| Primary Identifier | MGI:5789551 | Allele Type | Chemically induced (ENU) |
| Attribute String | Not Specified | Gene | Tmprss6 |
| Inheritance Mode | Recessive | Strain of Origin | C57BL/6J |
| Is Recombinase | false | Is Wild Type | false |
| Project Collection | Beutler Mutagenetix |
| molecularNote | ENU-induced T to A transversion at base pair 78,446,657 (v38) on chromosome 15, or base pair in the GenBank genomic region NC_000081. The mutation is within intron 11, 6-base pairs from the previous exon (exon 11 out of 18 total exons). The effect of the mutation at the cDNA and protein level have not examined, but the mutation is predicted to result in the loss of the splice donor site in intron 11 with a concomitant use of a cryptic splice site in intron 11, leading to a 16-base pair insertion. The insertion would result in an in-frame protein product after amino acid 456 of the protein, followed by termination after the inclusion of 811 aberrant amino acids. |
