Phenotypes Associated with This Genotype

Genotype
MGI:5312337

• Allelic Composition: b2b635Clo/b2b635Clo
• Genetic Background: C57BL/6J-b2b635Clo

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

Mutant 635-004-NA exhibits hypoplastic left ventricle and ascending arch hypoplasia, which was diagnosed as HLHS by EFIC imaging

cardiovascular system

abnormal thoracic aorta morphology ( J:242757 )

ascending aorta hypoplasia ( J:175213 )

abnormal heart development ( J:242757 )

• some embryos show hypoplastic left ventricle and only a narrow flow stream from the aorta, while the pulmonary artery shows a robust flow and those with hypoplastic left heart synrome can have at E14.5 hypoplastic aorta, aortic valve atresia, hypertrophied left ventricle with no lumen, mitral valve stenosis and patent foramen ovale

abnormal fetal cardiomyocyte morphology ( J:242757 )

• fetal cardiomyocytes of the left ventricle have short myofilament bundles with increased branching and poorly defined Z bands, and increased phosphorylated histone and TUNEL labeling with decreased Ki67 in the left ventricle and decreased anaphase-telophase in mitotic cardiomyocytes, consistent with cell cycle arrest

abnormal fetal cardiomyocyte mitochondrial morphology ( J:242757 )

• left ventrical cardiomyocyte mitochondria are smaller than normal, have an abnormal shape, and have a low-density matrix with fewer cristae

abnormal heart and great artery attachment ( J:242757 )

• some exhibit double outlet right ventricle either with or without hypoplasia of the aorta or left ventricle

double outlet right ventricle ( J:242757 )

mitral valve stenosis ( J:242757 )

mitral valve hypoplasia ( J:175213 )

• mitral valve hypoplasia

patent cardiac foramen ovale ( J:242757 )

heart left ventricle hypoplasia ( J:175213 , J:242757 )

aortic valve atresia ( J:242757 )

aortic valve hypoplasia ( J:175213 )

• hypoplasia

cellular

abnormal fetal cardiomyocyte mitochondrial morphology ( J:242757 )

• left ventrical cardiomyocyte mitochondria are smaller than normal, have an abnormal shape, and have a low-density matrix with fewer cristae

craniofacial

micrognathia ( J:175213 )

abnormal mouth morphology ( J:175213 )

limbs/digits/tail

kinked tail ( J:175213 )

skeleton

micrognathia ( J:175213 )

growth/size/body

abnormal mouth morphology ( J:175213 )

muscle

abnormal fetal cardiomyocyte mitochondrial morphology ( J:242757 )

• left ventrical cardiomyocyte mitochondria are smaller than normal, have an abnormal shape, and have a low-density matrix with fewer cristae

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hypoplastic left heart syndrome		DOID:9955	OMIM:241550 OMIM:614435	J:175213