Phenotypes Associated with This Genotype

Genotype
MGI:5433329

• Allelic Composition: Ap1b1^b2b1660Clo/Ap1b1^b2b1660Clo
• Genetic Background: C57BL/6J-Ap1b1^b2b1660Clo

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

Mutant 11660-002-LA exhibits dextrocardia with situs inversus and possible bile duct obstruction

cardiovascular system

abnormal inferior vena cava morphology ( J:175213 )

growth/size/body

heterotaxia ( J:175213 )

left pulmonary isomerism ( J:175213 )

situs inversus totalis ( J:175213 )

hematopoietic system

spleen hypoplasia ( J:175213 )

absent spleen ( J:175213 )

immune system

spleen hypoplasia ( J:175213 )

absent spleen ( J:175213 )

respiratory system

abnormal respiratory motile cilium physiology ( J:175213 )

• dyskinetic/immotile respiratory cilia

immotile respiratory cilia ( J:175213 )

left pulmonary isomerism ( J:175213 )

skeleton

abnormal thoracic cage morphology ( J:175213 )

• malaligned sternovertebrae

cellular

abnormal respiratory motile cilium physiology ( J:175213 )

• dyskinetic/immotile respiratory cilia

immotile respiratory cilia ( J:175213 )

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