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Phenotypes Associated with This Genotype
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
• most mice die within a few hours of birth

• 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

• 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

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
MGI 6.14
The Jackson Laboratory