All Phenotypes Gata4<tm1.2Sad> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Gata4^tm1.1Sad/Gata4^tm1.2Sad Pax3^tm1(cre)Joe/Pax3⁺	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:5775442
cn2	Gata4^tm1.1Sad/Gata4^tm1.2Sad Tg(Prrx1-cre)1Cjt/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL/J	MGI:5775440
cn3	Gata4^tm1.1Sad/Gata4^tm1.2Sad Pax3^Sp-d/Pax3^Sp-d Tg(Prrx1-cre)1Cjt/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL/J	MGI:5775444
cx4	Gata4^tm1.2Sad/Gata4^tm1.2Sad Gata6^tm3.1Sad/Gata6^tm3.1Sad	involves: 129	MGI:3803459

Allelic Composition	Gata4^tm1.1Sad/Gata4^tm1.2Sad Pax3^tm1(cre)Joe/Pax3⁺
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gata4^tm1.1Sad mutation (1 available); any Gata4 mutation (36 available)
Gata4^tm1.2Sad mutation (0 available); any Gata4 mutation (36 available)
Pax3^tm1(cre)Joe mutation (1 available); any Pax3 mutation (50 available)

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

muscle

muscle phenotype ( J:231793 )

N	• mice exhibit normal diaphragm development

♀	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

Allelic Composition	Gata4^tm1.1Sad/Gata4^tm1.2Sad Pax3^Sp-d/Pax3^Sp-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:
Gata4^tm1.1Sad mutation (1 available); any Gata4 mutation (36 available)
Gata4^tm1.2Sad mutation (0 available); any Gata4 mutation (36 available)
Pax3^Sp-d mutation (1 available); any Pax3 mutation (50 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)

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

muscle

muscle phenotype ( J:231793 )

N	• mice do not develop diaphragmatic hernias

respiratory system

respiratory system phenotype ( J:231793 )

N	• mice do not exhibit lung defects

Allelic Composition	Gata4^tm1.2Sad/Gata4^tm1.2Sad Gata6^tm3.1Sad/Gata6^tm3.1Sad
Genetic Background	involves: 129

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gata4^tm1.2Sad mutation (0 available); any Gata4 mutation (36 available)
Gata6^tm3.1Sad mutation (0 available); any Gata6 mutation (35 available)

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

cardiovascular system

abnormal cardiogenic mesoderm morphology ( J:135185 )

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

abnormal fetal cardiomyocyte morphology ( J:135185 )

• 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

absent heart tube ( J:135185 )

• the heart tube fails to form in E8.5 embryos

absent heart ( J:135185 )

embryo

abnormal cardiogenic mesoderm morphology ( J:135185 )

• 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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