Phenotypes Associated with This Genotype

Genotype
MGI:5285345

• Allelic Composition: Dnai1^b2b284Clo/Dnai1^b2b284Clo
• Genetic Background: C57BL/6J-Dnai1^b2b284Clo

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

Dextrocardia with parallel outflow tracts suggestive of DORV (confirmed by EFIC imaging).

cardiovascular system

abnormal cardiovascular system morphology ( J:216862 )

• a spectrum of complex congenital heart disease is seen in conjunction with heterotaxy

abnormal aortic arch morphology ( J:216862 )

• hypoplastic transverse arch

double outlet right ventricle ( J:175213 , J:216862 )

dextrocardia ( J:175213 )

atrioventricular septal defect ( J:175213 )

ventricular septal defect ( J:216862 )

• multiple ventricular septal defects

growth/size/body

heterotaxia ( J:175213 , J:216862 )

• heterotaxy where the left-right positioning of organs may be randomized (J:216862)

abdominal situs ambiguus ( J:175213 )

bronchial situs inversus ( J:175213 )

situs inversus totalis ( J:175213 , J:216862 )

respiratory system

abnormal respiratory motile cilium morphology ( J:216862 )

• airway cilia are missing the outer dynein arms

bronchial situs inversus ( J:175213 )

cellular

abnormal motile cilium morphology ( J:216862 )

• cilia in tracheal epithelia show missing out dynein arm defect

abnormal respiratory motile cilium morphology ( J:216862 )

• airway cilia are missing the outer dynein arms

abnormal motile cilium physiology ( J:216862 )

• mice exhibit immotile/slow/dyskinetic cilia with little or no net fluid flow

mortality/aging

postnatal lethality ( J:216862 )

• mice that survive postnatally usually die from hydrocephalus by 5-10 days after birth

nervous system

hydrocephaly ( J:216862 )

• mice that survive postnatally usually die from hydrocephalus by 5-10 days after birth

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
primary ciliary dyskinesia 1		DOID:0110594	OMIM:244400	J:175213