Primary Identifier | MGI:5296904 | Allele Type | Targeted |
Attribute String | Humanized sequence, Null/knockout | Gene | Cacna1c |
Transmission | Germline | Strain of Origin | (C57BL/6NTac x 129S6/SvEvTac)F1 |
Is Recombinase | false | Is Wild Type | false |
molecularNote | A G to A transition at the end of exon 8 results in a G406R mutation which appears to be a gain of function mutation that is embryonic lethal in both hetero- and homozygotes. The insertion of an FRT:loxP flanked-inverted Neo cassette 301 bp downstream of the G->A point mutation introduces a stop codon in alternative exon 8A (which is mutually exclusive with exon 8) and ameliorates the lethality of the point mutation in heterozygotes. |