Phenotypes Associated with This Genotype

Genotype
MGI:5648026

• Allelic Composition: b2b3077Clo/b2b3077Clo
• Genetic Background: C57BL/6J-b2b3077Clo

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

Mutant 3077-006-2 (E15.5) exhibits parallel outflow tracts, pulmonary stenosis, and small left atrium later diagnosed as double outlet right ventricle (DORV), hypoplastic pulmonary artery, and hypoplastic left atrium by ECM histopathology.

respiratory system

pulmonary hypoplasia ( J:175213 )

digestive/alimentary system

cleft palate ( J:175213 )

abnormal intestine morphology ( J:175213 )

• short gut

endocrine/exocrine glands

thymus hypoplasia ( J:175213 )

cardiovascular system

pulmonary artery hypoplasia ( J:175213 )

persistent truncus arteriosus ( J:175213 )

double outlet right ventricle ( J:175213 )

abnormal mitral valve morphology ( J:175213 )

atrioventricular septal defect ( J:175213 )

heart left ventricle hypoplasia ( J:175213 )

aortic valve atresia ( J:175213 )

hematopoietic system

thymus hypoplasia ( J:175213 )

growth/size/body

micrognathia ( J:175213 )

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 )

• club limbs

abnormal autopod morphology ( J:175213 )

syndactyly ( J:175213 )

abnormal tail morphology ( J:175213 )

• bobtail

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
Robinow syndrome		DOID:0060254	OMIM:PS268310	J:175213