Phenotypes associated with this allele

• Allele Symbol: Gata4^tm1Jml
• Allele Name: targeted mutation 1, Jeffrey M Leiden
• Allele ID: MGI:2386265
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gata4^tm1Jml/Gata4^tm1Jml	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CD-1	MGI:2664938
cx2	Atoh8^tm1.1Mlkn/Atoh8^tm1.1Mlkn Gata4^tm1Jml/Gata4^+	involves: 129 * 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:5532940
cx3	Gata4^tm1Jml/Gata4^+ Gata5^tm1Eem/Gata5^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:4418209
cx4	Gata4^tm1Jml/Gata4^+ Gata5^tm1Eem/Gata5^tm1Eem	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:4418210

Genotype
MGI:2664938

hm1

• Allelic Composition: Gata4^tm1Jml/Gata4^tm1Jml
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CD-1

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

cardiovascular system

abnormal heart development ( J:40144 )

• E8.5 embryos lacked ventral pericardial cavity and heart tube

absent heart tube ( J:40144 )

• absent in E8.5 embryos

digestive/alimentary system

abnormal foregut morphology ( J:40144 )

• E10.5 embryos had defective gut tube formation

embryo

abnormal dorsal-ventral axis patterning ( J:40144 )

• defective ventral-dorsal folding

abnormal rostral-caudal axis patterning ( J:40144 )

• defective rostral-caudal folding

decreased embryo size ( J:40144 )

• embryos smaller than wild-type and heterozygous littermates

abnormal visceral yolk sac morphology ( J:40144 )

• defective closure of yolk sac at ventral surface of embryos

growth/size/body

decreased embryo size ( J:40144 )

• embryos smaller than wild-type and heterozygous littermates

Genotype
MGI:5532940

cx2

• Allelic Composition: Atoh8^tm1.1Mlkn/Atoh8^tm1.1Mlkn; Gata4^tm1Jml/Gata4⁺
• Genetic Background: involves: 129 * 129S1/Sv * 129X1/SvJ * C57BL/6

mortality/aging

lethality during fetal growth through weaning, incomplete penetrance ( J:203454 )

• small decrease in viability at P1 that becomes more pronounced at P14

• expected numbers are found at E17.5 indicating loss occurs between E17.5 and P1

cardiovascular system

cardiovascular system phenotype ( J:203454 )

N • no phenotype in the heart as measured by echocardiography or histology at E17.5

N • normal myocardial or contractile function

respiratory system

respiratory system phenotype ( J:203454 )

N • despite expression in the lung mesenchyme, no gross defects in lung development are detected

Genotype
MGI:4418209

cx3

• Allelic Composition: Gata4^tm1Jml/Gata4⁺; Gata5^tm1Eem/Gata5⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Ventriclular abnormalities in Gata4^tm1Jml/Gata4⁺ Gata5^tm1Eem/Gata5^tm1Eem and Gata4^tm1Jml/Gata4⁺ Gata5^tm1Eem/Gata5⁺ mice

cardiovascular system

thin myocardium compact layer ( J:155855 )

• at E14.5, myocardial compact zone thickness is reduced 32% compared to in wild-type mice

thin ventricle myocardium compact layer ( J:155855 )

• as early as E12.5, the thickness of the ventricular compact myocardial layer is reduced 43% compared to in wild-type mice

sinus venosus atrial septal defect ( J:155855 )

• some mice exhibit abnormal conoventricular septal defects (incomplete penetrance)

muscle

thin myocardium compact layer ( J:155855 )

• at E14.5, myocardial compact zone thickness is reduced 32% compared to in wild-type mice

thin ventricle myocardium compact layer ( J:155855 )

• as early as E12.5, the thickness of the ventricular compact myocardial layer is reduced 43% compared to in wild-type mice

Genotype
MGI:4418210

cx4

• Allelic Composition: Gata4^tm1Jml/Gata4⁺; Gata5^tm1Eem/Gata5^tm1Eem
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Ventriclular abnormalities in Gata4^tm1Jml/Gata4⁺ Gata5^tm1Eem/Gata5^tm1Eem and Gata4^tm1Jml/Gata4⁺ Gata5^tm1Eem/Gata5⁺ mice

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:155855 )

• mice do not survive past E14.5 with no live mice found in newborn litters

cardiovascular system

abnormal trabecula carnea morphology ( J:155855 )

• fine, abnormal trabecular structures

thin ventricle myocardium compact layer ( J:155855 )

• at E12.5, the thickness of the ventricular compact myocardial layer is reduced 61% compared to in wild-type mice

• at E14.5, the ventricular compact myocardial layer thickness is reduced 84% compared to in wild-type mice

ventricular myocardium compact layer hypoplasia ( J:155855 )

conotruncal ridge hypoplasia ( J:155855 )

• conotruncal cushions are reduced in size and altered in location compared to in wild-type mice leading to abnormalities in ventriculoarterial positioning

atrioventricular cushion hypoplasia ( J:155855 )

• endocardial cushions are hypoplastic at E12.5

ostium primum atrial septal defect ( J:155855 )

• mice exhibit a primum atrial septal defect unlike wild-type mice

complete atrioventricular septal defect ( J:155855 )

• mice exhibit a common atrioventricular canal and occasionally an unbalanced canal leading to a functionally univentricular heart

unbalanced complete common atrioventricular canal ( J:155855 )

• occasionally

inlet ventricular septal defect ( J:155855 )

• mice exhibit large inlet-type ventricular septal defect

abnormal heart left ventricle outflow tract morphology ( J:155855 )

• mice exhibit moderately hypoplastic and anteriorly malaligned left ventricular outflow tracts

abnormal heart right ventricle outflow tract morphology ( J:155855 )

• the right ventricular outflow tract is more posteriorly positioned than in wild-type mice

thin ventricular wall ( J:155855 )

• mice exhibit a thinning of the ventricular wall

hemorrhage ( J:155855 )

• at E14.5, mice exhibit systemic hemorrhage

decreased fetal cardiomyocyte proliferation ( J:155855 )

• proliferation of cells in the ventricular myocardium is reduced by 51% at E12.5 and 55% at E14.5 compared to in wild-type mice

• however, apoptosis rates are normal

congestive heart failure ( J:155855 )

• at E14.5

homeostasis/metabolism

edema ( J:155855 )

• at E14.5, mice exhibit body wall edema

muscle

abnormal trabecula carnea morphology ( J:155855 )

• fine, abnormal trabecular structures

thin ventricle myocardium compact layer ( J:155855 )

• at E12.5, the thickness of the ventricular compact myocardial layer is reduced 61% compared to in wild-type mice

• at E14.5, the ventricular compact myocardial layer thickness is reduced 84% compared to in wild-type mice

ventricular myocardium compact layer hypoplasia ( J:155855 )

decreased fetal cardiomyocyte proliferation ( J:155855 )

• proliferation of cells in the ventricular myocardium is reduced by 51% at E12.5 and 55% at E14.5 compared to in wild-type mice

• however, apoptosis rates are normal

cellular

decreased fetal cardiomyocyte proliferation ( J:155855 )

• proliferation of cells in the ventricular myocardium is reduced by 51% at E12.5 and 55% at E14.5 compared to in wild-type mice

• however, apoptosis rates are normal