Tyr^c-Btlr
Chemically induced Allele Detail

Summary

• Symbol: Tyr^c-Btlr
• Name: tyrosinase; albino Bruce Beutler
• MGI ID: MGI:3777840
• Synonyms: ghost, Tyr^c-ghost
• Gene: Tyr Location: Chr7:87073979-87142637 bp, - strand Genetic Position: Chr7, 49.01 cM
• Alliance: Tyr^c-Btlr page

Mutation origin

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

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: The mutation is an A-to-G transition at coding nucleotide 1088, in the third of 5 exons, that replaces histidine with arginine at amino acid position 363 (p.H363R) of the protein. This highly conserved histidine is one of three copper-binding histidines in the second copper-binding domain (CuB) of the protein and is essential for its enzymatic activity. (J:133116)
• Inheritance: Recessive

Expression

In Mice Carrying this Mutation:	19 assay results
In Structures Affected by this Mutation:	2 anatomical structure(s)

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 Tyr Mutation: 379 strains or lines available

References

• Original: J:133116 Beutler B, Ghost, an ENU-induced mouse albino remutation. MGI Direct Data Submission. 2008
• All: 2 reference(s)