Phenotypes Associated with This Genotype

Genotype
MGI:5437117

• Allelic Composition: Megf8^b2b1702.2Clo/Megf8^b2b1702.2Clo
• Genetic Background: C57BL/6J-Megf8^b2b1702.2Clo

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

Mutant 1702-007-1 (E16.5) exhibits dextrocardia and displaced outflow tracts, later diagnosed as Taussig-Bing type double outlet right ventricle (DORV) by ECM histopathology.

cardiovascular system

coronary fistula ( J:175213 )

double outlet right ventricle ( J:175213 )

double outlet right ventricle, Taussig bing type ( J:175213 )

double outlet right ventricle, ventricular defect committed to aorta ( J:175213 )

transposition of great arteries ( J:175213 )

dextrocardia ( J:175213 )

atrioventricular septal defect ( J:175213 )

muscular ventricular septal defect ( J:175213 )

respiratory system

right pulmonary isomerism ( J:175213 )

digestive/alimentary system

cleft palate ( J:175213 )

right-sided stomach ( J:175213 )

growth/size/body

cleft palate ( J:175213 )

short snout ( J:175213 )

omphalocele ( J:175213 )

decreased body size ( J:175213 )

heterotaxia ( J:175213 )

right-sided stomach ( J:175213 )

right pulmonary isomerism ( J:175213 )

craniofacial

micrognathia ( J:175213 )

cleft palate ( J:175213 )

short snout ( J:175213 )

skeleton

micrognathia ( J:175213 )

vision/eye

microphthalmia ( J:175213 )

anophthalmia ( J:175213 )

integument

petechiae ( J:175213 )

hematopoietic system

thymus hypoplasia ( J:175213 )

spleen hypoplasia ( J:175213 )

immune system

thymus hypoplasia ( J:175213 )

spleen hypoplasia ( J:175213 )

endocrine/exocrine glands

thymus hypoplasia ( J:175213 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Carpenter syndrome		DOID:0060234	OMIM:201000 OMIM:614976	J:175213