Cacna1a^Wb
Chemically induced Allele Detail

Summary

• Symbol: Cacna1a^Wb
• Name: calcium channel, voltage-dependent, P/Q type, alpha 1A subunit; wobbly
• MGI ID: MGI:3706667
• Gene: Cacna1a Location: Chr8:85065268-85366875 bp, + strand Genetic Position: Chr8, 40.95 cM
• Alliance: Cacna1a^Wb page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: A G-to-T transversion at coding cDNA nucleotide 4189 (c.4189G>T in GenBank NM_007578) leads to an arginine-to-leucine substitution at amino acid position 1303 (p.R1303L), in the highly conserved, positively charged transmembrane segment S4 of repeat III of the encoded protein. Levels of transcript and protein encoded by the gene are similar in brains of mutant and wild-type mice. (J:119639)
• Inheritance: Dominant

Expression

In Structures Affected by this Mutation:

3 anatomical structure(s)

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 Cacna1a Mutation: 115 strains or lines available

Notes

RT-PCR shows diminished expression of mRNAs encoding the alpha 1G subunit of T-type voltage-dependent calcium channel (CACNA1G) and calbindin 2 (CALB2) and elevated expression of the tyrosine hydroxylase (TH) transcript in the cerebella of both heterozygous and homozygous mutant mice.

References

• Original: J:119639 Xie G, et al., Forward genetic screen of mouse reveals dominant missense mutation in the P/Q-type voltage-dependent calcium channel, CACNA1A. Genes Brain Behav. 2007 Oct;6(8):717-27
• All: 1 reference(s)