Phenotypes Associated with This Genotype

Genotype
MGI:5512772

• Allelic Composition: Ywhae^tm1Awb/Ywhae^tm1Awb
• Genetic Background: involves: 129S6/SvEvTac

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

mortality/aging

perinatal lethality, complete penetrance ( J:192860 )

• die within 6 to 9 hours of birth

homeostasis/metabolism

cyanosis ( J:192860 )

• newborns exhibit cyanosis

cardiovascular system

abnormal heart morphology ( J:192860 )

• increase in heart cavity diameter

abnormal myocardial trabeculae morphology ( J:192860 )

• hearts display deep intertrabecular recesses

thin myocardium compact layer ( J:192860 )

• thinner compact myocardium at E12.5, with few cell layers forming the ventricular wall

abnormal heart ventricle morphology ( J:192860 )

• thinner ventricles at E12.5

thin ventricle myocardium compact layer ( J:192860 )

• E12.5 mutants exhibit a reduction in ventricular compact myocardium thickness indicating ventricular non-compaction

ventricular septal defect ( J:192860 )

• 60% of mutants exhibit ventricular septal defects at E18.5

thin ventricular wall ( J:192860 )

• thin biventricular walls at E18.5

dilated heart ventricle ( J:192860 )

• biventricular dilatation in E18.5 hearts

abnormal fetal cardiomyocyte physiology ( J:192860 )

• embryonic cardiomyocytes display cell cycle defects characterized by a reduced number in G2/M and an accumulation in the G0/G1 phase

decreased fetal cardiomyocyte proliferation ( J:192860 )

• proliferation is decreased in E12.5 hearts and the mitotic index is 47% lower in whole hearts

• mitotic index is lower in the ventricles but not in the septum

• proliferation in the compact zone of the left ventricle is decreased

cellular

decreased fetal cardiomyocyte proliferation ( J:192860 )

• mitotic index is lower in the ventricles but not in the septum

• proliferation in the compact zone of the left ventricle is decreased

• proliferation is decreased in E12.5 hearts and the mitotic index is 47% lower in whole hearts

abnormal cell cycle ( J:192860 )

• embryonic cardiomyocytes display cell cycle defects characterized by a reduced number in G2/M and an accumulation in the G0/G1 phase

decreased mitotic index ( J:192860 )

• mitotic index in whole hearts is 47% lower than in controls and is also lower in the ventricles but not in the septum

muscle

abnormal myocardial trabeculae morphology ( J:192860 )

• hearts display deep intertrabecular recesses

thin myocardium compact layer ( J:192860 )

• thinner compact myocardium at E12.5, with few cell layers forming the ventricular wall

thin ventricle myocardium compact layer ( J:192860 )

• E12.5 mutants exhibit a reduction in ventricular compact myocardium thickness indicating ventricular non-compaction

decreased fetal cardiomyocyte proliferation ( J:192860 )

• proliferation is decreased in E12.5 hearts and the mitotic index is 47% lower in whole hearts

• mitotic index is lower in the ventricles but not in the septum

• proliferation in the compact zone of the left ventricle is decreased

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
left ventricular noncompaction		DOID:0060480	OMIM:604169	J:192860