Cacna1g^em1Ftan
Endonuclease-mediated Allele Detail

Summary

• Symbol: Cacna1g^em1Ftan
• Name: calcium channel, voltage-dependent, T type, alpha 1G subunit; endonuclease-mediated mutation 1, Fumiaki Tanaka
• MGI ID: MGI:6400521
• Synonyms: Cacna1g-Arg1723His-KI
• Gene: Cacna1g Location: Chr11:94299217-94365024 bp, - strand Genetic Position: Chr11, 58.9 cM
• Alliance: Cacna1g^em1Ftan page

Mutation origin

• Strain of Origin: C57BL/6NCrSlc

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a G to A change at position 5168 resulting in an arginine to histidine change at amino acid 1723 in exon 29. This mutation corresponds to the Arg1715His mutation identified in a Japanese family with spinocerebellar ataxia type 42. (J:278129)

Disease models

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 Cacna1g Mutation: 104 strains or lines available

References

• Original: J:278129 Hashiguchi S, et al., Ataxic phenotype with altered CaV3.1 channel property in a mouse model for spinocerebellar ataxia 42. Neurobiol Dis. 2019 Oct;130:104516
• All: 1 reference(s)