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Targeted Allele Detail
Symbol: Sptbn2tm1Mjac
Name: spectrin beta, non-erythrocytic 2; targeted mutation 1, Mandy Jackson
MGI ID: MGI:4821979
Synonyms: beta-III-
Gene: Sptbn2  Location: Chr19:4711223-4752360 bp, + strand  Genetic Position: Chr19, 4.1 cM
Germline Transmission:  Earliest citation of germline transmission: J:159622
Parent Cell Line:  E14TG2a (ES Cell)
Strain of Origin:  129P2/OlaHsd
Allele Type:    Targeted (Hypomorph)
Mutations:    Insertion, Intragenic deletion
Mutation detailsThe 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)
View phenotypes for all genotypes (concatenated display).
Disease models
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Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Sptbn2 Mutation:  37 strains or lines available
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
All:  5 reference(s)

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last database update
MGI 6.04
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