Phenotypes Associated with This Genotype

Genotype
MGI:5526986

• Allelic Composition: Dnaaf2^tm1.1Mkis/Dnaaf2^tm1.1Mkis
• Genetic Background: involves: C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:201474 )

• some mice die 1 to 2 days after birth

• most mice die before weaning

growth/size/body

decreased body size ( J:201474 )

postnatal growth retardation ( J:201474 )

heterotaxia ( J:201474 )

• 17 of 43 mice exhibit translocation of the heart and abdominal organs (stomach and spleen)

right-sided stomach ( J:201474 )

• in 17 of 43 mice

abdominal situs inversus ( J:201474 )

• of the stomach and spleen in 17 of 43 mice

situs inversus totalis ( J:201474 )

• in 17 of 43 mice

nervous system

abnormal brain ependyma motile cilium morphology ( J:201474 )

• marker expression confirmed defects in incorporation of axonemal dynein components to cilia in brain ependymal cells

• brain ependymal cell cilia lack outer and inner dynein arms attached to the doublet of microtubules unlike in wild-type cells

abnormal brain ependyma motile cilium location or orientation ( J:201474 )

• basal feet polarity is randomized

abnormal brain ependyma motile cilium physiology ( J:201474 )

• lack motility

hydrocephaly ( J:201474 )

• beginning after birth

enlarged brain ventricles ( J:201474 )

• fluid-filled at P14

enlarged lateral ventricles ( J:201474 )

• at P0.5

thin cerebral cortex ( J:201474 )

respiratory system

immotile respiratory cilia ( J:201474 )

• trachea epithelial cells lack motility

abnormal tracheal ciliated epithelium morphology ( J:201474 )

• marker expression confirmed defects in incorporation of axonemal dynein components to cilia in tracheal epithelial cells

• tracheal epithelial cell cilia lack outer and inner dynein arms attached to the doublet of microtubules unlike in wild-type cells

• however, basal feet polarity is normal

cardiovascular system

dextrocardia ( J:201474 )

• in 17 of 43 mice

digestive/alimentary system

right-sided stomach ( J:201474 )

• in 17 of 43 mice

cellular

abnormal brain ependyma motile cilium morphology ( J:201474 )

• marker expression confirmed defects in incorporation of axonemal dynein components to cilia in brain ependymal cells

• brain ependymal cell cilia lack outer and inner dynein arms attached to the doublet of microtubules unlike in wild-type cells

abnormal brain ependyma motile cilium location or orientation ( J:201474 )

• basal feet polarity is randomized

abnormal brain ependyma motile cilium physiology ( J:201474 )

• lack motility

immotile respiratory cilia ( J:201474 )

• trachea epithelial cells lack motility

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
primary ciliary dyskinesia 10		DOID:0110612	OMIM:612518	J:201474