Cacna1a^tm3Hzo
Targeted Allele Detail

Summary

• Symbol: Cacna1a^tm3Hzo
• Name: calcium channel, voltage-dependent, P/Q type, alpha 1A subunit; targeted mutation 3, Huda Y Zoghbi
• MGI ID: MGI:3810388
• Synonyms: Sca6^84Q
• Gene: Cacna1a Location: Chr8:85065268-85366875 bp, + strand Genetic Position: Chr8, 40.95 cM
• Alliance: Cacna1a^tm3Hzo page

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 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 84, and transient cre expression was used to remove the floxed neo cassette. (J:139488)

Disease models

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

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: 118 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: 8 reference(s)