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| Nomenclature |
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Symbol:
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Sptbn2tm1Mjac
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Name:
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spectrin beta, non-erythrocytic 2;
targeted mutation 1, Mandy Jackson
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MGI ID: |
MGI:4821979 |
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Synonyms: |
beta-III- |
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Gene:
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Sptbn2
Location:
Chr19:4711223-4752352 bp, + strand
Genetic Position: Chr19,
4.1 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:159622
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Parent Cell Line:
| E14TG2a (ES Cell) |
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Strain of Origin:
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129P2/OlaHsd
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: The exons 3-6 were replaced with PGK-neo cassette by targeted recombination. The resulting allele, when exon 2 is spliced onto exon 7, disrupt the open reading frame, introducing a premature stop codon at the beginning of exon 7. Western blot analysis using a C-terminal specific antibody onto whole cerebellar homogenates confirmed absence of full-length protein. However, a low level of a form of gene product with a reduced function resulting from exon1 spliced onto exon 7 that lacks most of the actin-binding domain encoded by exons 2-6 was expressed. This is a hypomorphic allele.
(J:159622)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Sptbn2 Mutation:
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5 strains or lines available |
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| References |
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Original: |
J:159622
Perkins EM et al.,
"Loss of beta-III spectrin leads to Purkinje cell dysfunction recapitulating the behavior and neuropathology of spinocerebellar ataxia type 5 in humans."
J Neurosci 2010 Apr 7;30(14):4857-67
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All: |
4 reference(s)
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Analysis Tools
