Phenotypes Associated with This Genotype

Genotype
MGI:5009333

• Allelic Composition: Clec16a^curt/Clec16a^curt
• Genetic Background: SWR/J-Clec16a^curt/GrsrJ

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

limbs/digits/tail

abnormal digit morphology ( J:172931 )

• the digits are crooked and curve away from the body

wavy tail ( J:172931 )

• tail curves in an S shape

nervous system

Purkinje cell degeneration ( J:251104 )

• evident by 8 weeks of age, with basket cell processes in areas of Purkinje cell loss and an increase in the autophagy substrate p62

growth/size/body

decreased body size ( J:172931 )

decreased body weight ( J:172931 )

• homozygotes are approximately 50% the weight of wild type siblings at 4 weeks of age

vision/eye

narrow eye opening ( J:172931 )

• eyes are described as squinting

mortality/aging

premature death ( J:172931 )

• most homozygotes die by 3 months of age

preweaning lethality, incomplete penetrance ( J:172931 )

• only approximately 17% of pups are homozygous, instead of the expected 25%, at wean age from heterozygous intercrosses, with nearly 4% stillborn

perinatal lethality, incomplete penetrance ( J:172931 )

hearing/vestibular/ear

increased or absent threshold for auditory brainstem response ( J:172931 )

• two 7-week-old females tested by ABR were found to have severe hearing loss

impaired hearing ( J:172931 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
neurodegenerative disease		DOID:1289		J:251104