Phenotypes Associated with This Genotype

Genotype
MGI:5467392

• Allelic Composition: b2b1963Clo/b2b1963Clo
• Genetic Background: C57BL/6J-b2b1963Clo

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

Mutant 1963-002-3 (E16.5) exhibits a hypoplastic transverse arch and hypoplastic LV.

cardiovascular system

aortic arch hypoplasia ( J:175213 , J:242757 )

double outlet right ventricle ( 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 )

craniofacial

micrognathia ( J:175213 )

cleft palate ( J:175213 )

digestive/alimentary system

cleft palate ( J:175213 )

vision/eye

microphthalmia ( J:175213 )

anophthalmia ( J:175213 )

growth/size/body

cleft palate ( J:175213 )

skeleton

micrognathia ( J:175213 )

nervous system

exencephaly ( 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