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Cacna1atm3Hzo
Targeted Allele Detail
Nomenclature
Symbol: Cacna1atm3Hzo
Name: calcium channel, voltage-dependent, P/Q type, alpha 1A subunit; targeted mutation 3, Huda Y Zoghbi
MGI ID: MGI:3810388
Synonyms: Sca684Q
Gene: Cacna1a  Location: Chr8:84338639-84640246 bp, + strand  Genetic Position: Chr8, 40.95 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:139488
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129S/SvEv
Mutation
description
Allele Type:    Targeted (Humanized sequence)
Mutations:    Insertion, Intragenic deletion, Nucleotide repeat expansion
 
Mutation detailsA floxed neo cassette was inserted upstream of exon 46 and exon 47 was replaced with its human equivalent. During the process the number of CAG repeats was modified to 84, and transient cre expression was used to remove the floxed neo cassette. (J:139488)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 2 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Cacna1a Mutation:  41 strains or lines available
References
Original:  J:139488 Watase K, et al., Spinocerebellar ataxia type 6 knockin mice develop a progressive neuronal dysfunction with age-dependent accumulation of mutant CaV2.1 channels. Proc Natl Acad Sci U S A. 2008 Aug 19;105(33):11987-92
All:  6 reference(s)

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
07/29/2020
MGI 6.15
The Jackson Laboratory