Analysis Tools|
Allele Symbol Allele Name Allele ID |
Gata4+ wild type MGI:2430574 |
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| Summary |
15 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• nearly half of mice die within 1 day of birth
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• dilated distal airways and patchy thickening of mesenchyme in some newborn mice
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• some mice exhibit reduced artery density in the proximal airways compared with wild-type mice
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• enlarged in some mice
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• dilated distal airways in 7 of 21 mice between P1 and P8, more pronounced in accessory and middle lobes of the right lung
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• some mice exhibit reduced artery density in the proximal airways compared with wild-type mice
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• fatal cardiac lesions in some newborn
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• in some newborn mice
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• in some newborn mice
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• 6 of 21 mice exhibit an abnormal fusion of the central tendon to the liver surface with disorganized collagen bundles unlike in wild-type mice
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• in the ventral midline of some neonatal and adult mice with portions of the hernia sac near but not adherent to the liver contains a mixture of hepatocytes and connective tissue cells
• 3 of 21 mice exhibit overt herniation
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• increased apoptosis without an affect on cell proliferation in amuscular diaphragm at E13.5
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• 6 of 21 mice exhibit an abnormal fusion of the central tendon to the liver surface with disorganized collagen bundles unlike in wild-type mice
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 N |
• young adult females are fertile with no significant differences in average litter size, frequency of parturition, or ovarian follicular development relative to wild-type controls
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• ovaries of eCG-stimulated immature females are significantly smaller than eCG-treated wild-type ovaries
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• in response to exogenous gonadotropins, ovaries weigh significantly less than gonadotropin-stimulated wild-type ovaries
• however, unstimulated ovaries exhibit normal weight
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• ovaries of gonadotropin-stimulated immature females are significantly smaller, release fewer oocytes, produce less estrogen, and exhibit significantly lower mRNA levels of the steroidogenic genes Star, Cyp11a1, and Cyp19a1 than gonadotropin-stimulated wild-type ovaries
• however, basal ovarian levels of mRNA for Star, Cyp11a1 and Cyp19a1 are normal
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• following eCG stimulation, uteri appear to be hypoestrogenic: glandular elements of the endometrial layer appear less complex, and only scattered glands are found in the stroma
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• uteri of eCG-stimulated immature females weigh significantly less than eCG-treated wild-type uteri
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• females exhibit significantly delayed puberty, as indicated by a delay in the onset of estrous cyclicity
• onset of vaginal cornification is moderately but not significantly delayed
• delay in puberty is not due to impaired growth
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• onset of estrous cyclicity is delayed an average of 12 days relative to wild-type females
• however, average cycle length and the proportion of time spent in any stage of the estrous cycle remain normal
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• in response to exogenous gonadotropins, immature females release significantly fewer oocytes into the oviducts than superovulated wild-type controls
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• following eCG stimulation, serum estradiol (E2) levels are significantly lower than in eCG-treated wild-type females
• however, basal serum E2 levels are relatively normal
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• ovaries of eCG-stimulated immature females are significantly smaller than eCG-treated wild-type ovaries
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• in response to exogenous gonadotropins, ovaries weigh significantly less than gonadotropin-stimulated wild-type ovaries
• however, unstimulated ovaries exhibit normal weight
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• ovaries of gonadotropin-stimulated immature females are significantly smaller, release fewer oocytes, produce less estrogen, and exhibit significantly lower mRNA levels of the steroidogenic genes Star, Cyp11a1, and Cyp19a1 than gonadotropin-stimulated wild-type ovaries
• however, basal ovarian levels of mRNA for Star, Cyp11a1 and Cyp19a1 are normal
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| congenital diaphragmatic hernia | DOID:3827 |
OMIM:142340 OMIM:222400 OMIM:610187 |
J:117367 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• Background Sensitivity: heterozygous carriers with the A/HeJ Y Chromosome on the C57BL/6JEi background develop ovaries
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Atrial septal defects and semilunar valve stenosis in Gata4tm1Grg/Gata4+ mice
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• in 4 of 12 mutants
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• thin
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• increase in the frequency of mice with intermittent shunting of blood between the atria
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• thickened aortic valve leaflets
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• thickened pulmonary valve leaflets
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• in 2 of 12 mutants
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• at E11.5 and E13.5
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• at E11.5 and E13.5
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• at E11.5 and E13.5
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| atrial heart septal defect 2 | DOID:0110107 |
OMIM:607941 |
J:185124 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• viable and present at the expected Mendelian ratio at P1
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• VSD in all newborns, majority with atrio-ventricular septal defects (AVSDs)
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• mice born at below Mendelian ratios
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• 63% newborns die by age P1
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| atrioventricular septal defect | DOID:0050651 |
OMIM:606215 OMIM:614430 OMIM:614474 |
J:322763 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mutants are viable through E15.5, with a small number recovered at weaning
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• a statistically significant decrease in sub-epicardicardial endothelial cells is observed at E13.5
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• animals show normal development
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• animals show normal development
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 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
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| N |
• no phenotype in the heart as measured by echocardiography or histology at E17.5
• normal myocardial or contractile function
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| N |
• despite expression in the lung mesenchyme, no gross defects in lung development are detected
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Ventriclular abnormalities in Gata4tm1Jml/Gata4+ Gata5tm1Eem/Gata5tm1Eem and Gata4tm1Jml/Gata4+ Gata5tm1Eem/Gata5+ mice
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• mice do not survive past E14.5 with no live mice found in newborn litters
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• fine, abnormal trabecular structures
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• 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
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• conotruncal cushions are reduced in size and altered in location compared to in wild-type mice leading to abnormalities in ventriculoarterial positioning
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• endocardial cushions are hypoplastic at E12.5
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• mice exhibit a primum atrial septal defect unlike wild-type mice
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• mice exhibit a common atrioventricular canal and occasionally an unbalanced canal leading to a functionally univentricular heart
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• occasionally
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• mice exhibit large inlet-type ventricular septal defect
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• mice exhibit moderately hypoplastic and anteriorly malaligned left ventricular outflow tracts
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• the right ventricular outflow tract is more posteriorly positioned than in wild-type mice
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• mice exhibit a thinning of the ventricular wall
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• at E14.5, mice exhibit systemic hemorrhage
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• 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
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• at E14.5
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• fine, abnormal trabecular structures
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• 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
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• 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
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• 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
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Ventriclular abnormalities in Gata4tm1Jml/Gata4+ Gata5tm1Eem/Gata5tm1Eem and Gata4tm1Jml/Gata4+ Gata5tm1Eem/Gata5+ mice
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• at E14.5, myocardial compact zone thickness is reduced 32% compared to in wild-type mice
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• as early as E12.5, the thickness of the ventricular compact myocardial layer is reduced 43% compared to in wild-type mice
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• some mice exhibit abnormal conoventricular septal defects (incomplete penetrance)
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• at E14.5, myocardial compact zone thickness is reduced 32% compared to in wild-type mice
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• as early as E12.5, the thickness of the ventricular compact myocardial layer is reduced 43% compared to in wild-type mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• colonic aganglionosis is caused by a cell-autonomous defect in enteric neural crest cell migration
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• colonic aganglionosis is caused by a cell-autonomous defect in enteric neural crest cell migration
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• neural crest cells accumulate in the vicinity of the dorsal neural tube, migrate more slowly, and oscillate rather than persist in their ventrally oriented migration
• neural crest cell speed and directionality at the leading edge of migration streams are impaired
• hindgut colonization by enteric neural crest cells of vagal origin is delayed at E13.5 but not at E15.5
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• neural crest cells accumulate in the vicinity of the dorsal neural tube, migrate more slowly, and oscillate rather than persist in their ventrally oriented migration
• neural crest cell speed and directionality at the leading edge of migration streams are impaired
• hindgut colonization by enteric neural crest cells of vagal origin is delayed at E13.5 but not at E15.5
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• lethality by E13.5
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• cranial and intersomitic vasculature is enlarged and disorganized at E10.5
• exhibit thin and dilated vessels
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• hypoplastic transcending aortic arch
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• hypoplastic aorta at E12.5
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• dilated aorta at E12.5
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• show a reduction in the arterial smooth muscle
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• at E12.5, mutants show less smooth muscle in the medial layer of the aorta
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• hearts at E13.5 contain only two myocardial cell layers within the compact zone instead of the normal five layers
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• myocardial thinning becomes apparent at E12.5
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• exhibit patterning defects of the outflow tract at E12
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• seen at E12, resulting from incomplete septation of the conotruncus into the aorta and pulmonary artery
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• exhibit a modest delay in the formation of the ventricular septum beginning at E11.5
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• show ventricular septal defects that persist until death
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• display widespread hemorrhages by E11.5
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• display reduced cardiomyocyte proliferation at E10.5
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• heartbeat at E11.75 is sluggish and irregular
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• reduction in the number of mature erythrocytes in peripheral blood
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• show a reduction in the arterial smooth muscle
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• at E12.5, mutants show less smooth muscle in the medial layer of the aorta
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• hearts at E13.5 contain only two myocardial cell layers within the compact zone instead of the normal five layers
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• myocardial thinning becomes apparent at E12.5
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• display reduced cardiomyocyte proliferation at E10.5
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• display reduced cardiomyocyte proliferation at E10.5
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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 03/18/2025 MGI 6.24 |
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