Primary Identifier | MGI:5607743 | Allele Type | Chemically induced (ENU) |
Attribute String | Hypomorph | Gene | Tyr |
Inheritance Mode | Recessive | Strain of Origin | C57BL/6J |
Is Recombinase | false | Is Wild Type | false |
Project Collection | Beutler Mutagenetix |
molecularNote | The molecular lesion is a G to T transversion at base pair 87,492,706 (v38) on chromosome 7 or base pair 737 in the GenBank genomic region NC_000073, which corresponds to nucleotide 706 in the mRNA sequence NM_011661 within exon 5 of 5 total exons. The mutation results in a leucine (L) to phenylalanine (F) substitution at amino acid position 215 (L215F) of the protein. |