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Sptbn2tm1Mjac
Targeted Allele Detail
Nomenclature
Symbol: Sptbn2tm1Mjac
Name: spectrin beta, non-erythrocytic 2; targeted mutation 1, Mandy Jackson
MGI ID: MGI:4821979
Synonyms: beta-III-
Gene: Sptbn2  Location: Chr19:4711223-4752352 bp, + strand  Genetic Position: Chr19, 4.1 cM
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 (knock-out)
Mutations:    Insertion, Intragenic deletion
 
Mutation details
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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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:  6 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:  5 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/15/2014
MGI 5.17
The Jackson Laboratory