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Phenotypes Associated with This Genotype
Genotype
MGI:4821985
Allelic
Composition
Sptbn2tm1Mjac/Sptbn2tm1Mjac
Genetic
Background
B6.129P2-Sptbn2tm1Mjac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sptbn2tm1Mjac mutation (0 available); any Sptbn2 mutation (56 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• resembling a mild form of ataxia
• in mouse older than 6 month
• progressive loss of coordination on rotarod test
• no difference in hanging wire test suggesting no muscle weakness
• hind limb gait became progressively wider

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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
12/05/2017
MGI 6.11
The Jackson Laboratory