre)1Cjt/0
involves: 129S6/SvEvTac * C57BL/6J * C57BL/6NTac * SJL/J MGI:4822057
cn67
Ctnnb1tm1Yy/Ctnnb1tm1Yy
Tg(Prrx1-cre)1Cjt/0
involves: 129S6/SvEvTac * C57BL/6J * SJL/J MGI:5426940
cn68
Wnt4tm1.1Bhr/Wnt4tm1.1Bhr
Tg(Prrx1-cre)1Cjt/0
involves: 129S7/SvEvBrd * C57BL/6J MGI:6458883
cn69
Lmx1btm1Rjo/Lmx1btm1Zfc
Tg(Prrx1-cre)1Cjt/0
involves: 129S7/SvEvBrd * C57BL/6J * SJL/J MGI:4441203
cn70
Sox9tm2Crm/Sox9+
Tg(Prrx1-cre)1Cjt/0
involves: 129S7/SvEvBrd * C57BL/6J * SJL/J MGI:2451172
cn71
Sox9tm2Crm/Sox9tm2Crm
Tg(Prrx1-cre)1Cjt/0
involves: 129S7/SvEvBrd * C57BL/6J * SJL/J MGI:2451173
cn72
Bmp2tm1Cjt/Bmp2tm1Cjt
Bmp7tm1Rob/Bmp7tm1Rob
Tg(Prrx1-cre)1Cjt/0
involves: 129S/SvEv * C57BL/6 * SJL MGI:3768542
cn73
Bmp2tm1Cjt/Bmp2tm1Cjt
Bmp7tm1Rob/Bmp7+
Tg(Prrx1-cre)1Cjt/0
involves: 129S/SvEv * C57BL/6 * SJL MGI:3700043
cn74
Bmp2tm1Cjt/Bmp2+
Bmp7tm1Rob/Bmp7tm1Rob
Tg(Prrx1-cre)1Cjt/0
involves: 129S/SvEv * C57BL/6 * SJL MGI:3700044
cn75
Bmp2tm1Cjt/Bmp2+
Bmp7tm1Rob/Bmp7+
Tg(Prrx1-cre)1Cjt/0
involves: 129S/SvEv * C57BL/6 * SJL MGI:3700045
cn76
Vegfatm2Gne/Vegfatm2Gne
Tg(Prrx1-cre)1Cjt/0
involves: 129/Sv * C57BL/6J * SJL/J MGI:3840960
cn77
Has2tm1.1Yama/Has2tm1.1Yama
Tg(Prrx1-cre)1Cjt/0
involves: 129X1/SvJ * C57BL/6 * FVB/N * SJL/J MGI:4360706
cn78
Gli3Xt-J/Gli3+
Spoptm1c(KOMP)Mbp/Spoptm1c(KOMP)Mbp
Tg(Prrx1-cre)1Cjt/0
involves: C3H/HeJ * C57BL/6J * C57BL/6N * SJL/J MGI:5896743
cn79
Vcantm1.1Hwat/Vcantm1.1Hwat
Tg(Prrx1-cre)1Cjt/0
involves: C57BL/6 * C57BL/6J * SJL/J MGI:4840048
cn80
Hivep3tm3Glm/Hivep3tm3Glm
Tg(Prrx1-cre)1Cjt/0
involves: C57BL/6 * C57BL/6J * SJL/J MGI:5550518
cn81
Stk3tm1Yy/Stk3tm1.1Yy
Stk4tm1.1Yy/Stk4tm1.1Yy
Tg(Prrx1-cre)1Cjt/0
involves: C57BL/6 * CBA * SJL MGI:4422181
cn82
Spoptm1c(KOMP)Mbp/Spoptm1c(KOMP)Mbp
Tg(Prrx1-cre)1Cjt/0
involves: C57BL/6J * C57BL/6N * SJL/J MGI:5896741
cn83
Acvr1tm2.1Vlcg/Acvr1+
Tg(Prrx1-cre)1Cjt/0
involves: C57BL/6J * C57BL/6NTac * SJL/J MGI:5881966
cn84
2700049A03Riktm1.1Arte/2700049A03Riktm1.1Arte
Tg(Prrx1-cre)1Cjt/0
involves: C57BL/6J * C57BL/6NTac * SJL/J MGI:5287593
cn85
Runx1tm1.1Stkd/Runx1tm1.1Stkd
Runx2tm1Mjo/Runx2tm1Mjo
Tg(Prrx1-cre)1Cjt/0
involves: C57BL/6J * SJL/J MGI:4440959
cn86
Wlstm1Xzg/Wlstm1Xzg
Tg(Prrx1-cre)1Cjt/0
involves: C57BL/6J * SJL/J MGI:5426938
cn87
Kdrtm1Eze/Kdrtm1Eze
Tg(Prrx1-cre)1Cjt/0
involves: C57BL/6J * SJL/J MGI:3840963
cn88
Tbx5tm1Jse/Tbx5tm1Jse
Tg(Prrx1-cre)1Cjt/0
involves: C57BL/6J * SJL/J MGI:3623770
cn89
Flt1tm1Eze/Flt1tm1Eze
Tg(Prrx1-cre)1Cjt/0
involves: C57BL/6J * SJL/J MGI:3840962
cn90
Tg(Prrx1-cre)1Cjt/0
Usp34em1Qyn/Usp34em1Qyn
involves: C57BL/6J * SJL/J MGI:6256535
cn91
Runx1tm1.1Stkd/Runx1tm1.1Stkd
Tg(Prrx1-cre)1Cjt/0
involves: C57BL/6J * SJL/J MGI:4440958
cn92
Gt(ROSA)26Sortm4(EWSR1/ATF1)Mrc/Gt(ROSA)26Sor+
Tg(Prrx1-cre)1Cjt/?
involves: C57BL/6 * SJL MGI:5495317
cn93
Adamts9tm1.1Apte/Adamts9tm1.1Apte
Tg(Prrx1-cre)1Cjt/0
involves: C57BL/6 * SJL MGI:5603309
cn94
Bmp2tm1Cjt/Bmp2tm1Cjt
Tg(Prrx1-cre)1Cjt/0
involves: C57BL/6 * SJL MGI:3700047
cn95
Cxcl12tm1.1Sjm/Cxcl12tm1.1Sjm
Tg(Prrx1-cre)1Cjt/?
involves: C57BL/6 * SJL/J MGI:5488614
cn96
Sp7tm1Rnis/Sp7tm1Rnis
Tg(Prrx1-cre)1Cjt/0
involves: C57BL * C57BL/6 * CBA/JNCrlj * SJL/J MGI:5466673
cx97
Adamts5tm1Dgen/Adamts5tm1Dgen
Adamts9tm1.1Apte/Adamts9tm1.1Apte
Tg(Prrx1-cre)1Cjt/0
involves: 129P2/OlaHsd * C57BL/6 * SJL MGI:5603313
cx98
Gt(ROSA)26Sortm1(Grem1)Svok/Gt(ROSA)26Sor+
Tg(Prrx1-cre)1Cjt/0
involves: 129S1/Sv * C57BL/6J * SJL/J MGI:5588382
cx99
Adamts9tm1.1Apte/Adamts9tm1.2Apte
Tg(Prrx1-cre)1Cjt/0
involves: 129S4/SvJae * C57BL/6 * SJL MGI:5603310


Genotype
MGI:6378827
cn1
Allelic
Composition
Adamtsl2tm1c(KOMP)Wtsi/Adamtsl2tm1c(KOMP)Wtsi
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
B6.Cg-Adamtsl2tm1c(KOMP)Wtsi Tg(Prrx1-cre)1Cjt
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Adamtsl2tm1c(KOMP)Wtsi mutation (0 available); any Adamtsl2 mutation (26 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
• distal bones are disproportionately shorter (acromelic dysplasia)
• all forelimb bones are reduced in length and the diaphyseal and metaphyseal regions of forelimb bones are wider
• hind limb bones are shorter and their diaphyseal and metaphyseal regions are wider
• in mice older than 9 months, bone shortening persists in metatarsals and the tibia, but not in the forelimb (metacarpals, humerus, radius, ulna)
• however, no abnormalities in the growth plate are seen and no difference in collagens or proteoglycans are seen
• radii are shorter at birth but this shortening does not persist in mice older than 9 months
• however, no differences in the length of metacarpals and the ulna are seen at P0
• short tibia in P18 mice and bone shortening persists in the tibia in mice older than 9 months of age
• metatarsals are shorter at birth and this bone shortening persists in mice older than 9 months

muscle
• Achilles tendon is shorter and wider and its origin from the gastrocnemius is poorly defined
• Achilles tendons are tethered to surrounding tissue, similar to severe peri-tendon fibrosis
• the distribution of collagen fibril diameter is skewed toward larger fibrils in Achilles tendon
• tendons show disorganization of linear tenocyte arrays
• shape of tenocytes is irregular
• the distribution of collagen fibril diameter is skewed toward larger fibrils in Achilles tendon
• tendons show disarray of collagen fiber orientation, with no changes in the directionality but an increase in the dispersion, indicating a wider range of directional angles

skeleton
• all forelimb bones are reduced in length and the diaphyseal and metaphyseal regions of forelimb bones are wider
• hind limb bones are shorter and their diaphyseal and metaphyseal regions are wider
• in mice older than 9 months, bone shortening persists in metatarsals and the tibia, but not in the forelimb (metacarpals, humerus, radius, ulna)
• however, no abnormalities in the growth plate are seen and no difference in collagens or proteoglycans are seen
• radii are shorter at birth but this shortening does not persist in mice older than 9 months
• however, no differences in the length of metacarpals and the ulna are seen at P0
• short tibia in P18 mice and bone shortening persists in the tibia in mice older than 9 months of age
• metatarsals are shorter at birth and this bone shortening persists in mice older than 9 months
• Achilles tendon is shorter and wider and its origin from the gastrocnemius is poorly defined
• Achilles tendons are tethered to surrounding tissue, similar to severe peri-tendon fibrosis
• the distribution of collagen fibril diameter is skewed toward larger fibrils in Achilles tendon
• tendons show disorganization of linear tenocyte arrays
• shape of tenocytes is irregular
• the distribution of collagen fibril diameter is skewed toward larger fibrils in Achilles tendon
• tendons show disarray of collagen fiber orientation, with no changes in the directionality but an increase in the dispersion, indicating a wider range of directional angles
• P16-P20 long bone diaphysis are less sculpted, lacking the characteristic narrowing in the central regions of the diaphysis and have a stubby appearance, most noticeable in the metacarpals and metatarsals
• - the diaphyseal regions of forelimb and hind limb bones are wider
• the metaphyseal regions of forelimb and hind limb bones are wider

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
geleophysic dysplasia 1 DOID:0111725 OMIM:231050
J:280264




Genotype
MGI:5791894
cn2
Allelic
Composition
Fermt2tm1.1Gxo/Fermt2+
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
B6.Cg-Fermt2tm1.1Gxo Tg(Prrx1-cre)1Cjt
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fermt2tm1.1Gxo mutation (0 available); any Fermt2 mutation (27 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype
N
• mice are viable and fertile and do not show any skeletal phenotypes in calvaria, forelimb, hindlimb, sternum, and clavicle at E16.5 and E18.5




Genotype
MGI:5791895
cn3
Allelic
Composition
Fermt2tm1.1Gxo/Fermt2tm1.1Gxo
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
B6.Cg-Fermt2tm1.1Gxo Tg(Prrx1-cre)1Cjt
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fermt2tm1.1Gxo mutation (0 available); any Fermt2 mutation (27 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• all mice die immediately after birth

cardiovascular system
• all E16.5 embryos show a hematoma on the top of the head which grows larger over time (E18.5 and P0)

craniofacial
• complete loss of the skull vault at E16.5, E18.5 and P0

skeleton
• marked increase of chondrocyte apoptosis noted in the proliferative zone at E14.5 and in the hypertrophic zone at E16.5, as detected by TUNEL staining of humeral growth plates
• upregulation of cleaved (active) caspase-3 in E14.5 chondrocytes, consistent with increased cell apoptosis
• significant reduction in chondrocyte proliferation rate, as shown by BrdU staining of E14.5 humeral growth plates
• all E14.5-P0 mice exhibit multiple striking skeletal defects
• however, overall body size is not markedly different from that of controls
• complete loss of the skull vault at E16.5, E18.5 and P0
• significant reduction in clavicle length at E18.5
• severe hypoplasia of the clavicle at E18.5
• chondrocytes fail to form regular columns in the proliferative zone of humeral growth plates, unlike in controls
• absence of an organized hypertrophic zone in humeral growth plates at E14.5
• large spherical chondrocytes are scattered throughout the humeral growth plate, instead of forming the highly organized hypertrophic zone seen in controls
• significant reduction in the length of all long bones (femur, tibia, humerus, radius and ulna) and their respective bony portions at E18.5
• blocked (forelimb) or delayed (hindlimb) elongation of distal phalanges at E18.5
• at E18.5
• at E18.5
• at E18.5
• at E18.5
• at E18.5
• shortened and broadened scapula at E18.5
• at E18.5
• shortened, broadened and fused sterna at E18.5
• fused sterna at E18.5
• at E18.5
• at E18.5
• chondrocytes are large and spherical instead of discoid, suggesting increased chondrocyte hypertrophy
• severe reduction of chondrocyte density in humeral growth plates starting at E14.5 and worsening over time
• significant reduction of chondrocyte density in tibial growth plates at E16.5 and E18.5
• chondrodysplasia
• severe delay in primary ossification center (POC) formation in the humerus, with no POC noted at E16.5, a partially formed POC at E18.5, and a significantly shorter POC at PO relative to controls
• similar delay in formation of ossification centers in digits (phalange bones)
• severe defects in intramembranous ossification, as shown by the complete loss of the skull vault and severe clavicle hypoplasia

limbs/digits/tail
• blocked (forelimb) or delayed (hindlimb) elongation of distal phalanges at E18.5
• impaired elongation of distal digits
• at E18.5
• at E18.5
• at E18.5
• at E18.5
• at E18.5
• shortened and broadened limbs at E18.5
• severe forelimb and hindlimb shortening at E18.5

cellular
• marked increase of chondrocyte apoptosis noted in the proliferative zone at E14.5 and in the hypertrophic zone at E16.5, as detected by TUNEL staining of humeral growth plates
• upregulation of cleaved (active) caspase-3 in E14.5 chondrocytes, consistent with increased cell apoptosis
• significant reduction in chondrocyte proliferation rate, as shown by BrdU staining of E14.5 humeral growth plates




Genotype
MGI:4453963
cn4
Allelic
Composition
Gli3Xt-J/Gli3Xt-J
Hand2tm1.1Zllr/Hand2tm1.2Zllr
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
involves: 129 * BALB/cJ * C3H/HeJ * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gli3Xt-J mutation (3 available); any Gli3 mutation (10 available)
Hand2tm1.1Zllr mutation (0 available); any Hand2 mutation (1 available)
Hand2tm1.2Zllr mutation (0 available); any Hand2 mutation (1 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
• digits with undetermined identities in forelimb autopod at E14.5
• extreme postaxial polydactyly in forelimb autopod at E14.5
• extreme preaxial polydactyly in forelimb autopod at E14.5
• shortening of the stylopod in forelimbs at E14.5
• symmetrical forelimb zeugopodal bones and elbow joints at E14.5
• duplicated elbow-like structure in forelimbs at E14.5
• stunted forelimbs at E14.5
• little phenotypic variability
• survival of the zeugopod and autopod progenitors is restored in contrast to Tg(Prrx1-cre)1Cjt/o, Hand2tm1.1Zllr, Hand2tm1.2Zllr limbs




Genotype
MGI:3848912
cn5
Allelic
Composition
Gt(ROSA)26Sortm5(Etv4/en,-GFP)Amc/Gt(ROSA)26Sor+
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
involves: 129 * C57BL/6 * CBA * SJL/J * Swiss Webster
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sortm5(Etv4/en,-GFP)Amc mutation (0 available); any Gt(ROSA)26Sor mutation (556 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
• less well-formed ectopic cartilaginous elements are observed in the anterior limb unlike in wild-type mice
• the most anterior digit contains three phalanges instead of the normal two
• mice have 6 to 7 digits unlike in wild-type mice
• in some cases, the ectopic digit is more centrally located and consists of three phalangeal elements without an additional metacarpal element

skeleton
• the most anterior digit contains three phalanges instead of the normal two




Genotype
MGI:3848913
cn6
Allelic
Composition
Fgfr1tm1.1Jpa/Fgfr1+
Gt(ROSA)26Sortm5(Etv4/en,-GFP)Amc/Gt(ROSA)26Sor+
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
involves: 129 * C57BL/6 * CBA * SJL/J * Swiss Webster
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr1tm1.1Jpa mutation (0 available); any Fgfr1 mutation (170 available)
Gt(ROSA)26Sortm5(Etv4/en,-GFP)Amc mutation (0 available); any Gt(ROSA)26Sor mutation (556 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
• at P1, mice exhibit a more severe zeugopod phenotypes than in Gt(ROSA)26Sortm5(Etv4/en,-GFP)Amc/Gt(ROSA)26Sor+ Tg(Prrx1-cre)1Cjt mice




Genotype
MGI:3848911
cn7
Allelic
Composition
Gt(ROSA)26Sortm5(Etv4/en,-GFP)Amc/Gt(ROSA)26Sor+
Shhtm1Amc/Shhtm2Amc
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
involves: 129 * C57BL/6 * CBA * SJL/J * Swiss Webster
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sortm5(Etv4/en,-GFP)Amc mutation (0 available); any Gt(ROSA)26Sor mutation (556 available)
Shhtm1Amc mutation (1 available); any Shh mutation (30 available)
Shhtm2Amc mutation (1 available); any Shh mutation (30 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
• at P1, digits appear posteriorized comparing relative digit length and phalanx morphology with that of controls Shhtm1Amc/Shhtm2Amc Tg(Prrx1-cre)1Cjt mice
• however, mice have the same number of digits as in Shhtm1Amc/Shhtm2Amc Tg(Prrx1-cre)1Cjt mice




Genotype
MGI:3828285
cn8
Allelic
Composition
Gt(ROSA)26Sortm3(Gli3)Amc/Gt(ROSA)26Sor+
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
involves: 129 * C57BL/6J * CBA * SJL/J * Swiss Webster
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sortm3(Gli3)Amc mutation (1 available); any Gt(ROSA)26Sor mutation (556 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
• mice exhibit variable preaxial forelimb polydactyly
• limb truncation

skeleton
• mice exhibit reduced mineralization




Genotype
MGI:3811612
cn9
Allelic
Composition
Tbx4tm1.1Pa/Tbx4tm1.2Pa
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
involves: 129 * C57BL/6J * FVB/N * SJL/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tbx4tm1.1Pa mutation (1 available); any Tbx4 mutation (16 available)
Tbx4tm1.2Pa mutation (1 available); any Tbx4 mutation (16 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
• at E15.5, mice exhibit mild or nonexistent anterior digit fusions
• the second digit of the foot is reduced compared to in wild-type mice
• mice exhibit a partial fusion of the tarsals
• however, despite reduced hindlimb features apoptosis rates in the hindlimb are normal
• hindlimbs are turned nearly backwards and do not articulate with the pelvis unlike in wild-type mice
• at E15.5, mice exhibit severely hypoplastic femurs that fail to ossify
• at E15.5, mice exhibit hypoplastic fibulas that fail to ossify

skeleton
• at E15.5, mice exhibit mild or nonexistent anterior digit fusions
• mice exhibit a partial fusion of the tarsals
• at E15.5, mice exhibit severely hypoplastic femurs that fail to ossify
• at E15.5, mice exhibit hypoplastic fibulas that fail to ossify
• at E15.5, mice exhibit hypoplastic pelvis
• the ischium is fused to the illeum
• neonates exhibit small hips
• the pelvic rami are absent and the ischium is fused to the illeum
• however, apoptosis rates in the hindlimb are normal




Genotype
MGI:3840961
cn10
Allelic
Composition
Nrp1tm2Ddg/Nrp1tm2Ddg
Nrp2tm1Ddg/Nrp2tm1Ddg
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
involves: 129 * C57BL/6J * SJL/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nrp1tm2Ddg mutation (1 available); any Nrp1 mutation (50 available)
Nrp2tm1Ddg mutation (0 available); any Nrp2 mutation (28 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
N
• no major abnormalities in limb vascular patterning are detected at E13.5




Genotype
MGI:3589871
cn11
Allelic
Composition
Dicer1tm1Bdh/Dicer1tm1Bdh
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
involves: 129 * C57BL/6J * SJL/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dicer1tm1Bdh mutation (4 available); any Dicer1 mutation (63 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
• forelimbs show loss of digits and some fusion of digits
• at E11 the forelimbs are smaller and at E12.5 the forelimb size resembles that of wild-type forelimbs at E11.5
• starting at E10.5 increased cell death is seen in the limb mesoderm
• the hindlimbs are smaller but not as severely affected as the forelimbs
• starting at E12.5 increased cell death is seen in the limb mesoderm

skeleton
• the long bones of the arms and legs appear twisted
• bone formation from cartilage is delayed in the long bones of the limbs




Genotype
MGI:5550510
cn12
Allelic
Composition
Hivep3tm3Glm/Hivep3+
Map2k1tm1Chrn/Map2k1tm1Chrn
Map2k2tm1Chrn/Map2k2tm1Chrn
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
involves: 129 * C57BL/6J * SJL * SJL/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hivep3tm3Glm mutation (0 available); any Hivep3 mutation (21 available)
Map2k1tm1Chrn mutation (1 available); any Map2k1 mutation (93 available)
Map2k2tm1Chrn mutation (1 available); any Map2k2 mutation (21 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton




Genotype
MGI:5086015
cn13
Allelic
Composition
Ctnnb1tm2Kem/Ctnnb1+
Amer1tm1.1Nbar/Y
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
involves: 129 * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Amer1tm1.1Nbar mutation (0 available); any Amer1 mutation (0 available)
Ctnnb1tm2Kem mutation (1 available); any Ctnnb1 mutation (24 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
N
• suppression of bone abnormalities (malformation of the deltoid tuberosity and sternum and accumulation of cortical bone) seen in mutant mice wild-type for Ctnnb1




Genotype
MGI:5086016
cn14
Allelic
Composition
Ctnnb1tm2Kem/Ctnnb1+
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
involves: 129 * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ctnnb1tm2Kem mutation (1 available); any Ctnnb1 mutation (24 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• slight reduction in bone size




Genotype
MGI:5285376
cn15
Allelic
Composition
Sox11tm2.1Weg/Sox11tm2.1Weg
Sox4tm1Vlf/Sox4tm1Vlf
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
involves: 129 * C57BL/6 * SJL/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sox11tm2.1Weg mutation (0 available); any Sox11 mutation (1 available)
Sox4tm1Vlf mutation (0 available); any Sox4 mutation (12 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
• large increase in cell death in limb bud mesenchyme without a decrease in cell proliferation

embryo
• large increase in cell death in limb bud mesenchyme without a decrease in cell proliferation




Genotype
MGI:5428660
cn16
Allelic
Composition
Recktm2.1Noda/Recktm2.2Noda
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J * FVB/N * SJL/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Recktm2.1Noda mutation (1 available); any Reck mutation (34 available)
Recktm2.2Noda mutation (1 available); any Reck mutation (34 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
N
• authors state that mice exhibit the same defects as in Recktm1.1Noda/Recktm2.1Noda mice




Genotype
MGI:5441208
cn17
Allelic
Composition
Gjb2tm3.1(Gjb1)Kwi/Gjb2+
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J * SJL * SJL/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gjb2tm3.1(Gjb1)Kwi mutation (0 available); any Gjb2 mutation (16 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype
• mice are viable and show no obvious phenotypic abnormalities




Genotype
MGI:5468942
cn18
Allelic
Composition
Cxcl12tm1Tng/Cxcl12tm1.1Link
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6 * FVB/N * SJL/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cxcl12tm1.1Link mutation (1 available); any Cxcl12 mutation (9 available)
Cxcl12tm1Tng mutation (1 available); any Cxcl12 mutation (9 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
• reduced B cell lymphoid progenitors
• in the bone marrow
• bone marrow cells exhibit multilineage long-term repopulating defects
• however, self-renewal capacity is restored by transplantation into a wild-type environment
• increased cycling of hematopoietic stem cells and more mature KSL progenitors in the spleen

immune system
• in the bone marrow




Genotype
MGI:5320443
cn19
Allelic
Composition
Cdc42tm1.1Ayam/Cdc42tm1.1Ayam
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6 * ICR * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdc42tm1.1Ayam mutation (0 available); any Cdc42 mutation (39 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• more than 90% (42 of 46) of mice die within a few days of birth

behavior/neurological
• absence of milk from the stomachs of many neonates
• appear weaker at birth

craniofacial
• failure of palatal shelf elongation
• at P0

limbs/digits/tail
• short, thick and webbed limbs
• decreased at E12.5 - E14.5
• ectopic cartilage is present between the 2nd and 3rd digits in the forelimbs at E14.5, E15.5, E16.5, E18.5 and P0
• at E15.5, E16.5, E18.5 and P0 autopods display thick cartilage and abnormal joints
• at E15.5, E16.5, E18.5 and P0 autopods display abnormal joints
• fusion of the phalanges/metatarsals on the forelimbs at E18
• hindlimbs show only soft tissue syndactyly
• webbing between the 1st and 2nd, 2nd and 3rd, and 3rd and 4th digits
• shorter and thicker mineralized bones in the fore- and hindlimbs in neonates
• fusion of the 2nd and 3rd metacarpal bones
• however, no fusion of the metatarsal bones is seen
• in mice that survive to weaning

growth/size/body
• failure of palatal shelf elongation
• at P0
• smaller at birth
• in mice that survive to weaning

digestive/alimentary system
• failure of palatal shelf elongation
• at P0

skeleton
• shorter and thicker mineralized bones in the fore- and hindlimbs in neonates
• fusion of the phalanges/metatarsals on the forelimbs at E18
• fusion of the 2nd and 3rd metacarpal bones
• however, no fusion of the metatarsal bones is seen
• non-resorbed hypertrophic cartilage remains in the growth plates
• columnar disorganization of the proliferating and hypertrophic chondrocytes in neonates
• malformed or lost in mice with a split sternum
• the sternal bar is frequently bifurcated
• in culture mesenchymal cells from E12.5 fore- and hindlimbs display inhibition of chondrocyte differentiation
• at E15.5, E16.5, E18.5 and P0 autopods display abnormal joints
• at E15.5, E16.5, E18.5 and P0 autopods display abnormal joints
• neonates display abnormal calcification of the cranium; including the frontal, parietal, and interparietal bones
• retarded fusion of the fontanel is seen at P0

cellular
• decreased at E12.5 - E14.5




Genotype
MGI:3710956
cn20
Allelic
Composition
Ift88tm1Bky/Ift88tm1.1Bky
Tg(Prrx1-cre)1Cjt/?
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6J * SJL/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ift88tm1.1Bky mutation (0 available); any Ift88 mutation (5 available)
Ift88tm1Bky mutation (1 available); any Ift88 mutation (5 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• at E18.5, mice display varying severities of endochondral bone defects in all long bones with dramatic reduction in overall length
• mice lack expression of an osteoblast-specific marker (alkaline phosphates) in the perichondrium
• cells adjacent to the perichondrium resemble chondrocytes rather than osteoblast
• at E18.5, proliferating chondrocytes in the growth region of the tibia are round and flat
• at E18.5, only small cilia are occasionally observed on chondrocytes of the developing tibia
• at E18.5, ectopic chondrocytes are seen in the perichondrium
• at E18.5, perichondrial cells are disorganized, do not adopt the characteristic flattened morphology and are not evenly distributed along the bone
• at E18.5, bone collar formation is absent in the tibia
• at E18.5, some cells in the perichondrium appear to be differentiating into chondrocytes rather than into osteoblasts
• at E18.5, bone vascularization is delayed and hypertrophic cells persist
• at E18.5, the growth region of the tibia contains only a small disorganized area of round and flat proliferating chondrocytes
• at E18.5, the growth region of the tibia contains only a small disorganized area of round and flat proliferating chondrocytes
• only some regions of the tibia contain mineralized bone

limbs/digits/tail
• at E11.5, very few cells with cilia are present in the limb mesenchyme
• however, cilia of the overlying ectoderm is normal
• at E18.5, mice have 8 or more non-patterned digits on their forelimbs while each hindlimb has a single extra preaxial digit (typically a duplication of digit 1)
• however, limb patterning is normal
• at E13.5 and P11, all four limbs are shortened in the proximodistal axis

growth/size/body
• mice are smaller postnatally

embryo
• at E11.5, very few cells with cilia are present in the limb mesenchyme
• however, cilia of the overlying ectoderm is normal




Genotype
MGI:3713244
cn21
Allelic
Composition
Efnb1tm1Rha/Efnb1+
Tg(Prrx1-cre)1Cjt/?
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6J * SJL/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Efnb1tm1Rha mutation (4 available); any Efnb1 mutation (14 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail




Genotype
MGI:5297381
cn22
Allelic
Composition
Tnfsf11tm1.1Caob/Tnfsf11tm1.1Caob
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(Prrx1-cre)1Cjt mutation (2 available)
Tnfsf11tm1.1Caob mutation (1 available); any Tnfsf11 mutation (25 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
N
• mice exhibit normal bone mass and tooth eruption
• in the femur but not the spine
• severe
• mice exhibit unresorbed cartilage unlike wild-type mice
• widened growth plate in the femur

immune system

hematopoietic system




Genotype
MGI:5439641
cn23
Allelic
Composition
Fbn1tm1.1Itl/Fbn1tm3Rmz
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6J * SJL/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fbn1tm1.1Itl mutation (0 available); any Fbn1 mutation (9 available)
Fbn1tm3Rmz mutation (0 available); any Fbn1 mutation (9 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• increased trabecular space
• worse trabeculae morphology compared with Fbn1tm2Rmz homozygotes

hematopoietic system
• bone marrow stromal cells exhibit more colony forming unit fibroblast than wild-type cells




Genotype
MGI:4453962
cn24
Allelic
Composition
Hand2tm1.1Zllr/Hand2tm1.2Zllr
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * BALB/cJ * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hand2tm1.1Zllr mutation (0 available); any Hand2 mutation (1 available)
Hand2tm1.2Zllr mutation (0 available); any Hand2 mutation (1 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
• distal truncations of the forelimb skeleton and loss of the autopod in most severely affected cases at E14.5 (35%)
• fused tarsal bones in hindlimb at E14.5
• variable skeletal phenotypes at E14.5
• shortened and fused radius and ulna in most severely affected cases (35%)
• formation of two misplaced zeugopodal bones (39%) in the most hypomorphic phenotype (weak)
• formation of one zeugopodal bone (26%) in the less hypomorphic phenotype (intermediate)
• formation of an autopod with 4-5 digits in hindlimb at E14.5
• the formation of digit 2 and/or 3 in hindlimb is always affected
• variable skeletal phenotypes in forelimb at E14.5
• distal truncations of the forelimb skeleton and loss of the autopod in most severely affected cases at E14.5 (35%)
• formation of three anterior digits and a hypoplastic digit that resembles digit 4 (39%) in the most hypomorphic phenotype (weak) in forelimb
• formation of two digits (26%) in the less hypomorphic phenotype (intermediate) in forelimb
• formation of an autopod with 4-5 digits in hindlimb at E14.5
• the formation of digit 2 and/or 3 in hindlimb is always affected
• in the most severely affected forelimb buds, the apoptotic domain expands distal-anterior along the entire proximo-distal axis at E10.25, E10.75 and E11

cellular
• in the most severely affected forelimb buds, the apoptotic domain expands distal-anterior along the entire proximo-distal axis at E10.25, E10.75 and E11
• in the most severely affected forelimb buds, the apoptotic domain expands distal-anterior along the entire proximo-distal axis at E10.25, E10.75 and E11




Genotype
MGI:5493228
cn25
Allelic
Composition
Nf1tm1Par/Nf1tm1Par
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * C57BL/6N * SJL/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nf1tm1Par mutation (4 available); any Nf1 mutation (20 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• callus following fracture shows increased number of osteoclasts; most osteoclasts are localized within fibrous tissue and not on the bone surface as in controls
• mutants exhibit delayed and defective fracture healing characterized by diminished cartilaginous callus formation, increased bone formation near the cortical bone on the periosteum but not in the fracture gap, and persistence of cartilage at day 21 such that bony bridging is not observed
• while total callus volume following fracture is larger in mutants at day 7 and 10 due to rapid initial growth of fibrous tissue (desmal type ossification), by day 14 and 21, the total callus volume is significantly smaller
• accumulation and persistence of fibrous tissue in the fracture gap, with increased numbers of osteoclasts
• increase in number of blood vessels in mutant fractures (in callus) compared to controls, indicating increased vascularization of the fracture tissue, however no osteogenesis results from this increased vascularization
• ectopic fat tissue is seen in the fracture site
• decrease of regenerative tissue bone mineral density following fracture
• dramatic cortical bone thickening following fracture
• fewer osteoblasts are seen within the fracture gap throughout healing compared to controls, however, osteoblast number is increased at the periosteal surface
• bone fractures exhibit impaired cartilage formation and increased periosteal ossification at the cortices
• presence of large areas of non-mineralized osteoid in the fracture gap, indicating decreased mineralization of the extracellular matrix
• thickening of the osteoid layer in the periosteal region following fracture
• endochondrial formation is impaired following fracture but periosteal bone formation is enhanced
• bones are weaker; femora show lower torsional stiffness and ultimate torque at failure compared to controls
• fractured bones of mutants that are allowed to heal also exhibit a lower torsional stiffness and ultimate torque at failure compared to controls

homeostasis/metabolism
• mutants exhibit delayed and defective fracture healing characterized by diminished cartilaginous callus formation, increased bone formation near the cortical bone on the periosteum but not in the fracture gap, and persistence of cartilage at day 21 such that bony bridging is not observed
• while total callus volume following fracture is larger in mutants at day 7 and 10 due to rapid initial growth of fibrous tissue (desmal type ossification), by day 14 and 21, the total callus volume is significantly smaller
• accumulation and persistence of fibrous tissue in the fracture gap, with increased numbers of osteoclasts
• increase in number of blood vessels in mutant fractures (in callus) compared to controls, indicating increased vascularization of the fracture tissue, however no osteogenesis results from this increased vascularization
• ectopic fat tissue is seen in the fracture site

hematopoietic system
• callus following fracture shows increased number of osteoclasts; most osteoclasts are localized within fibrous tissue and not on the bone surface as in controls

immune system
• callus following fracture shows increased number of osteoclasts; most osteoclasts are localized within fibrous tissue and not on the bone surface as in controls

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
neurofibromatosis DOID:8712 J:193350




Genotype
MGI:5014231
cn26
Allelic
Composition
Lrp5tm2Mawa/Lrp5+
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lrp5tm2Mawa mutation (2 available); any Lrp5 mutation (51 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• in the limbs but not in the spine




Genotype
MGI:3800355
cn27
Allelic
Composition
Sox5tm2Vlf/Sox5tm2Vlf
Tg(Prrx1-cre)1Cjt/?
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sox5tm2Vlf mutation (0 available); any Sox5 mutation (10 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype
• normal appearance at birth
• viable and fertile




Genotype
MGI:3800358
cn28
Allelic
Composition
Sox5tm2Vlf/Sox5tm2Vlf
Sox6tm2.1Vlf/Sox6tm2.1Vlf
Tg(Prrx1-cre)1Cjt/?
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sox5tm2Vlf mutation (0 available); any Sox5 mutation (10 available)
Sox6tm2.1Vlf mutation (0 available); any Sox6 mutation (5 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• small size

limbs/digits/tail
• paws lack mineralized bone
• lacks cartillage
• lacks cartillage
• lacks cartillage
• lacks cartillage

skeleton
• lacks cartillage
• lacks cartillage
• lacks cartillage
• lacks cartillage
• at birth




Genotype
MGI:3800360
cn29
Allelic
Composition
Sox6tm2.1Vlf/Sox6tm2.1Vlf
Tg(Prrx1-cre)1Cjt/?
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sox6tm2.1Vlf mutation (0 available); any Sox6 mutation (5 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype
• normal appearance at birth
• viable and fertile




Genotype
MGI:5014230
cn30
Allelic
Composition
Lrp5tm1Mawa/Lrp5+
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lrp5tm1Mawa mutation (1 available); any Lrp5 mutation (51 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• in the limbs but not in the spine




Genotype
MGI:5492109
cn31
Allelic
Composition
Nf1tm1Par/Nf1tm1Par
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nf1tm1Par mutation (4 available); any Nf1 mutation (20 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• weight is on average reduced by 25%

limbs/digits/tail
• short-limbed dwarfism, with mutants showing a reduction in entire limb size

muscle
• mutants exhibit muscle dystrophy
• large areas of dystrophic musculature are occupied by fat tissue
• muscle connective tissue shows increased proliferation at E14.5 and an increase in connective tissue in muscles is already seen at E16.5
• muscle fibers are thinned out at E16.5
• marker analysis indicates a defect in muscle formation at E13.5, with specific muscle primordial reduced in size or entirely missing; approximate 30% reduction in the m. triceps size and about 50% reduction in the m. gluteus maximus size of E13.5 embryos
• the m. latissimus dorsi appears smaller and shows rarefaction of muscle fibers
• distal muscle groups in the extremities are most affected, with some muscles completely missing, indicating that the muscle differentiation process is disturbed
• defect in myogenesis affecting the terminal differentiation of myoblasts between E12.5 and E14.5
• maker analysis indicates a severe disruption of myoblast terminal differentiation
• marker analysis indicates that migration and proliferation of pre-muscle cells at E11.5 are normal but increased proliferation of myoblasts in ventral muscle masses is seen
• muscles show a 20% increase in the number of fibers with cleft-like invaginations (split fibers)
• muscle fiber size appears more variable than in controls, however no overt muscle regeneration is seen
• total number of muscle fibers is reduced by 50% in the triceps
• weight of triceps muscle is reduced by more than 50%
• reduction in muscle size and mass
• generalized muscle fibrosis, characterized by expansion of collagen-rich connective tissue, and reduction in total number of muscle fibers
• in the force gauge pull test, mice show a dramatic reduction in muscle force
• satellite cells exhibit normal self-renewal but impaired differentiation as indicated by diminished myotube formatio

cellular
• maker analysis indicates a severe disruption of myoblast terminal differentiation
• marker analysis indicates that migration and proliferation of pre-muscle cells at E11.5 are normal but increased proliferation of myoblasts in ventral muscle masses is seen

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
neurofibromatosis DOID:8712 J:173779




Genotype
MGI:5550091
cn32
Allelic
Composition
Gata6tm2.1Sad/Gata6tm2.1Sad
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gata6tm2.1Sad mutation (1 available); any Gata6 mutation (7 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
• 100% penetrance of preaxial hindlimb polydactyly with a variable number of supernumerary digits
• forelimb digits are not affected




Genotype
MGI:5550092
cn33
Allelic
Composition
Gt(ROSA)26Sortm1(rtTA,EGFP)Nagy/Gt(ROSA)26Sor+
Tg(Prrx1-cre)1Cjt/0
Tg(tetO-Gata6)1Abl/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sortm1(rtTA,EGFP)Nagy mutation (3 available); any Gt(ROSA)26Sor mutation (556 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
Tg(tetO-Gata6)1Abl mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
• forelimbs and hindlimbs of pups exhibit a reduction in the number of digits following doxycycline administration to dams from E4.5 to E11.5




Genotype
MGI:5775444
cn34
Allelic
Composition
Gata4tm1.1Sad/Gata4tm1.2Sad
Pax3Sp-d/Pax3Sp-d
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gata4tm1.1Sad mutation (1 available); any Gata4 mutation (23 available)
Gata4tm1.2Sad mutation (0 available); any Gata4 mutation (23 available)
Pax3Sp-d mutation (1 available); any Pax3 mutation (38 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
muscle
N
• mice do not develop diaphragmatic hernias

respiratory system
N
• mice do not exhibit lung defects




Genotype
MGI:5550094
cn35
Allelic
Composition
Gata6tm2.1Sad/Gata6tm2.1Sad
Shhtm2Amc/Shhtm2Amc
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gata6tm2.1Sad mutation (1 available); any Gata6 mutation (7 available)
Shhtm2Amc mutation (1 available); any Shh mutation (30 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
• hindlimbs have four digits




Genotype
MGI:5775440
cn36
Allelic
Composition
Gata4tm1.1Sad/Gata4tm1.2Sad
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gata4tm1.1Sad mutation (1 available); any Gata4 mutation (23 available)
Gata4tm1.2Sad mutation (0 available); any Gata4 mutation (23 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• most mice die within a few hours of birth

muscle
• mice exhibit a defect in the number and localization of muscle progenitors at E12.5
• at E14.5, differentiating myofibers are aberrant and myofibers and Pax7+ and MyoD+ muscle progenitors are absent in localized regions
• the number of muscle progenitors is reduced by increased cell death and decreased proliferation
• 100% of mice develop multiple hernias throughout the diaphragm
• overt herniation of liver through the diaphragm first occurs at E16.5
• size and location of hernias vary, with 68% forming in the dorsal lateral diaphragm (Bochdalek hernias) and 32% developing in the ventral diaphragm (Morgagni hernias)
• hernias occur only in muscle-associated regions and not in the central tendon
• increase in the number of apoptotic cells in E12.5 embryos, many of which are present in regions that are abnormally devoid or muscle and consistently give rise to hernias
• decrease in the number of proliferative muscle progenitor cells in E12.5 embryos

homeostasis/metabolism
• mice exhibit low oxygen blood saturation

respiratory system
• defects in the lung lobar structure
• up to a 34% reduction in lung volume of lobes adjacent to hernias

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
congenital diaphragmatic hernia DOID:3827 OMIM:142340
OMIM:222400
OMIM:610187
J:231793




Genotype
MGI:5550093
cn37
Allelic
Composition
Gata6tm2.1Sad/Gata6tm2.1Sad
Gli1tm1Alj/Gli1tm1Alj
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gata6tm2.1Sad mutation (1 available); any Gata6 mutation (7 available)
Gli1tm1Alj mutation (0 available); any Gli1 mutation (10 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
• hindlimb polydactytly




Genotype
MGI:5049888
cn38
Allelic
Composition
Porcntm1.1Lcm/Y
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Porcntm1.1Lcm mutation (0 available); any Porcn mutation (15 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Tissue-specific Porcntm1.1Lcm deletion phenotypes include skeletal defects and skin abnormalities

limbs/digits/tail
• mice exhibit loss of distal digits compared with wild-type mice
• however, all individual skeletal elements are preserved
• at E17.5




Genotype
MGI:5003147
cn39
Allelic
Composition
Osr1tm2Jian/Osr1tm2Jian
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
involves: 129S1/Sv * C57BL/6J * SJL/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Osr1tm2Jian mutation (0 available); any Osr1 mutation (12 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
N
• mice exhibit normal synovial joints




Genotype
MGI:5003149
cn40
Allelic
Composition
Osr1tm2Jian/Osr1tm2Jian
Osr2tm1Jian/Osr2tm1Jian
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
involves: 129S1/Sv * C57BL/6J * SJL/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Osr1tm2Jian mutation (0 available); any Osr1 mutation (12 available)
Osr2tm1Jian mutation (1 available); any Osr2 mutation (9 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• mice exhibit disorganized interphalangeal and metacarpophalangeal joints compared with wild-type mice
• mice exhibit defects in joint cell differentiation compared to in wild-type mice
• wrist and ankle bones are abnormally shaped compared to in wild-type mice
• the humerus is fused to the ulna and radius unlike in wild-type mice
• the tibia is fused to the fibula at both the proximal and distal ends unlike in wild-type mice
• mice exhibit fusion of the intermediate cuneiform and navicular bones and fusion of the cuboidal and calcaneus bones unlike in wild-type mice
• mice exhibit delayed bone mineralization of the digital bones compared with wild-type mice

vision/eye




Genotype
MGI:4882102
cn41
Allelic
Composition
Ofd1tm2.1Bfra/Ofd1+
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
involves: 129S2/SvPas * C57BL/6J * SJL/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ofd1tm2.1Bfra mutation (0 available); any Ofd1 mutation (6 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
• in the first digit in each forelimb but not hindlimb
• at E16.5, the bone collar of the humerus is slightly reduced compared to in wild-type mice
• axoneme doublets are missing in the limb mesenchyme cilia unlike in wild-type mice
• axoneme doublets are missing in the limb mesenchyme cilia unlike in wild-type mice

embryo
• axoneme doublets are missing in the limb mesenchyme cilia unlike in wild-type mice

skeleton
• at E16.5, the bone collar of the humerus is slightly reduced compared to in wild-type mice




Genotype
MGI:4882101
cn42
Allelic
Composition
Ofd1tm2.1Bfra/Y
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
involves: 129S2/SvPas * C57BL/6J * SJL/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ofd1tm2.1Bfra mutation (0 available); any Ofd1 mutation (6 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• after P17, mice are so severely malformed that they are sacrificed

limbs/digits/tail
• cilia on limb mesenchyme are shorted than in wild-type mice
• axoneme doublets are missing in the limb mesenchyme cilia unlike in wild-type mice
• however, length of cilia on the apical ectodermal ridge and ventral ectoderm is normal
• severe with 7 to 9 unpatterned digits on each forelimb and a single extra digit on each hindlimb
• in 2 of 8 mice
• at E16.5, the bone collar of the humerus is almost absent unlike in wild-type mice

embryo
• cilia on limb mesenchyme are shorted than in wild-type mice
• axoneme doublets are missing in the limb mesenchyme cilia unlike in wild-type mice
• however, length of cilia on the apical ectodermal ridge and ventral ectoderm is normal

skeleton
• at E16.5, the bone collar of the humerus is almost absent unlike in wild-type mice
• at P0, the central ossified diaphysis is reduced compared to in wild-type mice
• reduced in the limbs at E16.5
• at E16.5, chondrocyte proliferation in the proximal ulna is decreased compared to in wild-type mice
• hypertrophic chondrocytes exhibit premature differentiation compared to in wild-type mice
• however, levels of chondrocyte apoptosis are normal




Genotype
MGI:3715863
cn43
Allelic
Composition
Del(2Hoxd11-Hoxd13)16Ddu/Del(2Hoxd11-Hoxd13)16Ddu
Hoxatm1Ddu/Del(6Hoxa)1Ddu
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
involves: 129S2/SvPas * C57BL/6J * SJL/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Del(2Hoxd11-Hoxd13)16Ddu mutation (0 available); any Del(2Hoxd11-Hoxd13)16Ddu mutation (0 available)
Del(6Hoxa)1Ddu mutation (0 available); any Del(6Hoxa)1Ddu mutation (0 available)
Hoxatm1Ddu mutation (0 available); any Hoxa mutation (0 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
• presence of Hoxd10 leads to better-developed and ossified zeugopod
• only rod-like structures are present distally on forelimb in newborn mice




Genotype
MGI:3715862
cn44
Allelic
Composition
Del(2Hoxd9-Hoxd12)20Ddu/Del(2Hoxd9-Hoxd12)20Ddu
Hoxatm1Ddu/Del(6Hoxa)1Ddu
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
involves: 129S2/SvPas * C57BL/6J * SJL/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Del(2Hoxd9-Hoxd12)20Ddu mutation (0 available); any Del(2Hoxd9-Hoxd12)20Ddu mutation (0 available)
Del(6Hoxa)1Ddu mutation (0 available); any Del(6Hoxa)1Ddu mutation (0 available)
Hoxatm1Ddu mutation (0 available); any Hoxa mutation (0 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
N
• when Hoxd13 is present, digits form on forelimb in newborn mice
• clear forearm is observed; structure is ill-formed, reduced, and poorly ossified




Genotype
MGI:3715861
cn45
Allelic
Composition
Del(2Hoxd8-Hoxd13)11Ddu/Del(2Hoxd8-Hoxd13)11Ddu
Hoxatm1Ddu/Del(6Hoxa)1Ddu
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
involves: 129S2/SvPas * C57BL/6J * SJL/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Del(2Hoxd8-Hoxd13)11Ddu mutation (0 available); any Del(2Hoxd8-Hoxd13)11Ddu mutation (0 available)
Del(6Hoxa)1Ddu mutation (0 available); any Del(6Hoxa)1Ddu mutation (0 available)
Hoxatm1Ddu mutation (0 available); any Hoxa mutation (0 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
• no genuine forearm in newborn mice
• abnormal segmented cartilaginous condensation is present, instead of digits, radii, or ulnae
• no genuine digits form on forelimb in newborn mice

skeleton




Genotype
MGI:3715860
cn46
Allelic
Composition
Del(2Hoxd10-Hoxd12)19Ddu/Del(2Hoxd10-Hoxd12)19Ddu
Hoxatm1Ddu/Del(6Hoxa)1Ddu
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
involves: 129S2/SvPas * C57BL/6J * SJL/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Del(2Hoxd10-Hoxd12)19Ddu mutation (0 available); any Del(2Hoxd10-Hoxd12)19Ddu mutation (0 available)
Del(6Hoxa)1Ddu mutation (0 available); any Del(6Hoxa)1Ddu mutation (0 available)
Hoxatm1Ddu mutation (0 available); any Hoxa mutation (0 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
N
• when Hoxd13 is present, digits form on forelimb in newborn mice
• clear forearm is observed; structure is ill-formed, reduced, and poorly ossified




Genotype
MGI:3628806
cn47
Allelic
Composition
Shox2tm1Ddu/Shox2tm1.1Ddu
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
involves: 129S2/SvPas * C57BL/6J * SJL/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Shox2tm1.1Ddu mutation (0 available); any Shox2 mutation (2 available)
Shox2tm1Ddu mutation (1 available); any Shox2 mutation (2 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Limb phenotype of Shox2tm1Ddu/Shox2tm1.1Ddu Tg(Prrx1-cre)1Cjt mice

mortality/aging
N
• provided adequate access to food and water homozygotes are viable

limbs/digits/tail
• development of the forelimb stylopod elements is severely impaired; however development of the forelimb zeugopd elements is similar to wild-type mice
• development of the hindlimb stylopod elements is severely impaired
• the hindlimb zeugopod is also shorter
• virtually absent at birth with only a small abnormal dorsal piece remaining that does not span the axis of the limb
• virtually absent at birth with only a tiny cartilage analage which lacks ossification is seen; in adults ossification is seen but little bone growth occurs
• markedly bowed

skeleton
• virtually absent at birth with only a small abnormal dorsal piece remaining that does not span the axis of the limb
• virtually absent at birth with only a tiny cartilage analage which lacks ossification is seen; in adults ossification is seen but little bone growth occurs
• markedly bowed
• hypertrophic chondrocytes eventually appear in the humerus but are in abnormal asymmetric locations blocking formation of the growth plate
• at E12.5, the humerus and femur cartilages are already significantly shorter (by about 50%) than in wild-type
• by E14.5 the humerus and femur cartilage malformation is as severe as in newborns
• chondrocyte differentiation in the humerus is impaired with markers for immature cells (Col2a1) still present at E18.5 and expression of later markers greatly decreased or absent

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Leri-Weill dyschondrosteosis DOID:0060847 OMIM:127300
J:107668




Genotype
MGI:3715858
cn48
Allelic
Composition
Del(2Hoxd10-Hoxd13)7Ddu/Del(2Hoxd10-Hoxd13)7Ddu
Hoxatm1Ddu/Del(6Hoxa)1Ddu
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
involves: 129S2/SvPas * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Del(2Hoxd10-Hoxd13)7Ddu mutation (0 available); any Del(2Hoxd10-Hoxd13)7Ddu mutation (0 available)
Del(6Hoxa)1Ddu mutation (0 available); any Del(6Hoxa)1Ddu mutation (0 available)
Hoxatm1Ddu mutation (0 available); any Hoxa mutation (0 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
• no genuine forearm in newborn mice
• abnormal segmented cartilaginous condensation is present, instead of digits, radii, or ulnae
• no genuine digits form on forelimb in newborn mice

skeleton




Genotype
MGI:5086009
cn49
Allelic
Composition
Amer1tm1.1Nbar/Y
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
involves: 129S4/SvJae * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Amer1tm1.1Nbar mutation (0 available); any Amer1 mutation (0 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• recapitulates appendicular skeletal phenotypes seen in germline null mice
• sharp reduction in the adipocyte content of long bones
• asymmetrical distribution of ossification centers
• increase in the proportion of early osteoblastic cells in primary bone marrow derived mesenchymal progenitor cell cultures compared to wild-type cultures indicating enhanced early osteogenic commitment
• decrease in the late differentiation of osteoblasts in primary bone marrow derived mesenchymal progenitor cell cultures
• primary bone marrow derived mesenchymal progenitor cell cultures continue to produce osteogenic cells under adipogenic conditions
• accumulation of cortical bone in adults
• increase in the osteoblast number relative to surface area
• accumulation of trabecular bone in adults
• increase in osteoid volume per bone volume indicates a delay in bone mineralization
• increase in bone mineralized surface per bone surface
• increased bone formation rate per tissue volume

adipose tissue
• sharp reduction in the adipocyte content of long bones
• severely compromised formation of oil red O-positive adipocytes in primary bone marrow derived mesenchymal progenitor cell cultures

limbs/digits/tail

cellular
• severely compromised formation of oil red O-positive adipocytes in primary bone marrow derived mesenchymal progenitor cell cultures
• increase in the proportion of early osteoblastic cells in primary bone marrow derived mesenchymal progenitor cell cultures compared to wild-type cultures indicating enhanced early osteogenic commitment
• decrease in the late differentiation of osteoblasts in primary bone marrow derived mesenchymal progenitor cell cultures
• primary bone marrow derived mesenchymal progenitor cell cultures continue to produce osteogenic cells under adipogenic conditions

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
osteopathia striata with cranial sclerosis DOID:0060886 OMIM:300373
J:173242




Genotype
MGI:3043045
cn50
Allelic
Composition
Bmp4tm1Jfm/Bmp4tm1.1Jfm
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
involves: 129S4/SvJaeSor
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp4tm1.1Jfm mutation (0 available); any Bmp4 mutation (17 available)
Bmp4tm1Jfm mutation (1 available); any Bmp4 mutation (17 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• severely reduced outflow tract cushions, which developed into a shortened outflow tract




Genotype
MGI:5435567
cn51
Allelic
Composition
Porcntm1.1Vdv/Y
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
involves: 129S4/SvJaeSor * 129S5/SvEvBrd * C57BL/6 * SJL/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Porcntm1.1Vdv mutation (1 available); any Porcn mutation (15 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Skeletal abnormalities in Porcntm1.1Vdv/Y Tg(Prrx1-cre)1Cjt/0 mice

growth/size/body
• become progressively stunted between P7 and P28

limbs/digits/tail
• soft tissue syndactyly in some mice on both the fore- and hindlimbs

skeleton
• long bones of all extremities and digits are short

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
focal dermal hypoplasia DOID:2120 OMIM:305600
J:186934




Genotype
MGI:4420983
cn52
Allelic
Composition
Ift172tm1.1Rama/Ift172tm1.2Rama
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
involves: 129S4/SvJaeSor * 129X1/SvJ * C57BL/6 * SJL/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ift172tm1.1Rama mutation (1 available); any Ift172 mutation (51 available)
Ift172tm1.2Rama mutation (0 available); any Ift172 mutation (51 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
• a single extra digit on each forelimb and hindlimb




Genotype
MGI:5775443
cn53
Allelic
Composition
Gt(ROSA)26Sortm1Sor/Gt(ROSA)26Sor+
Pax3Sp-d/Pax3Sp-d
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
involves: 129S4/SvJaeSor * C57BL/6J * SJL/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sortm1Sor mutation (7 available); any Gt(ROSA)26Sor mutation (556 available)
Pax3Sp-d mutation (1 available); any Pax3 mutation (38 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
muscle
• muscleless diaphragms
• however, pleuroperitoneal fold-derived muscle connective tissue is present and mice do not develop diaphragmatic hernias




Genotype
MGI:3700042
cn54
Allelic
Composition
Bmp2tm1Cjt/Bmp2tm1Cjt
Bmp4tm1Jfm/Bmp4tm1Jfm
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
involves: 129S4/SvJaeSor * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp2tm1Cjt mutation (0 available); any Bmp2 mutation (4 available)
Bmp4tm1Jfm mutation (1 available); any Bmp4 mutation (17 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Mice deficient singly or in various combinations of Bmp2, Bmp4 and Bmp7 display limb defects

immune system
• has not yet started at birth

embryo
• AER is expanded and maintained much later (>E15.5) than in wild-type
• at E11.5, limb buds are noticeably broader relative to wild-type

limbs/digits/tail
• interdigital apoptosis is reduced at E15.5
• AER is expanded and maintained much later (>E15.5) than in wild-type
• at E11.5, limb buds are noticeably broader relative to wild-type
• at E15.5 autopod adopts notched pallet form, with only distal tip of each digit separated
• autopod elements are reduced in size
• the two posterior-most digits are missing in the forelimbs
• in newborns, the digits of both forelimb and hindlimb show complete syndactyly
• in the limbs of E15.5 embryos, only the very distal tip of each digit is separated, with the autopod adopting the shape of a notched pallet
• mice have short and malformed stylopods
• one of the zeugopod elements is almost always missing, while the other is so deformed it is hard to accurately identify
• mice have short and malformed stylopods
• one of the zeugopod elements is almost always missing, while the other is so deformed it is hard to accurately identify

skeleton
• at 3 weeks, all mineralized cartilage in diaphyseal region has disappeared, leaving a void where bone formation should have occurred
• cavity formation is delayed
• loss of posterior digits in the forelimbs due to failure of chondrogenesis in this region as indicated by marker analysis
• joint articulations are defective such that the zeugopod and stylopod elements are fused
• 1-3 weeks after birth, no bone marrow cavity, trabecular bone, or cortical bone is present
• at 1-3 weeks after birth , bone formation is not observed in femur for example; skeletal elements in mutants remain similar to E17.5 structures seen in wild-type limbs
• in E17.5 limbs, delay in endochondral process is observed; bone morphology at birth resembles E17.5 in wild-type

cellular
• interdigital apoptosis is reduced at E15.5




Genotype
MGI:3768541
cn55
Allelic
Composition
Bmp4tm1Jfm/Bmp4tm1Jfm
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
involves: 129S4/SvJaeSor * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp4tm1Jfm mutation (1 available); any Bmp4 mutation (17 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Mice deficient singly or in various combinations of Bmp2, Bmp4 and Bmp7 display limb defects

limbs/digits/tail
• mice exhibit variable penetrance of preaxial and postaxial polydactyly, however exhibit normal digit patterns




Genotype
MGI:3700040
cn56
Allelic
Composition
Bmp2tm1Cjt/Bmp2+
Bmp4tm1Jfm/Bmp4tm1Jfm
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
involves: 129S4/SvJaeSor * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp2tm1Cjt mutation (0 available); any Bmp2 mutation (4 available)
Bmp4tm1Jfm mutation (1 available); any Bmp4 mutation (17 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Mice deficient singly or in various combinations of Bmp2, Bmp4 and Bmp7 display limb defects

limbs/digits/tail
• mice exhibit variable penetrance pre- and postaxial syndactyly




Genotype
MGI:3700046
cn57
Allelic
Composition
Bmp2tm1Cjt/Bmp2+
Bmp4tm1Jfm/Bmp4+
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
involves: 129S4/SvJaeSor * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp2tm1Cjt mutation (0 available); any Bmp2 mutation (4 available)
Bmp4tm1Jfm mutation (1 available); any Bmp4 mutation (17 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype
• mutants show no defects in limb patterning and skeletogenesis




Genotype
MGI:3700041
cn58
Allelic
Composition
Bmp2tm1Cjt/Bmp2tm1Cjt
Bmp4tm1Jfm/Bmp4+
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
involves: 129S4/SvJaeSor * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp2tm1Cjt mutation (0 available); any Bmp2 mutation (4 available)
Bmp4tm1Jfm mutation (1 available); any Bmp4 mutation (17 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Mice deficient singly or in various combinations of Bmp2, Bmp4 and Bmp7 display limb defects

skeleton
• mice have more severe skeletal defects than Bmp2-heterozygous, Bmp4-homozygous mice, including significantly thinner skeletal elements
• animals do not have abnormal digit patterns




Genotype
MGI:5810679
cn59
Allelic
Composition
Gli3tm3.1Blnw/Gli3tm3.1Blnw
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6 * C57BL/6J * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gli3tm3.1Blnw mutation (0 available); any Gli3 mutation (10 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• all but two mice died before or immediately after birth

limbs/digits/tail
• mice display limb phenotypes that resemble those observed in Shhtm1Chg homozygotes
• at E16.5, the forelimb autopod lacks all digits and is presented by a single cartilage element
• at E16.5, most hindlimb autopods have 3 identifiable first digits
• forelimb autopods lack all digits
• surviving newborns exhibit a single digit in the forelimbs and 1 or 3 digits in the hindlimbs
• at E16.5, most hindlimbs appear to have 3 digits, or occasionally only one
• forelimbs are consistently very short with no obvious digit structure, regardless of the age of embryos and newborns
• at E16.5, all forelimb bone elements are shorter than those observed in Shhtm1Chg homozygotes
• at E16.5, the humerus is significantly shorter than that in wild-type controls
• at E16.5, the forelimb zeugopod is presented by a single bone element and is significantly shorter than that in wild-type controls
• at E16.5
• at E16.5
• at E16.5, hindlimbs are short, though not as much as the forelimbs
• at E16.5, all hindlimb bone structures are much or slightly shorter than those observed in wild-type controls or Shhtm1Chg homozygotes, respectively
• hindlimb phenotypes are more variable than forelimb phenotypes, most likely due to low levels of cre in the hindlimbs
• at E16.5, the fibula is very short
• at E16.5, the tibia is very short
• surviving newborns exhibit extremely short limbs

skeleton
• at E16.5, the humerus is significantly shorter than that in wild-type controls
• at E16.5
• at E16.5
• at E16.5, the fibula is very short
• at E16.5, the tibia is very short
• at E16.5, the scapula is significantly shorter than that in wild-type controls
• at E16.5, forelimb autopods lack ossification




Genotype
MGI:5810678
cn60
Allelic
Composition
Gli3tm3.1Blnw/Gli3+
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6 * C57BL/6J * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gli3tm3.1Blnw mutation (0 available); any Gli3 mutation (10 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
• E16.5 forelimb autopods are much smaller than those in control mice
• ~50% of mice display hindlimb autopods with fused digits, while the rest have normal hindlimb autopods
• forelimb digits are shorter
• at E16.5, forelimb digit number varies from 3 to 5, with some digits fused (oligosyndactyly)
• at E16.5, two of 5 mice show normal hindlimb autopods, while the rest show 3 to 5 digits, some of which are fused or partial
• forelimb digits are fused and shorter, making it difficult to determine digit number
• ~50% of mice display hindlimb autopods with fused digits
• adult and E16.5 forelimbs are markedly shorter with consistently smaller autopods than those in control mice
• at E16.5, the humerus is slightly shorter than that in wild-type controls
• at E16.5, the forelimb zeugopod elements, radius and ulna, are bent and much shorter than those in control mice
• at E16.5
• at E16.5, the radius is much shorter than that in wild-type controls
• at E16.5
• at E16.5, the ulna is much shorter than that in wild-type controls
• ~50% of adult and E16.5 mice display hindlimb autopods with fused digits
• however, hindlimb length is normal
• at E16.5, the femur is slightly shorter than that in wild-type controls
• however, patterning appears normal
• at E16.5, the fibula is slightly shorter than that in wild-type controls
• however, patterning appears normal
• at E16.5, the tibia is slightly shorter than that in wild-type controls
• however, patterning appears normal

skeleton
• at E16.5, the humerus is slightly shorter than that in wild-type controls
• at E16.5
• at E16.5, the radius is much shorter than that in wild-type controls
• at E16.5
• at E16.5, the ulna is much shorter than that in wild-type controls
• at E16.5, the femur is slightly shorter than that in wild-type controls
• however, patterning appears normal
• at E16.5, the fibula is slightly shorter than that in wild-type controls
• however, patterning appears normal
• at E16.5, the tibia is slightly shorter than that in wild-type controls
• however, patterning appears normal
• at E16.5, the distal scapula is slightly shorter than that in wild-type controls
• at E16.5, forelimb autopods often lack ossification




Genotype
MGI:4441201
cn61
Allelic
Composition
Gt(ROSA)26Sortm1(CAG-Lmx1b,ALPP)Rjo/Gt(ROSA)26Sor+
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6 * C57BL/6J * SJL/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sortm1(CAG-Lmx1b,ALPP)Rjo mutation (0 available); any Gt(ROSA)26Sor mutation (556 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• mice exhibit loss of muscle tissue in the ventral limb unlike wild-type mice
• the ventral flexure at the ankle is absent
• tendon elements exhibit a partial ventral to dorsal conversion with partial conversion of ventral tendon to a dorsal morphology unlike in wild-type mice
• the lateral flexor digitorium profundus tendon is absent unlike in wild-type mice
• the flexor digitorium sublimus is flattened unlike in wild-type mice

muscle
• mice exhibit loss of muscle tissue in the ventral limb unlike wild-type mice
• tendon elements exhibit a partial ventral to dorsal conversion with partial conversion of ventral tendon to a dorsal morphology unlike in wild-type mice
• the lateral flexor digitorium profundus tendon is absent unlike in wild-type mice
• the flexor digitorium sublimus is flattened unlike in wild-type mice

limbs/digits/tail
• mice exhibit hair on the ventral skin of the paw unlike in wild-type mice
• the ventral flexure at the ankle is absent




Genotype
MGI:5443990
cn62
Allelic
Composition
Rspo2ftls/Rspo2ftls
Rspo3tm1.1Jcob/Rspo3tm1.2Jcob
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6 * CD-1 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rspo2ftls mutation (0 available); any Rspo2 mutation (1 available)
Rspo3tm1.1Jcob mutation (1 available); any Rspo3 mutation (1 available)
Rspo3tm1.2Jcob mutation (0 available); any Rspo3 mutation (1 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Rspo2ftls/Rspo2ftls Rspo3tm1.1Jcob/Rspo3tm1.2Jcob Tg(Prrx1-cre)1Cjt/0 double mutants have more severe limb defects than single mutants

mortality/aging
• mice die at birth as do Rspo2ftls homozygotes

limbs/digits/tail
• in the forelimb
• in digits of the forelimbs in 5 of 6 mice; all mice lack 1 digit
• three shortened middle digits
• more subtle than in hindlimbs
• at birth, mice lack most of their hindlimbs
• hindlimb abnormalities are more severe more proximally than in Rspo2ftls homozygotes
• severely shortened and bent in two mice
• severely shortened in two mice
• in one mouse

respiratory system
• as in Rspo2ftls homozygotes

behavior/neurological
• as in Rspo2ftls homozygotes

skeleton
• severely shortened and bent in two mice
• severely shortened in two mice
• in one mouse




Genotype
MGI:5443989
cn63
Allelic
Composition
Rspo3tm1.1Jcob/Rspo3tm1.2Jcob
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6 * CD-1 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rspo3tm1.1Jcob mutation (1 available); any Rspo3 mutation (1 available)
Rspo3tm1.2Jcob mutation (0 available); any Rspo3 mutation (1 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Rspo2ftls/Rspo2ftls Rspo3tm1.1Jcob/Rspo3tm1.2Jcob Tg(Prrx1-cre)1Cjt/0 double mutants have more severe limb defects than single mutants

limbs/digits/tail
• slight in newborns
• however, adult mice exhibit normal limb length




Genotype
MGI:5762856
cn64
Allelic
Composition
Riox1tm1Qch/Riox1tm1Qch
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6J * C57BL/6NCrl * SJL/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Riox1tm1Qch mutation (0 available); any Riox1 mutation (10 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• thicker than in control mice
• at E14.5 and E15.5 in the femur
• increased Sp7+ preosteoblasts and osteoblasts in endochondral and membranous bones
• at 2 months of age
• at 2 months of age
• at 2 months of age
• larger primary ossification centers at E14.5 and E15.5 in the femur compared with wild-type mice
• increased ossification in the limbs
• increased ossification in the skull

growth/size/body
• at 2 months of age
• in newborns and at 2 months of age

craniofacial
• thicker than in control mice

cellular
• increased Sp7+ preosteoblasts and osteoblasts in endochondral and membranous bones

hematopoietic system

immune system




Genotype
MGI:5642218
cn65
Allelic
Composition
Bmp7tm1.1Dgra/Bmp7tm1.1Dgra
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6J * C57BL/6NTac * SJL/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp7tm1.1Dgra mutation (0 available); any Bmp7 mutation (21 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• slight increase in accumulation of F4/80+ macrophages in the synovial membrane at 4 weeks of age which increases significantly with age, indicating sinovits
• mice show articular cartilage degeneration after 8 weeks of age

skeleton
• slight increase in accumulation of F4/80+ macrophages in the synovial membrane at 4 weeks of age which increases significantly with age, indicating sinovits
• mice show articular cartilage degeneration after 8 weeks of age
• loss of proteoglycan and aggrecan content in articular cartilage at 8 weeks of age which is severe at 24 weeks
• extensive synovial hyperplasia at 8 and 24 weeks of age

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
osteoarthritis DOID:8398 J:221175




Genotype
MGI:4822057
cn66
Allelic
Composition
Ccn2tm1.1Vlcg/Ccn2tm1.1Vlcg
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6J * C57BL/6NTac * SJL/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ccn2tm1.1Vlcg mutation (0 available); any Ccn2 mutation (15 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• at 1 month of age osteopenia is seen in males but not females
• at 1 month of age the number of trabeculae is reduced in males but not females




Genotype
MGI:5426940
cn67
Allelic
Composition
Ctnnb1tm1Yy/Ctnnb1tm1Yy
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6J * SJL/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ctnnb1tm1Yy mutation (0 available); any Ctnnb1 mutation (24 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
• authors state that mice exhibit the same defects as in Wlstm1Xzg/Wlstm1Xzg Tg(Msx2-cre)5Rem mice

integument
• loss of hair follicles in the dorsal dermis of the limb

muscle
• in the forelimbs at E17.5

skeleton
• in the forelimbs at E17.5
• in the forelimbs at E17.5

pigmentation
• loss of melanogenesis in the dorsal dermis of the limb




Genotype
MGI:6458883
cn68
Allelic
Composition
Wnt4tm1.1Bhr/Wnt4tm1.1Bhr
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(Prrx1-cre)1Cjt mutation (2 available)
Wnt4tm1.1Bhr mutation (1 available); any Wnt4 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• at 16 weeks of age, females, but not males, show a significant reduction in femoral areal bone mineral density (aBMD) relative to wild-type controls
• however, total body bone mineral density is normal in both sexes
• at 16 weeks of age, females, but not males, show a significant reduction in femoral areal bone mineral density (aBMD) relative to wild-type controls
• at 16 weeks of age, females, but not males, show a significant reduction in femoral cortical area at the femoral mid-diaphysis relative to wild-type controls
• at 16 weeks of age, both females and males show a significant reduction in trabecular number at the femoral metaphysis relative to wild-type controls
• at 16 weeks of age, females show a significant reduction in trabecular bone mass in the femur relative to wild-type controls




Genotype
MGI:4441203
cn69
Allelic
Composition
Lmx1btm1Rjo/Lmx1btm1Zfc
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6J * SJL/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lmx1btm1Rjo mutation (0 available); any Lmx1b mutation (11 available)
Lmx1btm1Zfc mutation (0 available); any Lmx1b mutation (11 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• mice exhibit dorsal-to-ventral transformation of skeletal tissues compared with wild-type mice
• mice exhibit partial duplication of sesamoid bones at the metacarpophalangeal joint compared with wild-type mice
• mice exhibit dorsal sesamoid bones and dorsal cartilagenious protrusion of the metacarpal unlike in wild-type mice
• mice exhibit reduced tips of the metacarpals compared with wild-type mice
• the scaphoid, falciform, and pisiform are duplicated in a dorsal position unlike in wild-type mice
• mice exhibit dorsal-to-ventral transformation of tendon tissues compared with wild-type mice
• the dorsal tendon is round unlike in wild-type mice
• the dorsal flexure at the ankle is absent

muscle
• mice exhibit dorsal-to-ventral transformation of tendon tissues compared with wild-type mice
• the dorsal tendon is round unlike in wild-type mice

limbs/digits/tail
• mice exhibit less hair on the dorsal skin of the paw that resembles a footpad unlike in wild-type mice
• mice exhibit partial duplication of sesamoid bones at the metacarpophalangeal joint compared with wild-type mice
• mice exhibit dorsal sesamoid bones and dorsal cartilagenious protrusion of the metacarpal unlike in wild-type mice
• mice exhibit reduced tips of the metacarpals compared with wild-type mice
• the scaphoid, falciform, and pisiform are duplicated in a dorsal position unlike in wild-type mice




Genotype
MGI:2451172
cn70
Allelic
Composition
Sox9tm2Crm/Sox9+
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6J * SJL/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sox9tm2Crm mutation (1 available); any Sox9 mutation (15 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton