Phenotypes associated with this allele

• Allele Symbol: Gata4^tm1Eno
• Allele Name: targeted mutation 1, Eric N Olson
• Allele ID: MGI:2179443
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gata4^tm1Eno/Gata4^tm1Eno	involves: 129S7/SvEvBrd * C57BL/6	MGI:2665027
ht2	Gata4^tm1Eno/Gata4^+	B6.129S7-Gata4^tm1Eno	MGI:5437226
cx3	Gata4^tm1Eno/Gata4^+ Gata6^tm1Eno/Gata6^+	involves: 129/Sv * 129S7/SvEvBrd * C57BL/6	MGI:3663413

Genotype
MGI:2665027

hm1

• Allelic Composition: Gata4^tm1Eno/Gata4^tm1Eno
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

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

mortality/aging

embryonic lethality, complete penetrance ( J:40145 )

• death between E7.0 and E9.5

cardiovascular system

abnormal heart development ( J:40145 )

abnormal heart tube morphology ( J:40145 )

• defective formation

cardia bifida ( J:40145 )

• lack a ventrally located heart tube but contain two independent heart tubes on either lateral edge (bilateral heart tubes)

digestive/alimentary system

absent foregut ( J:40145 )

• the endoderm and overlaying splanchnic mesoderm are unable to move ventrally, resulting in the lack of foregut formation

embryo

abnormal developmental patterning ( J:40145 )

• embryos develop partially outside the yolk sac

abnormal dorsal-ventral axis patterning ( J:40145 )

• lack any structures ventral to the notochord

• embryos never fold ventrally resulting in an embryo that lies outside the yolk sac

• overlying ectoderm and somatic mesoderm never move ventrally so that the amnion remains dorsal and does not surround the embryo

failure to gastrulate ( J:40145 )

• about one-third of embryos arrest at the egg cylinder stage and fail to gastrulate

embryonic growth arrest ( J:40145 )

• about 40% of E8.5 and 30% of E9.5 embryos are severely delayed or arrested at the egg cylinder stage

embryonic growth retardation ( J:40145 )

• exhibit a general developmental delay by half a day by E7.5; show a delay in closure of the proamniotic canal and incomplete cavitation of the exocoelomic cavity

decreased embryo size ( J:40145 )

abnormal neural tube morphology ( J:40145 )

• the head region is slightly delayed in development at E9.5 and the head folds have not fused completely

abnormal extraembryonic coelom morphology ( J:40145 )

• by E75, show incomplete cavitation of the exocoelomic cavity, resulting in protrusion of the head and tail from the posterior aspect of the yolk sac

growth/size/body

embryonic growth retardation ( J:40145 )

• exhibit a general developmental delay by half a day by E7.5; show a delay in closure of the proamniotic canal and incomplete cavitation of the exocoelomic cavity

decreased embryo size ( J:40145 )

nervous system

abnormal neural tube morphology ( J:40145 )

• the head region is slightly delayed in development at E9.5 and the head folds have not fused completely

Genotype
MGI:5437226

ht2

• Allelic Composition: Gata4^tm1Eno/Gata4⁺
• Genetic Background: B6.129S7-Gata4^tm1Eno

muscle

diaphragmatic hernia ( J:187416 )

• retrosternal diaphragmatic hernias are occasionally seen

Genotype
MGI:3663413

cx3

• Allelic Composition: Gata4^tm1Eno/Gata4⁺; Gata6^tm1Eno/Gata6⁺
• Genetic Background: involves: 129/Sv * 129S7/SvEvBrd * C57BL/6

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:111824 )

• lethality by E13.5

cardiovascular system

abnormal blood vessel morphology ( J:111824 )

• cranial and intersomitic vasculature is enlarged and disorganized at E10.5

• exhibit thin and dilated vessels

abnormal aorta morphology ( J:111824 )

aortic arch hypoplasia ( J:111824 )

• hypoplastic transcending aortic arch

aorta hypoplasia ( J:111824 )

• hypoplastic aorta at E12.5

dilated aorta ( J:111824 )

• dilated aorta at E12.5

abnormal vascular smooth muscle morphology ( J:111824 )

• show a reduction in the arterial smooth muscle

abnormal aorta smooth muscle morphology ( J:111824 )

• at E12.5, mutants show less smooth muscle in the medial layer of the aorta

thin myocardium compact layer ( J:111824 )

• hearts at E13.5 contain only two myocardial cell layers within the compact zone instead of the normal five layers

thin myocardium ( J:111824 )

• myocardial thinning becomes apparent at E12.5

abnormal cardiac outflow tract development ( J:111824 )

• exhibit patterning defects of the outflow tract at E12

persistent truncus arteriosus ( J:111824 )

• seen at E12, resulting from incomplete septation of the conotruncus into the aorta and pulmonary artery

abnormal interventricular septum morphology ( J:111824 )

• exhibit a modest delay in the formation of the ventricular septum beginning at E11.5

ventricular septal defect ( J:111824 )

• show ventricular septal defects that persist until death

hemorrhage ( J:111824 )

• display widespread hemorrhages by E11.5

abnormal fetal cardiomyocyte proliferation ( J:111824 )

• display reduced cardiomyocyte proliferation at E10.5

irregular heartbeat ( J:111824 )

• heartbeat at E11.75 is sluggish and irregular

hematopoietic system

decreased erythrocyte cell number ( J:111824 )

• reduction in the number of mature erythrocytes in peripheral blood

homeostasis/metabolism

edema ( J:111824 )

• display edema at E13.5

liver/biliary system

small liver ( J:111824 )

muscle

abnormal vascular smooth muscle morphology ( J:111824 )

• show a reduction in the arterial smooth muscle

abnormal aorta smooth muscle morphology ( J:111824 )

• at E12.5, mutants show less smooth muscle in the medial layer of the aorta

thin myocardium compact layer ( J:111824 )

• hearts at E13.5 contain only two myocardial cell layers within the compact zone instead of the normal five layers

thin myocardium ( J:111824 )

• myocardial thinning becomes apparent at E12.5

abnormal fetal cardiomyocyte proliferation ( J:111824 )

• display reduced cardiomyocyte proliferation at E10.5

cellular

abnormal fetal cardiomyocyte proliferation ( J:111824 )

• display reduced cardiomyocyte proliferation at E10.5