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

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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/17/2024 MGI 6.24