Phenotypes Associated with This Genotype

Genotype
MGI:5437115

• Allelic Composition: Cep290^b2b1454Clo/Cep290^b2b1454Clo
• Genetic Background: C57BL/6J-Cep290^b2b1454Clo

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

Mutant 1754-003-NA displays malpositioning of the IVC, aortic arch hypoplasia and malpositiong of the OFT confirmed to be DORV by EFIC imaging

cardiovascular system

abnormal inferior vena cava morphology ( J:175213 )

dual inferior vena cava ( J:175213 )

double outlet right ventricle ( J:175213 )

atrioventricular septal defect ( J:175213 )

inlet ventricular septal defect ( J:175213 )

craniofacial

micrognathia ( J:175213 )

growth/size/body

micrognathia ( J:175213 )

kidney cyst ( J:175213 )

• tubular and glomerular cysts

polycystic kidney ( J:175213 )

renal glomerulus cyst ( J:175213 )

heterotaxia ( J:175213 )

left-sided isomerism ( J:175213 )

hematopoietic system

spleen hypoplasia ( J:175213 )

accessory spleen ( J:175213 )

immune system

spleen hypoplasia ( J:175213 )

accessory spleen ( J:175213 )

renal/urinary system

kidney cyst ( J:175213 )

• tubular and glomerular cysts

polycystic kidney ( J:175213 )

renal glomerulus cyst ( J:175213 )

skeleton

micrognathia ( 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:PS306955	J:175213