Tyrp1^b-3Btlr
Chemically induced Allele Detail

Summary

• Symbol: Tyrp1^b-3Btlr
• Name: tyrosinase-related protein 1; brown 2 Bruce Beutler
• MGI ID: MGI:5806329
• Synonyms: butter
• Gene: Tyrp1 Location: Chr4:80752360-80769956 bp, + strand Genetic Position: Chr4, 37.89 cM
• Alliance: Tyrp1^b-3Btlr page

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: Beutler Mutagenetix

Mutation description

• Allele Type: Chemically induced (ENU) (Not Specified)
• Mutation: Single point mutation
• Mutation details: ENU-induced T to A transversion at base pair 80,840,806 (v38) on chromosome 4, or base pair 6,599 in the GenBank genomic region NC_000070. The mutation is within the donor splice site of intron 4, 2 base pairs from the previous exon (exon 4 out of 8 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 use of a cryptic site in intron 4, resulting in a transcript that has a 61 base pair insertion in intron 4. The insertion would cause a frame-shifted protein product beginning after amino acid 304 of the protein, and premature termination after the inclusion of 17 aberrant amino acids. (J:236678)
• Inheritance: Recessive

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Tyrp1 Mutation: 162 strains or lines available

References

• Original: J:236678 Reyna C, et al., Mutagenetix entry for butter. MGI Direct Data Submission. 2016
• All: 1 reference(s)