Ucp1^m1H
Spontaneous Allele Detail

Summary

• Symbol: Ucp1^m1H
• Name: uncoupling protein 1 (mitochondrial, proton carrier); mutation 1, Harwell
• MGI ID: MGI:3847238
• Synonyms: TRI, UCP1 SNP
• Gene: Ucp1 Location: Chr8:84016981-84025081 bp, + strand Genetic Position: Chr8, 39.65 cM
• Alliance: Ucp1^m1H page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Spontaneous (Null/knockout)
• Mutation: Single point mutation
• Mutation details: 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. (J:148827)
• Inheritance: Recessive

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Ucp1 Mutation: 51 strains or lines available

References

• Original: J:148827 Moir L, et al., TRI is an allele of Ucp1 and results in thermoregulation defects: Record for Ucp1^1H. MGI Direct Data Submission. 2009
• All: 4 reference(s)