Phenotypes Associated with This Genotype

Genotype
MGI:5430345

• Allelic Composition: Pcsk5^b2b1549Clo/Pcsk5^b2b1549Clo
• Genetic Background: C57BL/6J-Pcsk5^b2b1549Clo

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

Mutant 1549-002-NB displays TGA (confirmed by EFIC), dual IVC and abnormal lung lobation

cardiovascular system

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

d-loop transposition of the great arteries ( J:175213 )

dextrocardia ( J:175213 )

mesocardia ( J:175213 )

complete atrioventricular septal defect ( J:175213 )

growth/size/body

heterotaxia ( J:175213 )

respiratory system

abnormal respiratory motile cilium physiology ( J:175213 )

immotile respiratory cilia ( J:175213 )

cellular

abnormal respiratory motile cilium physiology ( J:175213 )

immotile respiratory cilia ( J:175213 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
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