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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Nkx2-5tm1(cre)Rjs
targeted mutation 1, Robert J Schwartz
MGI:2654594
Summary 42 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cn1
Smarcd3tm1.1Bbr/Smarcd3tm1.1Bbr
Nkx2-5tm1(cre)Rjs/Nkx2-5+
either: (involves: 129 * C57BL/6 * SJL) or (involves: 129 * C57BL/6 * ICR * SJL) MGI:6368032
cn2
Gt(ROSA)26Sortm1(DTA)Jpmb/Gt(ROSA)26Sor+
Nkx2-5tm1(cre)Rjs/Nkx2-5+
either: (involves: 129S/SvEv * 129S7/SvEvBrd * C57BL/6) or (involves: 129S/SvEv * 129S7/SvEvBrd * CD-1) MGI:3611572
cn3
Bnip3ltm1Gwd/Bnip3ltm1Gwd
Nkx2-5tm1(cre)Rjs/Nkx2-5+
involves: 129 * 129S7/SvEvBrd MGI:4430398
cn4
Fgf8tm1.3Mrt/Fgf8tm2Mrt
Nkx2-5tm1(cre)Rjs/Nkx2-5+
involves: 129 * 129S7/SvEvBrd MGI:3818073
cn5
Dicer1tm1Bdh/Dicer1tm1Bdh
Nkx2-5tm1(cre)Rjs/Nkx2-5+
involves: 129 * 129S7/SvEvBrd * C57BL/6 MGI:5575766
cn6
Atoh8tm1.1Mlkn/Atoh8tm1.1Mlkn
Gata4tm1.1Sad/Gata4+
Nkx2-5tm1(cre)Rjs/Nkx2-5+
involves: 129 * C57BL/6 MGI:5532942
cn7
Foxp1tm2.1Eem/Foxp1tm2.1Eem
Nkx2-5tm1(cre)Rjs/Nkx2-5+
involves: 129 * C57BL/6 * SJL MGI:4829788
cn8
Fgf8tm1.3Mrt/Fgf8tm1.4Mrt
Gt(ROSA)26Sortm1Sor/Gt(ROSA)26Sortm1Sor
Nkx2-5tm1(cre)Rjs/Nkx2-5+
involves: 129P2/OlaHsd * 129S4/SvJaeSor * 129S7/SvEvBrd MGI:3818077
cn9
Fgf8tm1.3Mrt/Fgf8tm1.4Mrt
Nkx2-5tm1(cre)Rjs/Nkx2-5+
involves: 129P2/OlaHsd * 129S7/SvEvBrd MGI:3818072
cn10
Hic2Gt(E225A08)1.1Wrst/Hic2Gt(E225A08)1.1Wrst
Nkx2-5tm1(cre)Rjs/Nkx2-5+
involves: 129P2/OlaHsd * 129S7/SvEvBrd MGI:5707467
cn11
Casz1tm1.1Flc/Casz1+
Nkx2-5tm1(cre)Rjs/Nkx2-5+
involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6 * C57BL/6J * SJL MGI:5811817
cn12
Casz1tm1.1Flc/Casz1tm1.1Flc
Nkx2-5tm1(cre)Rjs/Nkx2-5+
involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6 * C57BL/6J * SJL MGI:5811822
cn13
Daam1Gt(RRT390)Byg/Daam1Gt(RRT390)Byg
Nkx2-5tm1(cre)Rjs/Nkx2-5+
involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6J MGI:4880768
cn14
Daam1tm1.1Tpy/Daam1tm1.1Tpy
Gt(ROSA)26Sortm1Sor/Gt(ROSA)26Sor+
Nkx2-5tm1(cre)Rjs/Nkx2-5+
involves: 129S1/Sv * 129S4/SvJaeSor * 129S7/SvEvBrd MGI:6150944
cn15
Zfpm2tm1Sho/Zfpm2tm2Sho
Nkx2-5tm1(cre)Rjs/Nkx2-5+
involves: 129S1/Sv * 129S7/SvEvBrd MGI:3851399
cn16
Daam1tm1.1Tpy/Daam1tm1.1Tpy
Nkx2-5tm1(cre)Rjs/Nkx2-5+
Wnt5atm1Amc/Wnt5a+
involves: 129S1/Sv * 129S7/SvEvBrd MGI:6151066
cn17
Daam1tm1.1Tpy/Daam1tm1.1Tpy
Nkx2-5tm1(cre)Rjs/Nkx2-5+
involves: 129S1/Sv * 129S7/SvEvBrd MGI:6150918
cn18
Daam1tm1.1Tpy/Daam1tm1.1Tpy
Daam2tm1Tpy/Daam2tm1Tpy
Nkx2-5tm1(cre)Rjs/Nkx2-5+
involves: 129S1/Sv * 129S7/SvEvBrd MGI:6150919
cn19
Daam1tm1.1Tpy/Daam1tm1.1Tpy
Nkx2-5tm1(cre)Rjs/Nkx2-5+
Wnt5atm1Amc/Wnt5atm1Amc
involves: 129S1/Sv * 129S7/SvEvBrd MGI:6150926
cn20
Prox1tm2Gco/Prox1tm2Gco
Nkx2-5tm1(cre)Rjs/Nkx2-5+
involves: 129S1/Sv * 129S7/SvEvBrd MGI:5907122
cn21
Shhtm1Chg/Shhtm2Amc
Nkx2-5tm1(cre)Rjs/Nkx2-5+
involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ MGI:4843919
cn22
Hspb7tm1.1Chen/Hspb7tm1.1Chen
Nkx2-5tm1(cre)Rjs/Nkx2-5+
involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6 MGI:6159009
cn23
Gata4tm1.1Sad/Gata4tm1.1Sad
Nkx2-5tm1(cre)Rjs/Nkx2-5+
involves: 129S1/Sv * 129X1/SvJ * CD-1 MGI:3783262
cn24
Bmp2tm1Jfm/Bmp2tm1Jfm
Nkx2-5tm1(cre)Rjs/Nkx2-5+
involves: 129S4/SvJaeSor MGI:3620974
cn25
Bmp4tm1Jfm/Bmp4tm1.1Jfm
Nkx2-5tm1(cre)Rjs/Nkx2-5+
involves: 129S4/SvJaeSor * 129S7/SvEvBrd MGI:3043044
cn26
Grk2tm1Gwd/Grk2tm1Gwd
Nkx2-5tm1(cre)Rjs/Nkx2-5+
involves: 129S4/SvJaeSor * 129S7/SvEvBrd * C57BL/6 MGI:3763210
cn27
Nkx2-5tm1(cre)Rjs/Nkx2-5+
Zic3tm2.1Jwb/Y
involves: 129S4/SvJaeSor * 129S7/SvSvBrd * C57BL/6J MGI:5470169
cn28
Gata4tm1Sho/Gata4tm1.1Wtp
Nkx2-5tm1(cre)Rjs/Nkx2-5+
involves: 129S6/SvEvTac * 129S7/SvEvBrd MGI:3851408
cn29
Gata4tm1Sho/Gata4+
Nkx2-5tm1(cre)Rjs/Nkx2-5+
involves: 129S6/SvEvTac * 129S7/SvEvBrd MGI:3851410
cn30
Hand1tm5Abfi/Hand1+
Nkx2-5tm1(cre)Rjs/Nkx2-5+
involves: 129S7/SvEvBrd MGI:6766587
cn31
Gata4tm1.1Wtp/Gata4tm1.1Wtp
Nkx2-5tm1(cre)Rjs/Nkx2-5+
involves: 129S7/SvEvBrd MGI:3639276
cn32
Zic3tm1.1Smwa/Y
Nkx2-5tm1(cre)Rjs/Nkx2-5+
involves: 129S7/SvEvBrd MGI:5476840
cn33
Fkbp1atm1.1Shou/Fkbp1atm1Zuk
Nkx2-5tm1(cre)Rjs/Nkx2-5+
involves: 129S7/SvEvBrd MGI:5490242
cn34
Ehmt1tm2Yshk/Ehmt1tm2Yshk
Nkx2-5tm1(cre)Rjs/Nkx2-5+
involves: 129S7/SvEvBrd MGI:5543776
cn35
Smotm2Amc/Smotm2.1Amc
Nkx2-5tm1(cre)Rjs/Nkx2-5+
involves: 129S7/SvEvBrd * 129X1/SvJ MGI:4843927
cn36
Gt(ROSA)26Sortm1.1(CAG-Mirc20)Eem/Gt(ROSA)26Sor+
Nkx2-5tm1(cre)Rjs/Nkx2-5+
involves: 129S7/SvEvBrd * C57BL/6 MGI:5792841
cn37
Frs2tm1Fwan/Frs2tm1Fwan
Nkx2-5tm1(cre)Rjs/?
involves: 129S7/SvEvBrd * C57BL/6 MGI:3768916
cn38
Nkx2-5tm1(cre)Rjs/Nkx2-5+
Tbx1tm1Bld/Tbx1tm3Bld
involves: 129S7/SvEvBrd * C57BL/6 MGI:3046805
cn39
Adam17tm1.1Wesh/Adam17tm1.1Wesh
Nkx2-5tm1(cre)Rjs/Nkx2-5+
involves: 129S7/SvEvBrd * C57BL/6 * FVB/N MGI:5571466
cn40
Akap6tm1.1Mskf/Akap6tm1.1Mskf
Nkx2-5tm1(cre)Rjs/0
involves: 129S7/SvEvBrd * C57BL/6 * SJL MGI:5603566
cn41
Yap1tm1.1Eno/Yap1tm1.1Eno
Nkx2-5tm1(cre)Rjs/Nkx2-5+
involves: 129S/SvEv MGI:5446510
cx42
Nkx2-5tm1(cre)Rjs/Nkx2-5+
Nsd2tm1Ykan/Nsd2+
involves: 129S2/SvPas * 129S7/SvEvBrd * C57BL/6 MGI:3851519


Genotype
MGI:6368032
cn1
Allelic
Composition
Smarcd3tm1.1Bbr/Smarcd3tm1.1Bbr
Nkx2-5tm1(cre)Rjs/Nkx2-5+
Genetic
Background
either: (involves: 129 * C57BL/6 * SJL) or (involves: 129 * C57BL/6 * ICR * SJL)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nkx2-5tm1(cre)Rjs mutation (1 available); any Nkx2-5 mutation (17 available)
Smarcd3tm1.1Bbr mutation (0 available); any Smarcd3 mutation (14 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

cardiovascular system
• reduced trabeculation at E14.5
• thin myocardium at E14.5
• ventricular septum is thinner and is poorly organized by E14.5
• ventricle free walls are thinner by E14.5

muscle
• reduced trabeculation at E14.5
• thin myocardium at E14.5




Genotype
MGI:3611572
cn2
Allelic
Composition
Gt(ROSA)26Sortm1(DTA)Jpmb/Gt(ROSA)26Sor+
Nkx2-5tm1(cre)Rjs/Nkx2-5+
Genetic
Background
either: (involves: 129S/SvEv * 129S7/SvEvBrd * C57BL/6) or (involves: 129S/SvEv * 129S7/SvEvBrd * CD-1)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sortm1(DTA)Jpmb mutation (2 available); any Gt(ROSA)26Sor mutation (745 available)
Nkx2-5tm1(cre)Rjs mutation (1 available); any Nkx2-5 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

cardiovascular system
• at the 12-14 somite stage no heart is present

embryo
• at E9.5 embryos are very small and some are partially resorbed

growth/size/body
• at E9.5 embryos are very small and some are partially resorbed




Genotype
MGI:4430398
cn3
Allelic
Composition
Bnip3ltm1Gwd/Bnip3ltm1Gwd
Nkx2-5tm1(cre)Rjs/Nkx2-5+
Genetic
Background
involves: 129 * 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bnip3ltm1Gwd mutation (0 available); any Bnip3l mutation (19 available)
Nkx2-5tm1(cre)Rjs mutation (1 available); any Nkx2-5 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• late after pressure overload, mice exhibit reduced left ventricular end-diastolic diameter, left ventricular dilation, and ventricular remodeling compared with similarly treated wild-type mice
• 9 weeks after pressure overload compared with similarly treated wild-type mice
• late after pressure overload compared with similarly treated wild-type mice
• 9 weeks after pressure overload compared with similarly treated wild-type mice
• late after pressure overload, mice exhibit increased myocardial contractile function and velocity of circumferential shortening and reduced left ventricular end-diastolic diameter, left ventricular dilation, ventricular remodeling, myocardial fibrosis, and cardiomyocyte apoptosis compared with similarly treated wild-type mice
• however, hypertrophic response to pressure overload is normal

homeostasis/metabolism
• late after pressure overload, mice exhibit increased myocardial contractile function and velocity of circumferential shortening and reduced left ventricular end-diastolic diameter, left ventricular dilation, ventricular remodeling, myocardial fibrosis, and cardiomyocyte apoptosis compared with similarly treated wild-type mice
• however, hypertrophic response to pressure overload is normal

muscle
• late after pressure overload compared with similarly treated wild-type mice
• 9 weeks after pressure overload compared with similarly treated wild-type mice

cellular
• 9 weeks after pressure overload compared with similarly treated wild-type mice




Genotype
MGI:3818073
cn4
Allelic
Composition
Fgf8tm1.3Mrt/Fgf8tm2Mrt
Nkx2-5tm1(cre)Rjs/Nkx2-5+
Genetic
Background
involves: 129 * 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgf8tm1.3Mrt mutation (1 available); any Fgf8 mutation (12 available)
Fgf8tm2Mrt mutation (1 available); any Fgf8 mutation (12 available)
Nkx2-5tm1(cre)Rjs mutation (1 available); any Nkx2-5 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
N
• phenotype is stated to be identical to that of Fgf8tm1.3Mrt/ Fgf8tm1.4Mrt; Nkx2-5tm1(cre)Rjs/ Nkx2-5+ mutants; however no data are presented

embryo
• at E9.5 cell proliferation in pharyngeal endoderm is reduced with cell mitotic indices decreased by 60% relative to controls
• excessive neural crest cell death is observed in pharyngeal arch mesenchyme at E9.5
• thinning of splanchnic mesoderm (SM) layers
• at E9.5 cell proliferation in SM is reduced with cell mitotic indices decreased by 50% relative to controls
• excessive cell death is detected from E8.5-9.5 in SM immediately distal to emerging outflow tract and in endoderm adjacent to the SM
• excessive neural crest cell death is observed in pharyngeal arch mesenchyme at E9.5, as well as in presumptive cardiac neural crest cells in close proximity to outflow tract

cardiovascular system
• phenotype is stated to be identical to that of Fgf8tm1.3Mrt/ Fgf8tm1.4Mrt; Nkx2-5tm1(cre)Rjs/ Nkx2-5+ mutants; however no data are presented
• anterior heart field (AHF) cells are mildly reduced compared to controls, resulting in thinning of splanchnic mesoderm (SM) layers
• at E9.5 cell proliferation in SM is reduced with cell mitotic indices decreased by 50% relative to controls; excessive cell death is detected from E8.5-9.5 in SM immediately distal to emerging outflow tract and in endoderm adjacent to the SM, with excessive cell death expanding into ventral pharyngeal endoderm by E9.5 but not in SM at this stage

craniofacial
• at E9.5 cell proliferation in pharyngeal endoderm is reduced with cell mitotic indices decreased by 60% relative to controls
• excessive neural crest cell death is observed in pharyngeal arch mesenchyme at E9.5

cellular
• indices are reduced by 50% and 60% in splanchnic mesoderm and pharyngeal endoderm at E9.5

nervous system
• excessive neural crest cell death is observed in pharyngeal arch mesenchyme at E9.5, as well as in presumptive cardiac neural crest cells in close proximity to outflow tract

growth/size/body
• excessive neural crest cell death is observed in pharyngeal arch mesenchyme at E9.5




Genotype
MGI:5575766
cn5
Allelic
Composition
Dicer1tm1Bdh/Dicer1tm1Bdh
Nkx2-5tm1(cre)Rjs/Nkx2-5+
Genetic
Background
involves: 129 * 129S7/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dicer1tm1Bdh mutation (4 available); any Dicer1 mutation (70 available)
Nkx2-5tm1(cre)Rjs mutation (1 available); any Nkx2-5 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
muscle

mortality/aging

cardiovascular system
• by E12.5
• embryos die at E12.5 from cardiac failure

homeostasis/metabolism
• by E12.5




Genotype
MGI:5532942
cn6
Allelic
Composition
Atoh8tm1.1Mlkn/Atoh8tm1.1Mlkn
Gata4tm1.1Sad/Gata4+
Nkx2-5tm1(cre)Rjs/Nkx2-5+
Genetic
Background
involves: 129 * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atoh8tm1.1Mlkn mutation (0 available); any Atoh8 mutation (5 available)
Gata4tm1.1Sad mutation (1 available); any Gata4 mutation (25 available)
Nkx2-5tm1(cre)Rjs mutation (1 available); any Nkx2-5 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
N
• viable and present at the expected Mendelian ratio at P1




Genotype
MGI:4829788
cn7
Allelic
Composition
Foxp1tm2.1Eem/Foxp1tm2.1Eem
Nkx2-5tm1(cre)Rjs/Nkx2-5+
Genetic
Background
involves: 129 * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Foxp1tm2.1Eem mutation (0 available); any Foxp1 mutation (56 available)
Nkx2-5tm1(cre)Rjs mutation (1 available); any Nkx2-5 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

cardiovascular system
• expression analysis in cardiomyocytes indicates disruption of sarcomere structure and an inhibition of cardiomyocyte maturation
• at E14.5 ventricular septal defects are present; however, by E16.5 most mice do not have septal defects suggesting a delay in septal development
• by E16.5 both the right and left ventricle walls are thicker compared to controls
• increased proliferation that is most prominent in the trabecular layer at E14.5 and E16.5

muscle
• increased proliferation that is most prominent in the trabecular layer at E14.5 and E16.5
• expression analysis in cardiomyocytes indicates disruption of sarcomere structure

cellular
• increased proliferation that is most prominent in the trabecular layer at E14.5 and E16.5




Genotype
MGI:3818077
cn8
Allelic
Composition
Fgf8tm1.3Mrt/Fgf8tm1.4Mrt
Gt(ROSA)26Sortm1Sor/Gt(ROSA)26Sortm1Sor
Nkx2-5tm1(cre)Rjs/Nkx2-5+
Genetic
Background
involves: 129P2/OlaHsd * 129S4/SvJaeSor * 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgf8tm1.3Mrt mutation (1 available); any Fgf8 mutation (12 available)
Fgf8tm1.4Mrt mutation (0 available); any Fgf8 mutation (12 available)
Gt(ROSA)26Sortm1Sor mutation (8 available); any Gt(ROSA)26Sor mutation (745 available)
Nkx2-5tm1(cre)Rjs mutation (1 available); any Nkx2-5 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• anterior heart field (AHF) cells are lost compared to controls; numbers of B-gal +ve cells in splanchnic mesoderm (SM) and pharyngeal endoderm are significantly reduced, causing thinning of these cell layers
• number of positive cells in pharyngeal arch core mesoderm (CM) is significantly decreased also

embryo
• thinning of splanchnic mesoderm due to significantly reduced numbers of B-gal +ve cells




Genotype
MGI:3818072
cn9
Allelic
Composition
Fgf8tm1.3Mrt/Fgf8tm1.4Mrt
Nkx2-5tm1(cre)Rjs/Nkx2-5+
Genetic
Background
involves: 129P2/OlaHsd * 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgf8tm1.3Mrt mutation (1 available); any Fgf8 mutation (12 available)
Fgf8tm1.4Mrt mutation (0 available); any Fgf8 mutation (12 available)
Nkx2-5tm1(cre)Rjs mutation (1 available); any Nkx2-5 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mutant embryos are present at expected ratio up to E9.5, but a marked reduction is observed at later times with no surviving mutants by E10.5

embryo
• arches are hypoplastic at E9.5

cardiovascular system
• presumptive outflow tract (OT) is almost completely absent at E9.5; only a small segment of myocardium joins left ventricle to aortic sac
• at E9.5, heart tube is severely truncated
• both atria are slightly dilated at E9.5
• slightly at E9.5
• almost completely absent at E9.5

craniofacial
• arches are hypoplastic at E9.5




Genotype
MGI:5707467
cn10
Allelic
Composition
Hic2Gt(E225A08)1.1Wrst/Hic2Gt(E225A08)1.1Wrst
Nkx2-5tm1(cre)Rjs/Nkx2-5+
Genetic
Background
involves: 129P2/OlaHsd * 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hic2Gt(E225A08)1.1Wrst mutation (0 available); any Hic2 mutation (255 available)
Nkx2-5tm1(cre)Rjs mutation (1 available); any Nkx2-5 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
muscle
• in 40% of mice

mortality/aging
N
• no embryonic lethality to E15.5

embryo
• 19% with mild developmental delay and hemorrhage

cardiovascular system
• in 40% of mice
• in 80% of mice
• 80% with ventricular septal defects
• in mice showing developmental delay

growth/size/body
• 19% with mild developmental delay and hemorrhage




Genotype
MGI:5811817
cn11
Allelic
Composition
Casz1tm1.1Flc/Casz1+
Nkx2-5tm1(cre)Rjs/Nkx2-5+
Genetic
Background
involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6 * C57BL/6J * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Casz1tm1.1Flc mutation (1 available); any Casz1 mutation (322 available)
Nkx2-5tm1(cre)Rjs mutation (1 available); any Nkx2-5 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype
N
• mice are viable, fertile and show no obvious phenotypic abnormalities




Genotype
MGI:5811822
cn12
Allelic
Composition
Casz1tm1.1Flc/Casz1tm1.1Flc
Nkx2-5tm1(cre)Rjs/Nkx2-5+
Genetic
Background
involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6 * C57BL/6J * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Casz1tm1.1Flc mutation (1 available); any Casz1 mutation (322 available)
Nkx2-5tm1(cre)Rjs mutation (1 available); any Nkx2-5 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• no viable embryos are identified after E14.5
• however, embryos appear grossly normal at E12.5

homeostasis/metabolism
• severe edema at E13.5

cardiovascular system
• severe thinning of the myocardium by E12.5
• abnormal heart development between E10.5 and E12.5
• at E12.5, the number of tropomyosin (TMY)-positive cardiomyocytes is significantly reduced in the ventricles
• however, no increase in programmed cell death is observed and actin filaments are intact
• heart fails to form an apex for either the left or the right ventricle
• ballooning of the right atria by E13.5, indicating blood pooling in the right ventricle
• enlarged right atrium at E12.5; more pronounced at E13.5
• misshapen heart at E13.5
• severe cardiac hypoplasia by E13.5
• at E12.5, cardiac hypoplasia is specific to cardiomyocytes and does not affect the epicardium or endothelial cells
• narrower ventricular lumens by E13.5
• decreased trabeculation at E12.5
• underdeveloped interventricular septum at E12.5
• membranous ventricular septal defects by E13.5
• malformed left ventricle at E12.5; more pronounced at E13.5
• thinning of the ventricular walls starting at E12.5
• inflated pericardial sacs at E13.5
• severe blood hemorrhaging at E13.5
• decreased blood flow throughout the vasculature by E13.5
• at E12.5, the G1-to-S phase progression of cardiomyocytes is impaired, as shown by a prolonged or arrested G1 phase, a reduction in DNA synthesis, an increase in phospho-RB, and a decrease in the cardiac mitotic index
• cardiomyocyte proliferation is significantly reduced in E12.5 ventricles, as shown by EdU incorporation

cellular
• cardiomyocyte proliferation is significantly reduced in E12.5 ventricles, as shown by EdU incorporation
• at E12.5, cell cycle profiling of cardiac nuclei revealed a significant increase of cells in G1 phase and a simultaneous decrease of cells in S phase, with no alteration in the % of cells in G2 phase
• cardiomyocyte mitotic index is significantly reduced in E12.5 ventricles, as shown by phospho-histone H3 staining

muscle
• decreased trabeculation at E12.5
• severe thinning of the myocardium by E12.5
• cardiomyocyte proliferation is significantly reduced in E12.5 ventricles, as shown by EdU incorporation




Genotype
MGI:4880768
cn13
Allelic
Composition
Daam1Gt(RRT390)Byg/Daam1Gt(RRT390)Byg
Nkx2-5tm1(cre)Rjs/Nkx2-5+
Genetic
Background
involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Daam1Gt(RRT390)Byg mutation (1 available); any Daam1 mutation (61 available)
Nkx2-5tm1(cre)Rjs mutation (1 available); any Nkx2-5 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
N
• cre mediated reversion rescues the lethality seen in homozygous mutants lacking cre expression in the heart

cardiovascular system
N
• cre mediated reversion rescues cardiac defects seen in homozygous mutants lacking cre expression in the heart

embryo
• most embryos are smaller than wild-type littermates

growth/size/body
• most embryos are smaller than wild-type littermates
• most pups are smaller than wild-type littermates




Genotype
MGI:6150944
cn14
Allelic
Composition
Daam1tm1.1Tpy/Daam1tm1.1Tpy
Gt(ROSA)26Sortm1Sor/Gt(ROSA)26Sor+
Nkx2-5tm1(cre)Rjs/Nkx2-5+
Genetic
Background
involves: 129S1/Sv * 129S4/SvJaeSor * 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Daam1tm1.1Tpy mutation (0 available); any Daam1 mutation (61 available)
Gt(ROSA)26Sortm1Sor mutation (8 available); any Gt(ROSA)26Sor mutation (745 available)
Nkx2-5tm1(cre)Rjs mutation (1 available); any Nkx2-5 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• in E13.5 embryos
• cardiomyocytes smaller, rounded and loosely attached to each other with thin cellular projections in conotruncal regions
• absent thick protrusions from leading edges of cardiomyocytes invading non-myocardial tissue
• cardiomyocytes randomly distributed and mixed with endocardial cells at bases of blood vessels

muscle
• in E13.5 embryos
• cardiomyocytes smaller, rounded and loosely attached to each other with thin cellular projections in conotruncal regions
• absent thick protrusions from leading edges of cardiomyocytes invading non-myocardial tissue
• cardiomyocytes randomly distributed and mixed with endocardial cells at bases of blood vessels




Genotype
MGI:3851399
cn15
Allelic
Composition
Zfpm2tm1Sho/Zfpm2tm2Sho
Nkx2-5tm1(cre)Rjs/Nkx2-5+
Genetic
Background
involves: 129S1/Sv * 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nkx2-5tm1(cre)Rjs mutation (1 available); any Nkx2-5 mutation (17 available)
Zfpm2tm1Sho mutation (2 available); any Zfpm2 mutation (30 available)
Zfpm2tm2Sho mutation (1 available); any Zfpm2 mutation (30 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Abnormal heart development and coronary vasculogenesis in Nkx2-5tm1(cre)Rjs/Nkx2-5+ Zfpm2tm1Sho/Zfpm2tm2Sho mice

muscle
• compact myocardium is thin

mortality/aging

cardiovascular system
• compact myocardium is thin
• atrio-ventricular cushion defect is observed
• coronary vascular plexus is significantly decreased compared to controls; myocardium contains few coronary vessels
• large atrial septal defect is observed in embryos
• large ventricular septal defect is observed
• embryos display pericardial effusion prior to death
• embryos display hemorrhage prior to death

homeostasis/metabolism
• embryos display pericardial effusion prior to death
• embryos develop subcutaneous edema prior to death

integument
• embryos develop subcutaneous edema prior to death




Genotype
MGI:6151066
cn16
Allelic
Composition
Daam1tm1.1Tpy/Daam1tm1.1Tpy
Nkx2-5tm1(cre)Rjs/Nkx2-5+
Wnt5atm1Amc/Wnt5a+
Genetic
Background
involves: 129S1/Sv * 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Daam1tm1.1Tpy mutation (0 available); any Daam1 mutation (61 available)
Nkx2-5tm1(cre)Rjs mutation (1 available); any Nkx2-5 mutation (17 available)
Wnt5atm1Amc mutation (1 available); any Wnt5a mutation (28 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• thicker right ventricular trabecular zones, extending into lumen in E16.5 embryos
• in right ventricle of E16.5 embryos

muscle
• thicker right ventricular trabecular zones, extending into lumen in E16.5 embryos
• in right ventricle of E16.5 embryos




Genotype
MGI:6150918
cn17
Allelic
Composition
Daam1tm1.1Tpy/Daam1tm1.1Tpy
Nkx2-5tm1(cre)Rjs/Nkx2-5+
Genetic
Background
involves: 129S1/Sv * 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Daam1tm1.1Tpy mutation (0 available); any Daam1 mutation (61 available)
Nkx2-5tm1(cre)Rjs mutation (1 available); any Nkx2-5 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
N
• pulmonary artery and aorta in E16.5 embryos
• in E16.5 embryos
• thicker ventricular trabecular zones, extending into lumen
• inconsistent size of right ventricular trabeculae
• irregular spacing of right ventricular trabeculae
• disorganized left ventricular trabeculae
• left ventricular trabeculae occupy much of ventricular lumen
• in E16.5 embryos
• disorganized
• occupy much of lumen
• thicker trabecular zones
• thinner compact zones
• in E16.5 embryos
• free wall does not extend as close to heart apex of 8-months old mice as in control mice
• base closer to tricuspid valve than in controls
• base not aligned with base of left ventricle
• thicker trabecular zones
• thinner compact zones
• inconsistent size of trabeculae
• irregular spacing of trabeculae
• mean E/A ratio (flow velocity across mitral valve early in diastole divided by that late in diastole) in left ventricle of 2-months old mice is less than 1 in 8-months old mice, compared to greater than 1 in control mice
• in 8-months old mice
• lower acceleration of pulmonary artery (PA) flow, indicating reduced RV contraction force
• reduced fractional shortening
• lower acceleration of pulmonary artery (PA) flow in 8-months old mice

muscle
• in E16.5 embryos
• thicker ventricular trabecular zones, extending into lumen
• inconsistent size of right ventricular trabeculae
• irregular spacing of right ventricular trabeculae
• disorganized left ventricular trabeculae
• left ventricular trabeculae occupy much of ventricular lumen

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
intrinsic cardiomyopathy DOID:0060036 J:228507




Genotype
MGI:6150919
cn18
Allelic
Composition
Daam1tm1.1Tpy/Daam1tm1.1Tpy
Daam2tm1Tpy/Daam2tm1Tpy
Nkx2-5tm1(cre)Rjs/Nkx2-5+
Genetic
Background
involves: 129S1/Sv * 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Daam1tm1.1Tpy mutation (0 available); any Daam1 mutation (61 available)
Daam2tm1Tpy mutation (0 available); any Daam2 mutation (33 available)
Nkx2-5tm1(cre)Rjs mutation (1 available); any Nkx2-5 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
N
• compact layer width in E17.5 embryos
• in 2-months old mice
• disturbed A-band marker Actc1 striation pattern
• nearly absent intermediate filament Desmin striation
• shorter A-bands
• Z-bands faint or absent
• no apparent I-bands, H-bands or M-lines
• intersecting and disorganized thick fibers in severely affected areas
• lower-density material frequently observed between membranes of adjacent cardiomyocytes in 2-months old mice through electron microscopy
• in E17.5 embryos
• failure of trabeculae to assimilate into compact zone, resulting in occluded ventricular lumens
• wider trabecular layers
• thicker individual trabeculae
• inter-trabecular spaces filled with detached endothelial cells
• in 2-months old mice
• in 2-months old mice
• thicker walls and septa
• smaller lumen
• in 2-months old mice
• thicker walls and septa
• smaller lumen
• in 2-months old mice
• lower ejection fraction
• reduced fractional shortening
• in 2-months old mice
• acceleration of pulmonary artery (PA) flow
• reduced fractional shortening
• increased cardiomyocyte proliferation

muscle
• Z-bands faint or absent
• no apparent I-bands, H-bands or M-lines
• shorter A-bands
• in 2-months old mice
• disturbed A-band marker Actc1 striation pattern
• nearly absent intermediate filament Desmin striation
• intersecting and disorganized thick fibers in severely affected areas
• lower-density material frequently observed between membranes of adjacent cardiomyocytes in 2-months old mice through electron microscopy
• in E17.5 embryos
• failure of trabeculae to assimilate into compact zone, resulting in occluded ventricular lumens
• wider trabecular layers
• thicker individual trabeculae
• inter-trabecular spaces filled with detached endothelial cells
• disturbed A-band marker Actc1 striation pattern and shorter A-bands in cardiomyocytes of 2-months old mice
• no apparent H-bands in cardiomyocytes of 2-months old mice
• no apparent M lines in cardiomyocytes of 2-months old mice
• no apparent I-bands in cardiomyocytes of 2-months old mice
• in cardiomyocytes of some 2-months old mice
• in cardiomyocytes of some 2-months old mice




Genotype
MGI:6150926
cn19
Allelic
Composition
Daam1tm1.1Tpy/Daam1tm1.1Tpy
Nkx2-5tm1(cre)Rjs/Nkx2-5+
Wnt5atm1Amc/Wnt5atm1Amc
Genetic
Background
involves: 129S1/Sv * 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Daam1tm1.1Tpy mutation (0 available); any Daam1 mutation (61 available)
Nkx2-5tm1(cre)Rjs mutation (1 available); any Nkx2-5 mutation (17 available)
Wnt5atm1Amc mutation (1 available); any Wnt5a mutation (28 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• right ventricle shifted anterior to left ventricle in E12.5 embryos
• AV cushion atop single ventricle connected to both atria in some embryos in E12.5 embryos
• rudimentary in left ventricle of E16.5 embryos
• rudimentary in left ventricle of E16.5 embryos
• shorter than controls, not extended to the endocardial cushion in the atrioventricular canal in E12.5 embryos
• mesenchyme-like organization of cardiomyocytes at ventricle base in E12.5 embryos
• right ventricle shifted anterior to left ventricle in E12.5 embryos

mortality/aging
• very few embryos seen at E16.5 and those that are, are mostly necrotic

muscle
• rudimentary in left ventricle of E16.5 embryos
• rudimentary in left ventricle of E16.5 embryos




Genotype
MGI:5907122
cn20
Allelic
Composition
Prox1tm2Gco/Prox1tm2Gco
Nkx2-5tm1(cre)Rjs/Nkx2-5+
Genetic
Background
involves: 129S1/Sv * 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nkx2-5tm1(cre)Rjs mutation (1 available); any Nkx2-5 mutation (17 available)
Prox1tm2Gco mutation (0 available); any Prox1 mutation (31 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• cardiomegaly at 12 weeks of age

mortality/aging
• in mice that survive postnatally, lethality becomes fully penetrant between 7 and 14 weeks
• about half the expected number of mutants are seen at P10

cardiovascular system
• fast-twitch skeletal muscle gene expression is elevated in hearts
• myofibrillar disarray
• myocardial thinning at late stages
• thickening of the tricuspid valve leaflets
• mild ventricular septal defects
• the membranous portion of the ventricular septum is aneurysmal
• 20% of hearts show imperfections in the muscular ventricular septum
• cardiomegaly at 12 weeks of age
• chamber dilation in both the atria and ventricles, with severity of dilation increasing with age to eventually affect all cardiac chambers
• between 8 and 14 weeks of age, all hearts are characterized by cardiac enlargement, chamber dilation, ventricular wall thinning, cardiac stress marker activation, and systolic dysfunction
• however, no obvious concentric cardiomyocyte hypertrophy is seen
• dilated and poorly contracting ventricles at 6 weeks of age, with mean left ventricular ejection fraction less than 30%

homeostasis/metabolism
• mice develop large intra-atrial and intraventricular thrombi at 12 weeks of age, indicating hemostasis associated with poor systolic function
• thrombi are seen as early as 8 weeks of age
• large intra-atrial thrombi at 12 weeks of age
• large intraventricular thrombi at 12 weeks of age

muscle
• myofibrillar disarray
• myocardial thinning at late stages
• between 8 and 14 weeks of age, all hearts are characterized by cardiac enlargement, chamber dilation, ventricular wall thinning, cardiac stress marker activation, and systolic dysfunction
• however, no obvious concentric cardiomyocyte hypertrophy is seen
• dilated and poorly contracting ventricles at 6 weeks of age, with mean left ventricular ejection fraction less than 30%

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
dilated cardiomyopathy DOID:12930 OMIM:PS115200
J:212185




Genotype
MGI:4843919
cn21
Allelic
Composition
Shhtm1Chg/Shhtm2Amc
Nkx2-5tm1(cre)Rjs/Nkx2-5+
Genetic
Background
involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nkx2-5tm1(cre)Rjs mutation (1 available); any Nkx2-5 mutation (17 available)
Shhtm1Chg mutation (1 available); any Shh mutation (34 available)
Shhtm2Amc mutation (1 available); any Shh mutation (34 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• at E10.5 and E18.5, mice exhibit abnormal arch-artery patterning compared to in wild-type mice
• at E10.5, mice exhibit short outflow tract compared with wild-type mice
• mice exhibit cell death in the anterior heart field unlike in wild-type mice

embryo
• mice exhibit cell death in neural crest cells unlike in wild-type mice
• mice exhibit abnormal neural crest cells localization and septation defects compared with wild-type mice

cellular
• mice exhibit cell death in neural crest cells unlike in wild-type mice
• mice exhibit abnormal neural crest cells localization and septation defects compared with wild-type mice




Genotype
MGI:6159009
cn22
Allelic
Composition
Hspb7tm1.1Chen/Hspb7tm1.1Chen
Nkx2-5tm1(cre)Rjs/Nkx2-5+
Genetic
Background
involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hspb7tm1.1Chen mutation (0 available); any Hspb7 mutation (9 available)
Nkx2-5tm1(cre)Rjs mutation (1 available); any Nkx2-5 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

General and heart phenotype of Hspb7tm1.1Chen/Hspb7tm1.1Chen Nkx2-5tm1(cre)Rjs/Nkx2-5+ mice

mortality/aging
• most embryos died by E12.5, with no live embryos recovered at E13.5, similar to Hspb7tm1.2Chen homozygotes

cardiovascular system
• overall heart phenotype is stated to be similar to that observed in Hspb7tm1.2Chen homozygotes




Genotype
MGI:3783262
cn23
Allelic
Composition
Gata4tm1.1Sad/Gata4tm1.1Sad
Nkx2-5tm1(cre)Rjs/Nkx2-5+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gata4tm1.1Sad mutation (1 available); any Gata4 mutation (25 available)
Nkx2-5tm1(cre)Rjs mutation (1 available); any Nkx2-5 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• animals die between E12.5 and E15.5

cardiovascular system
• uniform reduction in ventricular wall thickness is observed in embryos
• higher levels of apoptosis (TUNEL) are observed compared to Myh6-cre; Gata4-conditional mutants

muscle
• higher levels of apoptosis (TUNEL) are observed compared to Myh6-cre; Gata4-conditional mutants

cellular
• higher levels of apoptosis (TUNEL) are observed compared to Myh6-cre; Gata4-conditional mutants




Genotype
MGI:3620974
cn24
Allelic
Composition
Bmp2tm1Jfm/Bmp2tm1Jfm
Nkx2-5tm1(cre)Rjs/Nkx2-5+
Genetic
Background
involves: 129S4/SvJaeSor
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp2tm1Jfm mutation (1 available); any Bmp2 mutation (21 available)
Nkx2-5tm1(cre)Rjs mutation (1 available); any Nkx2-5 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
muscle
• by E10.5, mutant embryos exhibit a severely compromised myocardium

mortality/aging
• although present at the expected Mendelian frequency at E9.5, all mutant embryos exhibit heart failure at E10.5

cardiovascular system
• by E10.5, mutant embryos exhibit a severely compromised myocardium
• at E9.5, all mutant embryos, including those with cardiac jelly deposition, fail to undergo epithelial to mesenchymal transition (EMT) in the forming AV endocardial cushions
• at E9.5, 43% of mutants fail to expand the space between the myocardium and the endocardium, indicating defective cardiac jelly formation
• at E9.5, mutant embryos display abnormal AV canal constriction
• by E10.5, all mutant embryos exhibit pericardial effusion

growth/size/body
• by E10.5, all mutant embryos appear growth retarded

embryo
• by E10.5, all mutant embryos appear growth retarded

homeostasis/metabolism
• by E10.5, all mutant embryos exhibit pericardial effusion




Genotype
MGI:3043044
cn25
Allelic
Composition
Bmp4tm1Jfm/Bmp4tm1.1Jfm
Nkx2-5tm1(cre)Rjs/Nkx2-5+
Genetic
Background
involves: 129S4/SvJaeSor * 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp4tm1.1Jfm mutation (0 available); any Bmp4 mutation (18 available)
Bmp4tm1Jfm mutation (1 available); any Bmp4 mutation (18 available)
Nkx2-5tm1(cre)Rjs mutation (1 available); any Nkx2-5 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• most mice died by E13.5, although an occasional fetus survived to E18.5, putatively due to variability in the expression of cre recombinase
• peripheral edema that was often associated with pericardial effusion indicated that lethality was secondary to heart failure

cardiovascular system
• severe defects in the architecture of the brancial arch artery due to impaired remodeling
• variable branching and abnormal regression and remodeling
• only one pulmonary artery originates from the ductus arteriosis and the fate of the second pulmonary artery is not clear
• majority exhibited a proximal aortopulmonary window, in which the proximal aspect of the outflow tract septum failed to form
• the left carotid artery branched either from the right brachiocephalic artery in the most severely affected embryos or directly from the aorta in more mildly affected embryos
• interruption (type B) of the aorta between the left carotid and the left subclavian arteries
• growth was delayed and the cushions were hypoplastic
• cell proliferation is reduced in the cushion mesenchyme, relative to wild-type
• observed in all examined fetuses
• putatively due to a defect in the conotruncal mesenchyme
• hypoplastic semilunar valves
• peripheral edema that was often associated with pericardial effusion

homeostasis/metabolism
• peripheral edema that was often associated with pericardial effusion
• peripheral edema that was often associated with pericardial effusion

craniofacial
• severe defects in the architecture of the brancial arch artery due to impaired remodeling
• variable branching and abnormal regression and remodeling

embryo
• severe defects in the architecture of the brancial arch artery due to impaired remodeling
• variable branching and abnormal regression and remodeling




Genotype
MGI:3763210
cn26
Allelic
Composition
Grk2tm1Gwd/Grk2tm1Gwd
Nkx2-5tm1(cre)Rjs/Nkx2-5+
Genetic
Background
involves: 129S4/SvJaeSor * 129S7/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Grk2tm1Gwd mutation (1 available); any Grk2 mutation (29 available)
Nkx2-5tm1(cre)Rjs mutation (1 available); any Nkx2-5 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
N
• unlike in Adrbk1tm1.1Gwd homozygotes, mice survive into adulthood

homeostasis/metabolism
• inotropic and lusitropic tachyphylaxis effects induced by isoproterenol are blunted
• mice exhibit a leftward shift of the peak +dP/dt response to infused doses of isoproterenol with an EC50 of 0.4+/-0.1 ng/g per minute compared to 0.7+/-0.04 ng/g per minute in Adrbk1tm1Gwd control mice
• when exposed to 30 mg/kg per day isoproterenol, mice develop adverse cardiac remodeling (decreased heart rate, wall thickness to chamber radius ratio) and decreased contractile performance with generalized interstitial and replacement fibrosis in addition to the cardiac dilation and increased left ventricle mass observed in similarly treated Adrbk1tm1Gwd control mice

cardiovascular system
N
• unlike in Adrbk1tm1.1Gwd homozygotes, heart development is normal




Genotype
MGI:5470169
cn27
Allelic
Composition
Nkx2-5tm1(cre)Rjs/Nkx2-5+
Zic3tm2.1Jwb/Y
Genetic
Background
involves: 129S4/SvJaeSor * 129S7/SvSvBrd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nkx2-5tm1(cre)Rjs mutation (1 available); any Nkx2-5 mutation (17 available)
Zic3tm2.1Jwb mutation (1 available); any Zic3 mutation (40 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype
• mice are indistinguishable from control mice with normal survival and heart development




Genotype
MGI:3851408
cn28
Allelic
Composition
Gata4tm1Sho/Gata4tm1.1Wtp
Nkx2-5tm1(cre)Rjs/Nkx2-5+
Genetic
Background
involves: 129S6/SvEvTac * 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gata4tm1.1Wtp mutation (0 available); any Gata4 mutation (25 available)
Gata4tm1Sho mutation (0 available); any Gata4 mutation (25 available)
Nkx2-5tm1(cre)Rjs mutation (1 available); any Nkx2-5 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Edema, peripheral hemorrhage, and reduced coronary plexus in Gata4tm1.1Wtp/Gata4tm1Sho Nkx2-5tm1(cre)Rjs/Nkx2-5+ embryos and enlarged dilated ventricles and increased fibrosis in Gata4tm1.1Wtp/Gata4tm1Sho Tg(Myh6-cre)2182Mds/0 hearts

muscle
• compact myocardium is thin

cardiovascular system
• compact myocardium is thin
• atrio-ventricular cushion defect is observed
• coronary vascular development is impaired
• ventricular septal defect is observed
• peripheral hemorrhage is observed at E13.5

homeostasis/metabolism
• observed at E13.5

integument
• observed at E13.5




Genotype
MGI:3851410
cn29
Allelic
Composition
Gata4tm1Sho/Gata4+
Nkx2-5tm1(cre)Rjs/Nkx2-5+
Genetic
Background
involves: 129S6/SvEvTac * 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gata4tm1Sho mutation (0 available); any Gata4 mutation (25 available)
Nkx2-5tm1(cre)Rjs mutation (1 available); any Nkx2-5 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
N
• animals show normal development




Genotype
MGI:6766587
cn30
Allelic
Composition
Hand1tm5Abfi/Hand1+
Nkx2-5tm1(cre)Rjs/Nkx2-5+
Genetic
Background
involves: 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hand1tm5Abfi mutation (0 available); any Hand1 mutation (11 available)
Nkx2-5tm1(cre)Rjs mutation (1 available); any Nkx2-5 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

cardiovascular system
• left ventricle compact zone is thin
• however, left ventricle chamber size is proportional to right ventricle size and to controls
• thin walled myocardium
• elongated outflow tract; the outflow tracts extend farther into the forming right ventricle
• poorly formed interventricular septum that is positioned to the right of the endocardial cushions
• E14.5 hearts exhibit ventricular septal defects both membranous and muscular in nature
• right ventricle appears smaller

cellular
• hearts show increased cell death within the cardiac ventricles and the outflow tract
• however, cell proliferation is not altered

homeostasis/metabolism
• the right ventricle shows signs of edema

muscle
• left ventricle compact zone is thin
• however, left ventricle chamber size is proportional to right ventricle size and to controls
• thin walled myocardium

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
NOT hypoplastic left heart syndrome DOID:9955 OMIM:241550
OMIM:614435
J:311466




Genotype
MGI:3639276
cn31
Allelic
Composition
Gata4tm1.1Wtp/Gata4tm1.1Wtp
Nkx2-5tm1(cre)Rjs/Nkx2-5+
Genetic
Background
involves: 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gata4tm1.1Wtp mutation (0 available); any Gata4 mutation (25 available)
Nkx2-5tm1(cre)Rjs mutation (1 available); any Nkx2-5 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

cardiovascular system
• defect in the EMT of endocardial cells that normally generates cushion mesenchyme
• the outflow tract endocardial cushions are small and contain few mesenchymal cells
• the atrioventricular endocardial cushions are small and contain few mesenchymal cells
• 15 of 21 embryos at E9.5 display a single predominant ventricular chamber that connects to an outflow tract located toward the rostral side of the chamber; the predominant ventricular chamber is the left ventricle
• all embryos display marked myocardial hypoplasia, affecting both the compact and trabecular myocardium
• 6 of 21 embryos at E9.5 have a normal to mildy hypoplastic right ventricle, rest have severe right ventricle hypoplasia
• by E10.5, have large pericardial effusions
• cardiomyocyte proliferation is more severely reduced in the right ventricle than in the left ventricle

embryo
• by E10.5, embryos are mildly delayed in overall development

muscle
• cardiomyocyte proliferation is more severely reduced in the right ventricle than in the left ventricle

growth/size/body
• by E10.5, embryos are mildly delayed in overall development

homeostasis/metabolism
• by E10.5, have large pericardial effusions

cellular
• cardiomyocyte proliferation is more severely reduced in the right ventricle than in the left ventricle




Genotype
MGI:5476840
cn32
Allelic
Composition
Zic3tm1.1Smwa/Y
Nkx2-5tm1(cre)Rjs/Nkx2-5+
Genetic
Background
involves: 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nkx2-5tm1(cre)Rjs mutation (1 available); any Nkx2-5 mutation (17 available)
Zic3tm1.1Smwa mutation (0 available); any Zic3 mutation (40 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype
• viable with no cardiac looping defects detected




Genotype
MGI:5490242
cn33
Allelic
Composition
Fkbp1atm1.1Shou/Fkbp1atm1Zuk
Nkx2-5tm1(cre)Rjs/Nkx2-5+
Genetic
Background
involves: 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fkbp1atm1.1Shou mutation (0 available); any Fkbp1a mutation (12 available)
Fkbp1atm1Zuk mutation (0 available); any Fkbp1a mutation (12 available)
Nkx2-5tm1(cre)Rjs mutation (1 available); any Nkx2-5 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

cardiovascular system
• mutants phenocopy Fkbp1atm1Zuk mice, showing hypertrabeculation, noncompaction, and ventral septal defects (VSDs) with complete penetrance




Genotype
MGI:5543776
cn34
Allelic
Composition
Ehmt1tm2Yshk/Ehmt1tm2Yshk
Nkx2-5tm1(cre)Rjs/Nkx2-5+
Genetic
Background
involves: 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ehmt1tm2Yshk mutation (0 available); any Ehmt1 mutation (70 available)
Nkx2-5tm1(cre)Rjs mutation (1 available); any Nkx2-5 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• one mouse that survived to weaning died shortly after
• despite being present at E18.5, only one mouse was found at weaning and died shortly after
• no dead mice are detected before weaning indicating neonatal lethality

cardiovascular system
• the anterior leaflet has an apparent cleft




Genotype
MGI:4843927
cn35
Allelic
Composition
Smotm2Amc/Smotm2.1Amc
Nkx2-5tm1(cre)Rjs/Nkx2-5+
Genetic
Background
involves: 129S7/SvEvBrd * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nkx2-5tm1(cre)Rjs mutation (1 available); any Nkx2-5 mutation (17 available)
Smotm2.1Amc mutation (0 available); any Smo mutation (30 available)
Smotm2Amc mutation (1 available); any Smo mutation (30 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• at E10.5 and E18.5, mice exhibit abnormal arch-artery patterning compared to in wild-type mice
• at E10.5, mice exhibit short outflow tract compared with wild-type mice
• mice exhibit cell death in the anterior heart field unlike in wild-type mice

embryo
• mice exhibit cell death in neural crest cells unlike in wild-type mice
• mice exhibit abnormal neural crest cells localization and septation defects compared with wild-type mice

cellular
• mice exhibit cell death in neural crest cells unlike in wild-type mice
• mice exhibit abnormal neural crest cells localization and septation defects compared with wild-type mice




Genotype
MGI:5792841
cn36
Allelic
Composition
Gt(ROSA)26Sortm1.1(CAG-Mirc20)Eem/Gt(ROSA)26Sor+
Nkx2-5tm1(cre)Rjs/Nkx2-5+
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sortm1.1(CAG-Mirc20)Eem mutation (0 available); any Gt(ROSA)26Sor mutation (745 available)
Nkx2-5tm1(cre)Rjs mutation (1 available); any Nkx2-5 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• at P20
• increased heart weight to tibia length ratio at P20

mortality/aging
• mice die by P28

cardiovascular system
• at P17, cardiomyocytes exhibit an increase in the percentage of mononucleated and binucleated cells with a decrease in the percentage of multinucleated cells compared with control cells
• disorganized sarcomeric structure at P20
• at P20
• increased heart weight to tibia length ratio at P20
• reduced ejection fraction and fractional shortening
• increased cardiomyocytes proliferation in postnatal hearts

cellular

muscle
• at P17, cardiomyocytes exhibit an increase in the percentage of mononucleated and binucleated cells with a decrease in the percentage of multinucleated cells compared with control cells
• disorganized sarcomeric structure at P20
• reduced ejection fraction and fractional shortening




Genotype
MGI:3768916
cn37
Allelic
Composition
Frs2tm1Fwan/Frs2tm1Fwan
Nkx2-5tm1(cre)Rjs/?
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Frs2tm1Fwan mutation (0 available); any Frs2 mutation (58 available)
Nkx2-5tm1(cre)Rjs mutation (1 available); any Nkx2-5 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• newborn mice do not have a fully developed wall separating the ventricules




Genotype
MGI:3046805
cn38
Allelic
Composition
Nkx2-5tm1(cre)Rjs/Nkx2-5+
Tbx1tm1Bld/Tbx1tm3Bld
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nkx2-5tm1(cre)Rjs mutation (1 available); any Nkx2-5 mutation (17 available)
Tbx1tm1Bld mutation (1 available); any Tbx1 mutation (22 available)
Tbx1tm3Bld mutation (1 available); any Tbx1 mutation (22 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• the aortic arch abnormalities are milder than those present in Tbx1tm1Bld homozygotes as the 3rd and 6th pharyngeal arch artery form and develop normally while the 4th pharyngeal arch artery is absent or hypoplastic
• the 4th pharyngeal arch artery is absent or hypoplastic
• the 4th pharyngeal arch artery is absent or hypoplastic
• the same cardiovascular phenotype as in Tbx1tm1Bld homozygotes is seen including truncus arteriosus

cellular
• the mitotic index in the secondary heart field and adjacent splanchnic mesoderm is reduced by 18% and 19%, respectively

craniofacial
N
• none of the mutants had cleft palates at E18.5 unlike Tbx1tm1Bld homozygotes
• the aortic arch abnormalities are milder than those present in Tbx1tm1Bld homozygotes as the 3rd and 6th pharyngeal arch artery form and develop normally while the 4th pharyngeal arch artery is absent or hypoplastic
• the 4th pharyngeal arch artery is absent or hypoplastic
• the 4th pharyngeal arch artery is absent or hypoplastic

immune system
• the thymus is present but smaller than normal with widely separated lobes

embryo
• the aortic arch abnormalities are milder than those present in Tbx1tm1Bld homozygotes as the 3rd and 6th pharyngeal arch artery form and develop normally while the 4th pharyngeal arch artery is absent or hypoplastic
• the 4th pharyngeal arch artery is absent or hypoplastic
• the 4th pharyngeal arch artery is absent or hypoplastic

hematopoietic system
• the thymus is present but smaller than normal with widely separated lobes

endocrine/exocrine glands
• the thymus is present but smaller than normal with widely separated lobes

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
DiGeorge syndrome DOID:11198 OMIM:188400
J:91013




Genotype
MGI:5571466
cn39
Allelic
Composition
Adam17tm1.1Wesh/Adam17tm1.1Wesh
Nkx2-5tm1(cre)Rjs/Nkx2-5+
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6 * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Adam17tm1.1Wesh mutation (0 available); any Adam17 mutation (43 available)
Nkx2-5tm1(cre)Rjs mutation (1 available); any Nkx2-5 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• at E18.5

mortality/aging
N
• mice exhibit normal neonatal survival

cardiovascular system
• reduced myocardial compaction at E18.5
• at E18.5
• at E18.5

muscle
• reduced myocardial compaction at E18.5
• at E18.5




Genotype
MGI:5603566
cn40
Allelic
Composition
Akap6tm1.1Mskf/Akap6tm1.1Mskf
Nkx2-5tm1(cre)Rjs/0
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Akap6tm1.1Mskf mutation (1 available); any Akap6 mutation (68 available)
Nkx2-5tm1(cre)Rjs mutation (1 available); any Nkx2-5 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype
• no overt phenotype is observed by 6 months of age




Genotype
MGI:5446510
cn41
Allelic
Composition
Yap1tm1.1Eno/Yap1tm1.1Eno
Nkx2-5tm1(cre)Rjs/Nkx2-5+
Genetic
Background
involves: 129S/SvEv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nkx2-5tm1(cre)Rjs mutation (1 available); any Nkx2-5 mutation (17 available)
Yap1tm1.1Eno mutation (0 available); any Yap1 mutation (34 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
muscle
• abnormally thin myocardium
• ventricular myocyte number is significantly reduced
• cardiac looping and chamber formation are normal

mortality/aging

cardiovascular system
• abnormally thin myocardium
• ventricular myocyte number is significantly reduced
• cardiac looping and chamber formation are normal
• slower heart beat at E9.5
• mice are normal at E8.5




Genotype
MGI:3851519
cx42
Allelic
Composition
Nkx2-5tm1(cre)Rjs/Nkx2-5+
Nsd2tm1Ykan/Nsd2+
Genetic
Background
involves: 129S2/SvPas * 129S7/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nkx2-5tm1(cre)Rjs mutation (1 available); any Nkx2-5 mutation (17 available)
Nsd2tm1Ykan mutation (0 available); any Nsd2 mutation (22 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• hypoplasia of the septum secundum was observed more frequently in E18.5 embryos than in controls
• one-third of E18.5 embryos have atrial septum defects
• one-third of E18.5 embryos have membranous ventricular septum defects





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last database update
01/18/2022
MGI 6.17
The Jackson Laboratory