Phenotypes Associated with This Genotype

Genotype
MGI:5645359

• Allelic Composition: Pigv^b2b2859Clo/Pigv^b2b2859Clo
• Genetic Background: C57BL/6J-Pigv^b2b2859Clo

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

Mutant 2859-002-1 (E15.5) presents with outflow tract misalignment and a hypoplastic transverse aortic arch which is diagnosed as an overriding aorta by episcopic confocal histopathology.

cardiovascular system

right aortic arch ( J:175213 )

vascular ring ( J:175213 )

double outlet right ventricle ( J:175213 )

double outlet right ventricle with atrioventricular septal defect ( J:175213 )

overriding aortic valve ( J:175213 )

ventricular septal defect ( J:175213 )

craniofacial

micrognathia ( J:175213 )

cleft palate ( J:175213 )

skeleton

micrognathia ( J:175213 )

renal/urinary system

kidney cyst ( J:175213 )

• glomerular cysts

hydronephrosis ( J:175213 )

digestive/alimentary system

cleft palate ( J:175213 )

growth/size/body

micrognathia ( J:175213 )

cleft palate ( J:175213 )

kidney cyst ( J:175213 )

• glomerular cysts

decreased body size ( J:175213 )

vision/eye

microphthalmia ( J:175213 )

endocrine/exocrine glands

thymus hypoplasia ( J:175213 )

hematopoietic system

thymus hypoplasia ( J:175213 )

immune system

thymus hypoplasia ( J:175213 )