Primary Identifier | MGI:3033341 | Allele Type | Spontaneous |
Attribute String | Modified isoform(s) | Gene | Dnm1 |
Inheritance Mode | Semidominant | Strain of Origin | C57BL/6J |
Is Recombinase | false | Is Wild Type | false |
molecularNote | A single change of a G-to-A in the first of two alternatively spliced regions results in an alanine to threonine substitution at amino acid 408 (p.A408T). This mutation only affects the Dnm1ax isoform sequences; the a exon is spliced out in the Dnm1bx forms, resulting all three Dnm1ax transcripts being altered. |