Phenotypes Associated with This Genotype

Genotype
MGI:3581212

• Allelic Composition: Atp8a2^wl-vmd/Atp8a2^wl-vmd
• Genetic Background: C3H/HeSnJ-Atp8a2^wl-vmd/J

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

vision/eye

short photoreceptor outer segment ( J:253580 )

• shorter M-opsin positive OS

short retina cone cell outer segment ( J:253580 )

• shorter M-opsin positive OS

mortality/aging

premature death ( J:11718 )

• few survive longer than 30 days of age, presumably due to starvation as homozygotes are unable to feed themselves

growth/size/body

decreased body size ( J:11718 )

• smaller size is identifiable at 20 days of age

cachexia ( J:11718 )

• seen by 20 days of age

nervous system

motor neuron degeneration ( J:11718 )

• vestibulo-motor degeneration

short photoreceptor outer segment ( J:253580 )

• shorter M-opsin positive OS

short retina cone cell outer segment ( J:253580 )

• shorter M-opsin positive OS

chromatolysis ( J:11718 )

• neurons in both the vestibular ganglion and nucleus have central chromatolysis

axonal dystrophy ( J:11718 )

• dystrophic axons are concentrated in the ventral funiculus of the cervical segments of the spinal cord and are particularly numerous in ventro-medial aspects of the medulla dorsal to the pyramids and ventral to the medial lemniscus in the area of the vestibulospinal tract

• axons in the vestibular spinal tract and some axons projecting from the vestibular ganglion to the lateral vestibular nucleus are dystrophic

behavior/neurological

abnormal eating behavior ( J:11718 )

• unable to feed themselves leading to starvation

abnormal startle reflex ( J:11718 )

• when startled, jump sideways with legs splay out from the body

limb grasping ( J:11718 )

• when picked up by tail, clasp hind legs and the entire body shakes violently

tremors ( J:11718 )

• exhibit a generalized tremor

hunched posture ( J:11718 )

• tend to sit hunched over with rear feet and legs tucked in towards the body

integument

disheveled coat ( J:11718 )

• ungroomed hair coat

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cerebellar ataxia, mental retardation and dysequlibrium syndrome		DOID:0050997	OMIM:224050 OMIM:610185 OMIM:613227 OMIM:615268	J:222308