Cacna1i^em2Jqp
Endonuclease-mediated Allele Detail

Summary

• Symbol: Cacna1i^em2Jqp
• Name: calcium channel, voltage-dependent, alpha 1I subunit; endonuclease-mediated mutation 2, Jen Q Pan
• MGI ID: MGI:6704922
• Synonyms: Cacna1i^RH
• Gene: Cacna1i Location: Chr15:80171439-80282480 bp, + strand Genetic Position: Chr15, 37.85 cM, cytoband E2
• Alliance: Cacna1i^em2Jqp page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/Cas9 technology (using sgRNA 5'-CACCAACCGATCAGACTGTG-3') introduced a GA to AC change resulting in an arginine to histidine substitution at amino acid 1305 (R1305H), corresponding to a R1346H mutation identified in human schizophrenia proband. (J:302192)

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 Cacna1i Mutation: 74 strains or lines available

References

• Original: J:302192 Ghoshal A, et al., Effects of a patient-derived de novo coding alteration of CACNA1I in mice connect a schizophrenia risk gene with sleep spindle deficits. Transl Psychiatry. 2020 Jan 23;10(1):29
• All: 1 reference(s)