Phenotypes Associated with This Genotype

Genotype
MGI:5648030

• Allelic Composition: b2b3077.2Clo/b2b3077.2Clo
• Genetic Background: C57BL/6J-b2b3077.2Clo

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

Mutant 3077-006-4 (E15.5) exhibits aortic atresia with accessory anterior lung lobes, hypoplastic left atrium, and thickened left ventricle wall. This is diagnosed as aortic atresia, left venricle hypertrophy, and hypoplastic left heart syndrome (HLHS) spectrum heart by ECM histopathology.

respiratory system

pulmonary hypoplasia ( J:175213 )

digestive/alimentary system

cleft palate ( J:175213 )

abnormal intestine morphology ( J:175213 )

endocrine/exocrine glands

thymus hypoplasia ( J:175213 )

cardiovascular system

abnormal mitral valve morphology ( J:175213 )

heart left ventricle hypoplasia ( J:175213 )

aortic valve atresia ( J:175213 )

hematopoietic system

thymus hypoplasia ( J:175213 )

growth/size/body

cleft upper lip ( J:175213 )

cleft palate ( J:175213 )

short snout ( J:175213 )

abnormal thoracic cavity morphology ( J:175213 )

immune system

thymus hypoplasia ( J:175213 )

renal/urinary system

abnormal kidney morphology ( J:175213 )

limbs/digits/tail

abnormal limb morphology ( J:175213 )

abnormal autopod morphology ( J:175213 )

syndactyly ( J:175213 )

abnormal tail morphology ( J:175213 )

craniofacial

micrognathia ( J:175213 )

cleft upper lip ( J:175213 )

cleft palate ( J:175213 )

short snout ( J:175213 )

skeleton

micrognathia ( 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