Phenotypes Associated with This Genotype

Genotype
MGI:5433489

• Allelic Composition: Tmem67^b2b1163.1Clo/Tmem67^b2b1163.1Clo
• Genetic Background: C57BL/6J-Tmem67^b2b1163.1Clo

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

Mutant 1163-006-NA displays malpositioned heart with interrupted aorta and DORV (confirmed by EFIC imaging)

cardiovascular system

interrupted aortic arch ( J:175213 )

double outlet right ventricle ( J:175213 )

atrioventricular septal defect ( J:175213 )

heart right ventricle hypoplasia ( J:175213 )

growth/size/body

polycystic kidney ( J:175213 )

heterotaxia ( J:175213 )

renal/urinary system

polycystic kidney ( J:175213 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cystic kidney disease		DOID:2975		J:175213
visceral heterotaxy		DOID:0050545	OMIM:306955 OMIM:605376 OMIM:606325 OMIM:613751 OMIM:614779 OMIM:PS306955	J:175213