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Phenotypes Associated with This Genotype
Genotype
MGI:5550148
Allelic
Composition
Stub1tm1Cpat/Stub1tm1Cpat
Genetic
Background
involves: 129S/SvEv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Stub1tm1Cpat mutation (2 available); any Stub1 mutation (21 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• mutants exhibit an aberrant pattern of exploration in a novel environment, showing increased time in the open arms of the elevated plus maze
• mutants exhibit a higher error rate in the acquisition of a spatial learning task in the Barnes maze
• magnitude of the acoustic startle response is reduced 86% in mutants compared to wild-type mice and the reaction time to the acoustic startle is delayed across all sound levels by an average of 40%
• however, prepulse inhibition levels are not affected, suggesting that sensory gating and auditory function are not impaired
• cerebellar ataxia
• mice show a severe motor impairment on the rotarod, with reduced latency to fall times and no improvement with retesting
• mutants take smaller steps in gait testing, showing an 8-16% reduction in stride length, however show no differences in overlap, front paw stride length or front paw and hind paw base width

endocrine/exocrine glands
• 38% decrease in testes weight

homeostasis/metabolism
• follicle stimulating hormone levels are reduced more than 50% compared to wild-type mice, irrespective of sex

nervous system
• cellular loss throughout the various lobes of the cerebellum, with especially noticeable degeneration in the Purkinje cell layer
• cerebellar regions that do contain intact Purkinje cells exhibit severe dendritic swelling
• 3-fold increase in the number of pyknotic nuclei in the Purkinje cell layer compared to wild-type
• cerebellar regions that do contain intact Purkinje cells exhibit severe dendritic swelling

reproductive system
• 38% decrease in testes weight
• breeding pairs are unable to successfully mate


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
01/06/2026
MGI 6.24
The Jackson Laboratory