Phenotypes Associated with This Genotype

Genotype
MGI:5311117

• Allelic Composition: b2b464Clo/b2b464Clo
• Genetic Background: C57BL/6J-b2b464Clo

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

Mutant 464-003-NA presents with hypoplastic left ventricle, and hypoplastic aorta as confirmed by EFIC imaging.

cardiovascular system

aortic arch hypoplasia ( J:175213 )

aorta hypoplasia ( J:175213 , J:242757 )

double outlet right ventricle ( J:242757 )

• in a subset of these mice, and some additionally have hypoplasia of the aorta and left ventricle while others have a normal aorta

mitral valve stenosis ( J:242757 )

mitral valve hypoplasia ( J:175213 )

• mitral valve hypoplasia

atrial septal defect ( J:175213 )

aortic valve hypoplasia ( J:175213 )

decreased heart left ventricle size ( J:242757 )

• small, muscle-bound left ventricle has little to no lumen

heart left ventricle hypoplasia ( J:175213 )

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