Phenotypes Associated with This Genotype

Genotype
MGI:5317636

• Allelic Composition: Dnai1^b2b1526Clo/Dnai1^b2b1526Clo
• Genetic Background: C57BL/6J-Dnai1^b2b1526Clo

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

Mutant 1526-007-NA exhibits heterotaxy with dextrocardia, dual IVC, left lung isomerism (2R/2L), stenotic transverse aortic arch, and thickened ventricular walls which is diagnosed as biventricular hypertrophy by EFIC imaging

growth/size/body

short snout ( J:175213 )

heterotaxia ( J:175213 )

abdominal situs ambiguus ( J:175213 )

abdominal situs inversus ( J:175213 )

left pulmonary isomerism ( J:175213 )

• left bronchial isomerism

• left lung isomerism

situs inversus totalis ( J:175213 )

respiratory system

immotile respiratory cilia ( J:175213 )

• immotile tracheal airway cilia

left pulmonary isomerism ( J:175213 )

• left bronchial isomerism

• left lung isomerism

cellular

immotile respiratory cilia ( J:175213 )

• immotile tracheal airway cilia

cardiovascular system

aorta stenosis ( J:175213 )

dual inferior vena cava ( J:175213 )

dextrocardia ( J:175213 )

craniofacial

micrognathia ( J:175213 )

short snout ( J:175213 )

skeleton

micrognathia ( 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 1		DOID:0110594	OMIM:244400	J:175213
visceral heterotaxy		DOID:0050545	OMIM:306955 OMIM:605376 OMIM:606325 OMIM:613751 OMIM:614779 OMIM:PS306955	J:175213