Phenotypes Associated with This Genotype

Genotype
MGI:5437104

• Allelic Composition: b2b1200Clo/b2b1200Clo
• Genetic Background: C57BL/6J-b2b1200Clo

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

Mutant 1200-003-NA shows dextroversion {S,D,S} with vascular ring

cardiovascular system

aortic arch hypoplasia ( J:175213 )

vascular ring ( J:175213 )

heart left ventricle hypertrophy ( J:175213 )

heart right ventricle hypertrophy ( J:175213 )

double outlet right ventricle ( J:175213 )

perimembraneous ventricular septal defect ( J:175213 )

muscular ventricular septal defect ( J:175213 )

heart right ventricle hypoplasia ( J:175213 )

renal/urinary system

kidney cyst ( J:175213 )

polycystic kidney ( J:175213 )

hydronephrosis ( J:175213 )

duplex kidney ( J:175213 )

growth/size/body

heart left ventricle hypertrophy ( J:175213 )

heart right ventricle hypertrophy ( J:175213 )

kidney cyst ( J:175213 )

polycystic kidney ( J:175213 )

heterotaxia ( J:175213 )

muscle

heart left ventricle hypertrophy ( J:175213 )

heart right ventricle hypertrophy ( J:175213 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cystic kidney disease		DOID:2975		J:175213
Kartagener syndrome		DOID:0050144		J:175213
primary ciliary dyskinesia		DOID:9562	OMIM:PS244400	J:175213
visceral heterotaxy		DOID:0050545	OMIM:306955 OMIM:605376 OMIM:606325 OMIM:613751 OMIM:614779 OMIM:PS306955	J:175213