| Primary Identifier | MGI:1856953 | Allele Type | Spontaneous |
| Gene | Ttn | Inheritance Mode | Recessive |
| Strain of Origin | C57BL/6J | Is Recombinase | false |
| Is Wild Type | false |
| description | Genbank ID for this allele: AF426842, AF426843 |
| molecularNote | A complex rearrangement involving the deletion of 3 bp of exon C and all of exons D and E (a total of 779 bp) and the in-frame insertion of a 5'-truncated LINE-1 retrotransposon (~2.4 kb). The deletion is predicted to elminate the final 21 residues of the CAPN3 binding site. Low levels of expression of the partial LINE sequence were detected by RT-PCR analysis. |
