Phenotypes Associated with This Genotype

Genotype
MGI:5775440

• Allelic Composition: Gata4^tm1.1Sad/Gata4^tm1.2Sad; Tg(Prrx1-cre)1Cjt/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL/J

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

mortality/aging

neonatal lethality ( J:231793 )

• most mice die within a few hours of birth

muscle

abnormal diaphragm development ( J:231793 )

• 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

abnormal muscle precursor cell morphology ( J:231793 )

• the number of muscle progenitors is reduced by increased cell death and decreased proliferation

diaphragmatic hernia ( J:231793 )

• 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

abnormal muscle precursor cell physiology ( J:231793 )

• 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

homeostasis/metabolism

decreased blood oxygen saturation level ( J:231793 )

• mice exhibit low oxygen blood saturation

respiratory system

abnormal lung lobe morphology ( J:231793 )

• defects in the lung lobar structure

abnormal lung volume ( J:231793 )

• 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 OMIM:222400 OMIM:610187	J:231793