Phenotypes Associated with This Genotype

Genotype
MGI:5313814

• Allelic Composition: Daw1^b2b1116Clo/Daw1^b2b1116Clo
• Genetic Background: C57BL/6J-Daw1^b2b1116Clo

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

Mutant 1116-027-NA presents with dextrocardia and inverted, parallel outflow which is diagnosed as overriding aorta by EFIC imaging

growth/size/body

heterotaxia ( J:175213 )

right-sided stomach ( J:175213 )

abdominal situs ambiguus ( J:175213 )

left pulmonary isomerism ( J:175213 )

situs inversus totalis ( J:175213 )

respiratory system

abnormal respiratory motile cilium physiology ( J:175213 )

• dyskinetic/immotile tracheal airway cilia

immotile respiratory cilia ( J:175213 )

left pulmonary isomerism ( J:175213 )

cellular

abnormal respiratory motile cilium physiology ( J:175213 )

• dyskinetic/immotile tracheal airway cilia

immotile respiratory cilia ( J:175213 )

cardiovascular system

dual inferior vena cava ( J:175213 )

overriding aortic valve ( J:175213 )

dextrocardia ( J:175213 )

ventricular septal defect ( J:175213 )

perimembraneous ventricular septal defect ( J:175213 )

digestive/alimentary system

right-sided stomach ( J:175213 )

hematopoietic system

spleen hypoplasia ( J:175213 )

immune system

spleen hypoplasia ( 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