Phenotypes Associated with This Genotype

Genotype
MGI:5312338

• Allelic Composition: Odad2^b2b643Clo/Odad2^b2b643Clo
• Genetic Background: C57BL/6J-Odad2^b2b643Clo

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

Mutant 643-004-ND exhibits heterotaxy with left lung isomerism, right aortic arch, and parallel outflow tracts which EFIC imaging determined to be DORV

cardiovascular system

right aortic arch ( J:175213 , J:206685 )

dual inferior vena cava ( J:206685 )

double outlet right ventricle, ventricular defect committed to aorta ( J:175213 )

dextrocardia ( J:206685 )

• mirror image dextocardia

abnormal heart ventricle morphology ( J:206685 )

• ventricular noncompaction

perimembraneous ventricular septal defect ( J:175213 , J:206685 )

muscular ventricular septal defect ( J:206685 )

abnormal blood vessel physiology ( J:206685 )

• anomalous venous return

growth/size/body

heterotaxia ( J:175213 )

abdominal situs ambiguus ( J:175213 , J:206685 )

• about half of mutants with abnormal organ laterality have heterotaxy (J:206685)

situs inversus totalis ( J:175213 , J:206685 )

• about half of mutants with abnormal organ laterality have situs inversus (J:206685)

respiratory system

abnormal respiratory motile cilium morphology ( J:206685 )

• tracheal airway cilia exhibit a reduction in outer dynein arms resulting from a defect of outer dynein arm assembly in the distal ciliary axonemes

abnormal respiratory motile cilium physiology ( J:175213 , J:206685 )

• dyskinetic, slow or immotile airway cilia (J:175213)

immotile respiratory cilia ( J:206685 )

nervous system

hydrocephaly ( J:206685 )

• mutants develop hydrocephalus at 3-4 weeks of age, but not during the first week of life

mortality/aging

premature death ( J:206685 )

• mutants succumb prior to reaching reproductive age

cellular

abnormal respiratory motile cilium morphology ( J:206685 )

• tracheal airway cilia exhibit a reduction in outer dynein arms resulting from a defect of outer dynein arm assembly in the distal ciliary axonemes

abnormal respiratory motile cilium physiology ( J:175213 , J:206685 )

• dyskinetic, slow or immotile airway cilia (J:175213)

immotile respiratory cilia ( J:206685 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Kartagener syndrome		DOID:0050144		J:175213
primary ciliary dyskinesia 23		DOID:0110609	OMIM:615451	J:175213 , J:206684
visceral heterotaxy		DOID:0050545	OMIM:306955 OMIM:605376 OMIM:606325 OMIM:613751 OMIM:614779 OMIM:PS306955	J:175213