Phenotypes Associated with This Genotype

Genotype
MGI:4821985

• Allelic Composition: Sptbn2^tm1Mjac/Sptbn2^tm1Mjac
• Genetic Background: B6.129P2-Sptbn2^tm1Mjac

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

behavior/neurological

tremors ( J:159622 )

ataxia ( J:159622 )

• resembling a mild form of ataxia

impaired balance ( J:159622 )

• in mouse older than 6 month

impaired coordination ( J:159622 )

• progressive loss of coordination on rotarod test

• no difference in hanging wire test suggesting no muscle weakness

abnormal gait ( J:159622 )

• hind limb gait became progressively wider

nervous system

Purkinje cell degeneration ( J:159622 )

• a thinning of the molecular layer and a progressive loss of Purkinje cells at 6 months

abnormal nervous system electrophysiology ( J:159622 )

• reduced Purkinje cell simple spike firing rate in older mice

• the firing rate of complex spikes are normal

• reduced spontaneous firing activity of Purkinje cells in vitro

• whole-cell sodium currents of Purkinje cells in vitro were significantly smaller

increased excitatory postsynaptic current amplitude ( J:159622 )

• parallel fiber excitatory postsynaptic current (PF-EPSC) amplitudes, at various stimuli, were considerably larger in 6-week-old mutant mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
spinocerebellar ataxia type 5		DOID:0050882	OMIM:600224	J:159622