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Phenotypes Associated with This Genotype
Genotype
MGI:5441538
Allelic
Composition
Gata4tm1.2Wtp/Gata4+
Genetic
Background
B6.Cg-Gata4tm1.2Wtp
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gata4tm1.2Wtp mutation (0 available); any Gata4 mutation (25 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• nearly half of mice die within 1 day of birth

respiratory system
• dilated distal airways and patchy thickening of mesenchyme in some newborn mice
• some mice exhibit reduced artery density in the proximal airways compared with wild-type mice
• enlarged in some mice
• dilated distal airways in 7 of 21 mice between P1 and P8, more pronounced in accessory and middle lobes of the right lung

cardiovascular system
• some mice exhibit reduced artery density in the proximal airways compared with wild-type mice
• fatal cardiac lesions in some newborn
• in some newborn mice
• in some newborn mice

muscle
• 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
• 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

cellular
• increased apoptosis without an affect on cell proliferation in amuscular diaphragm at E13.5

skeleton
• 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

reproductive system
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
• ovaries of eCG-stimulated immature females are significantly smaller than eCG-treated wild-type ovaries
• in response to exogenous gonadotropins, ovaries weigh significantly less than gonadotropin-stimulated wild-type ovaries
• however, unstimulated ovaries exhibit normal weight
• 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
• 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
• uteri of eCG-stimulated immature females weigh significantly less than eCG-treated wild-type uteri
• 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
• 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
• in response to exogenous gonadotropins, immature females release significantly fewer oocytes into the oviducts than superovulated wild-type controls

homeostasis/metabolism
• 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

endocrine/exocrine glands
• ovaries of eCG-stimulated immature females are significantly smaller than eCG-treated wild-type ovaries
• in response to exogenous gonadotropins, ovaries weigh significantly less than gonadotropin-stimulated wild-type ovaries
• however, unstimulated ovaries exhibit normal weight
• 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

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


Contributing Projects:
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
09/22/2022
MGI 6.21
The Jackson Laboratory