Phenotypes Associated with This Genotype

Genotype
MGI:6316069

• Allelic Composition: Ankfy1^{Gt(RRE069)Byg}/Ankfy1⁺
• Genetic Background: B6.129P2-Ankfy1^{Gt(RRE069)Byg}

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

behavior/neurological

abnormal motor capabilities/coordination/movement ( J:250135 )

• mice exhibit progressive motor deficits

limb grasping ( J:250135 )

• paw clasping is first seen at about 12 weeks of age

tremors ( J:250135 )

ataxia ( J:250135 )

• gait differences are first seen at P20

• mice exhibit a motor weakness, drag their hindlegs and have a smaller stride length

• foot dragging is already present at 8 weeks of age, progresses with age and becomes increasingly more severe

• mice exhibit an increase in front/hind footprint overlap

impaired coordination ( J:250135 )

• 8 week old mice perform worse on the rotating rod than controls

short stride length ( J:250135 )

hindlimb paralysis ( J:250135 )

• spastic hind paw paralysis occurs in 24 week old mice

spasticity ( J:250135 )

• mice exhibit spastic paralysis

cellular

increased brain apoptosis ( J:250135 )

• mice exhibit higher levels of apoptosis in the cerebellum and of Purkinje cells

growth/size/body

decreased body weight ( J:250135 )

• mice show decreased body weight after 4 weeks of age

nervous system

increased brain apoptosis ( J:250135 )

• mice exhibit higher levels of apoptosis in the cerebellum and of Purkinje cells

decreased brain size ( J:250135 )

• the brain, especially the cerebellum, is smaller

Purkinje cell degeneration ( J:250135 )

• Purkinje cell loss is seen at P60, with severe degeneration at 6 months of age, however the thickness of the molecular layer is not changed

• 6 month old mice exhibit severe DNA breaks in Purkinje cells, indicating apoptosis

• however, myelin sheaths in the corpus callosum, cerebellum and pons are normal

abnormal Purkinje cell dendrite morphology ( J:250135 )

• Purkinje cells grown in culture have fewer intermediate or terminal dendritic branches than wild-type cells, abundant distal spiny branchlets that emerge from the terminal dendritic branches, an increase in the number of axonal circular expansions, and a decrease in the total length and number of dendrites

• Purkinje cells have fewer intermediate and terminal collaterals but longer terminal branches

small cerebellum ( J:250135 )

gliosis ( J:250135 )

• 24 week old mice show increased numbers of astrocytes in areas such as the vestibular nuclei, substantia nigra and cerebellum

skeleton

kyphosis ( J:250135 )

• kyphosis is first seen at about 12 weeks of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Charlevoix-Saguenay spastic ataxia		DOID:0050946	OMIM:270550	J:250135