Phenotypes Associated with This Genotype

Genotype
MGI:5313813

• Allelic Composition: Pcsk5^b2b585Clo/Pcsk5^b2b585Clo
• Genetic Background: C57BL/6J-Pcsk5^b2b585Clo

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

Mutant line 585 reveals mesocardia or dextrocardia with double aortic arch (AA).

cardiovascular system

double aortic arch ( J:175213 )

persistent truncus arteriosus ( J:175213 )

double outlet right ventricle ( J:175213 )

dextrocardia ( J:175213 )

mesocardia ( J:175213 )

digestive/alimentary system

anal atresia ( J:175213 )

tracheoesophageal fistula ( J:175213 )

limbs/digits/tail

abnormal limb morphology ( J:175213 )

polydactyly ( J:175213 )

syndactyly ( J:175213 )

absent tail ( J:175213 )

renal/urinary system

absent kidney ( J:175213 )

• agenesis of kidneys

respiratory system

tracheoesophageal fistula ( J:175213 )

skeleton

increased rib number ( J:175213 )

• supernumerary ribs

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
VACTERL association		DOID:14679	OMIM:192350 OMIM:276950	J:175213