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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Sptbn2Gt(XK442)Byg
gene trap XK442, BayGenomics
MGI:4127354
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Sptbn2Gt(XK442)Byg/Sptbn2Gt(XK442)Byg involves: 129P2/OlaHsd * C57BL/6J MGI:5300032
ht2
Sptbn2Gt(XK442)Byg/Sptbn2+ involves: 129P2/OlaHsd * C57BL/6J MGI:5300033


Genotype
MGI:5300032
hm1
Allelic
Composition
Sptbn2Gt(XK442)Byg/Sptbn2Gt(XK442)Byg
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sptbn2Gt(XK442)Byg mutation (1 available); any Sptbn2 mutation (100 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• by 8 months of age, mice exhibit mild ataxia with gait disturbance and muscle weakness
• beginning at 3 months of age and increasing in frequency most mice develop myoclonic seizures induced by handling or other disturbance
• seizures last 20-50 seconds and are characterized by tonic hindlimb extension, bilateral forelimb clonus, facial movements, chewing, head nodding, body jerks, tail curling, and running or bouncing

growth/size/body
• males have a slightly heavier average body weight as compared to controls

nervous system
• beginning at 3 months of age and increasing in frequency most mice develop myoclonic seizures induced by handling or other disturbance
• seizures last 20-50 seconds and are characterized by tonic hindlimb extension, bilateral forelimb clonus, facial movements, chewing, head nodding, body jerks, tail curling, and running or bouncing
• Purkinje cells are shrunken and dark with cytoplasmic vacuoles, however, density is similar to wild type littermates
• Purkinje cell soma contains expanded membrane compartments and swollen Golgi complexes
• Purkinje cell apical dendrites are thickened
• dendrites and postsynaptic bulbs contain densely packed and dilated endoplasmic reticulum
• postsynaptic density in the molecular layer is reduced by 50%
• molecular layer of cerebellum is 15-20% thinner

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
spinocerebellar ataxia type 5 DOID:0050882 OMIM:600224
J:158494




Genotype
MGI:5300033
ht2
Allelic
Composition
Sptbn2Gt(XK442)Byg/Sptbn2+
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sptbn2Gt(XK442)Byg mutation (1 available); any Sptbn2 mutation (100 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• slight motor impairment is observed in the hanging wire test





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory