Primary Identifier | MGI:6283535 | Allele Type | Chemically induced (ENU) |
Attribute String | Not Specified | Gene | Col3a1 |
Inheritance Mode | Recessive | Strain of Origin | C57BL/6J |
Is Recombinase | false | Is Wild Type | false |
Project Collection | Beutler Mutagenetix |
description | https://mutagenetix.utsouthwestern.edu/phenotypic/phenotypic_rec.cfm?pk=1583 |
molecularNote | ENU-induced A to T transversion at base pair 45,327,866 (v38) on chromosome 1, or base pair 16,329 in the GenBank genomic region NC_000067 encoding Col3a1 within the donor splice site of intron 10. The effects of the mutation at the cDNA and protein level have not examined, but the mutation is predicted to result in the use of a cryptic site in exon 10. The resulting transcript would have a 17-base pair deletion of exon 10, which would cause a frame shifted protein product beginning after amino acid 260 of the protein and terminating after the inclusion of 1 aberrant amino acids. |