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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Gata4tm1.2Sad
targeted mutation 1.2, Stephen A Duncan
MGI:3793424
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cn1
Gata4tm1.1Sad/Gata4tm1.2Sad
Pax3tm1(cre)Joe/Pax3+
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J MGI:5775442
cn2
Gata4tm1.1Sad/Gata4tm1.2Sad
Tg(Prrx1-cre)1Cjt/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL/J MGI:5775440
cn3
Gata4tm1.1Sad/Gata4tm1.2Sad
Pax3Sp-d/Pax3Sp-d
Tg(Prrx1-cre)1Cjt/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL/J MGI:5775444
cx4
Gata4tm1.2Sad/Gata4tm1.2Sad
Gata6tm3.1Sad/Gata6tm3.1Sad
involves: 129 MGI:3803459


Genotype
MGI:5775442
cn1
Allelic
Composition
Gata4tm1.1Sad/Gata4tm1.2Sad
Pax3tm1(cre)Joe/Pax3+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
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)
Pax3tm1(cre)Joe mutation (1 available); any Pax3 mutation (21 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
muscle
N
• mice exhibit normal diaphragm development




Genotype
MGI:5775440
cn2
Allelic
Composition
Gata4tm1.1Sad/Gata4tm1.2Sad
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
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 (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• most mice die within a few hours of birth

muscle
• 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

homeostasis/metabolism
• 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
OMIM:222400
OMIM:610187
J:231793




Genotype
MGI:5775444
cn3
Allelic
Composition
Gata4tm1.1Sad/Gata4tm1.2Sad
Pax3Sp-d/Pax3Sp-d
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
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)
Pax3Sp-d mutation (1 available); any Pax3 mutation (21 available)
Tg(Prrx1-cre)1Cjt mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
muscle
N
• mice do not develop diaphragmatic hernias

respiratory system
N
• mice do not exhibit lung defects




Genotype
MGI:3803459
cx4
Allelic
Composition
Gata4tm1.2Sad/Gata4tm1.2Sad
Gata6tm3.1Sad/Gata6tm3.1Sad
Genetic
Background
involves: 129
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gata4tm1.2Sad mutation (0 available); any Gata4 mutation (23 available)
Gata6tm3.1Sad mutation (0 available); any Gata6 mutation (6 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• failure to form the heart tube is specific to the development of the cardiogenic mesoderm without effects on gastrulation or mesodermal migration
• differentiated cardiomyocytes are not found in E7.5 or E8.5 embryos
• cardiac myocytes in E8.5 embryos fail to express smooth muscle actin, alpha myosin heavy chain, and alpha cardiac actin
• the heart tube fails to form in E8.5 embryos

embryo
• failure to form the heart tube is specific to the development of the cardiogenic mesoderm without effects on gastrulation or mesodermal migration





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last database update
04/16/2019
MGI 6.13
The Jackson Laboratory