Sptbn2^tm1Mjac
Targeted Allele Detail

Summary

• Symbol: Sptbn2^tm1Mjac
• Name: spectrin beta, non-erythrocytic 2; targeted mutation 1, Mandy Jackson
• MGI ID: MGI:4821979
• Synonyms: beta-III^-
• Gene: Sptbn2 Location: Chr19:4761195-4802388 bp, + strand Genetic Position: Chr19, 4.1 cM
• Alliance: Sptbn2^tm1Mjac page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:159622
• Parent Cell Line: E14TG2a (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Hypomorph)
• Mutations: Insertion, Intragenic deletion
• 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)

Disease models

Find Mice (IMSR)

• 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: 100 strains or lines available

References

• 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: 6 reference(s)