Cacna1f^nob9
Spontaneous Allele Detail

Summary

• Symbol: Cacna1f^nob9
• Name: calcium channel, voltage-dependent, alpha 1F subunit; no b wave 9
• MGI ID: MGI:5817401
• Gene: Cacna1f Location: ChrX:7473342-7501435 bp, + strand Genetic Position: ChrX, 3.42 cM
• Alliance: Cacna1f^nob9 page

Mutation origin

• Strain of Origin: C57BL/6J-Chr 10.3^PWD/Ph/ForeJ

Mutation description

• Allele Type: Spontaneous (Not Specified)
• Mutations: Intragenic deletion, Single point mutation
• Mutation details: This spontaneous mutation involves an intronic G-to-A substitution, which creates a novel CAG splice acceptor site. Use of this ectopic acceptor creates a mis-spliced transcript with a 10 bp 5' extension of exon 14 that results in a frameshift and premature stop codon. (J:267160)
• Inheritance: Recessive

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: 1 strain available Cell Lines: 0 lines available
• Carrying any Cacna1f Mutation: 19 strains or lines available

References

• Original: J:267160 Dai X, et al., Photoreceptor degeneration in a new Cacna1f mutant mouse model. Exp Eye Res. 2018 Nov 13;179:106-114
• All: 1 reference(s)