Primary Identifier | MGI:3847238 | Allele Type | Spontaneous |
Attribute String | Null/knockout | Gene | Ucp1 |
Inheritance Mode | Recessive | Strain of Origin | C57BL/6J |
Is Recombinase | false | Is Wild Type | false |
molecularNote | This spontaneous mutation, discovered in the C57BL/6J colony at the Medical Research Council, Harwell, UK, has been identified as a point mutation (C-to-A) in exon 5 that introduces a new acceptor splice site. It is located at position chr2:83295206 (GRCm38) and creates a new CAG splice acceptor site from CCG. This acceptor is used in splicing, removing the first 39 nucleotides of exon 5 from the mRNA and 13 amino-acids from the encoded peptide. |