Summary | Mutation origin | Mutation description | Phenotypes | Find Mice (IMSR) | References

Symbol:	Cacna1atm2Hzo
Name:	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit; targeted mutation 2, Huda Y Zoghbi
MGI ID:	MGI:3810387
Synonyms:	Sca630Q
Gene:	Cacna1a  Location: Chr8:85065268-85366875 bp, + strand  Genetic Position: Chr8, 40.95 cM
Alliance:	Cacna1atm2Hzo page

Germline Transmission:	Earliest citation of germline transmission: J:139488
Parent Cell Line:	Not Specified (ES Cell)
Strain of Origin:	129S/SvEv

Allele Type:    Targeted (Humanized sequence) Mutations:    Insertion, Intragenic deletion, Nucleotide repeat expansion   Mutation details: A 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 30, and transient cre expression was used to remove the floxed neo cassette. (J:139488)

View phenotypes and curated references for all genotypes (concatenated display).

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:	115 strains or lines available

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:	1 reference(s)