Phenotypes associated with this allele

• Allele Symbol: Sptbn2^tm1Mjac
• Allele Name: targeted mutation 1, Mandy Jackson
• Allele ID: MGI:4821979
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Sptbn2^tm1Mjac/Sptbn2^tm1Mjac	B6.129P2-Sptbn2^tm1Mjac	MGI:4821985
ht2	Sptbn2^tm1Mjac/Sptbn2^+	involves: 129P2/OlaHsd	MGI:5426692

Genotype
MGI:4821985

hm1

• 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

Genotype
MGI:5426692

ht2

• Allelic Composition: Sptbn2^tm1Mjac/Sptbn2⁺
• Genetic Background: involves: 129P2/OlaHsd

behavior/neurological

behavior/neurological phenotype ( J:163169 )

N • heterozygotes do not show signs of ataxia, with no differences in base width or stride lengths and in motor performance on a stationary rod, elevated beam or a rotating rod task

nervous system

nervous system phenotype ( J:163169 )

N • heterozygotes exhibit a normal cerebellum at 2 years of age and do not show signs of cerebellar degeneration or changes in Purkinje cell morphology

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	spinocerebellar ataxia type 5	DOID:0050882	OMIM:600224	J:163169