Primary Identifier | MGI:5817401 | Allele Type | Spontaneous |
Attribute String | Not Specified | Gene | Cacna1f |
Inheritance Mode | Recessive | Strain of Origin | C57BL/6J-Chr 10.3<PWD/Ph>/ForeJ |
Is Recombinase | false | Is Wild Type | false |
molecularNote | 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. |