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Cacna1fnob9
Spontaneous Allele Detail
Nomenclature
Symbol: Cacna1fnob9
Name: calcium channel, voltage-dependent, alpha 1F subunit; no b wave 9
MGI ID: MGI:5817401
Gene: Cacna1f  Location: ChrX:7607103-7635196 bp, + strand  Genetic Position: ChrX, 3.42 cM
Mutation
origin
Strain of Origin:  C57BL/6J-Chr 10.3PWD/Ph/ForeJ
Mutation
description
Allele Type:    Spontaneous (Not Specified)
Mutations:    Intragenic deletion, Single point mutation
 
Mutation detailsThis 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
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 2 anatomical structures
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:  5 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
02/23/2021
MGI 6.16
The Jackson Laboratory