Primary Identifier | MGI:5806298 | Allele Type | Chemically induced (ENU) |
Attribute String | Not Specified | Gene | Kbtbd2 |
Inheritance Mode | Recessive | Strain of Origin | C57BL/6J |
Is Recombinase | false | Is Wild Type | false |
Project Collection | Beutler Mutagenetix |
molecularNote | ENU treatment induced a T-to-C transition at base pair 56,779,090 (GRCm38) on chromosome 6, equivalent to base pair 19,186 in the GenBank genomic region NC_000072. The mutation corresponds to residue 2,303 in the NM_145958 mRNA sequence in exon 4 of 4 total exons. The mutation results in a tyrosine (Y) to histidine (H) substitution at position 554 (p.Y554H) in the protein. |