Tyr^c-Brd
Spontaneous Allele Detail

Summary

• Symbol: Tyr^c-Brd
• Name: tyrosinase; albino, Allan Bradley
• MGI ID: MGI:3640303
• Synonyms: C57BL/6^c-, c^Brd
• Gene: Tyr Location: Chr7:87073979-87142637 bp, - strand Genetic Position: Chr7, 49.01 cM
• Alliance: Tyr^c-Brd page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: This mutation arose spontaneously in or around 1991 in the C57BL/6 colony of Dr. Alan Bradley. It has been used in linkage studies based on the location of the tyrosinase gene on Chr 7, and its phenotype is complemented by a tyrosinase mini-gene. Sequence analysis of exon 1 identified the same G-to-T transversion at coding nucleotide 230 (c.230G>T), resulting in replacement of arginine by leucine at amino acid position 77 (p.R77L), that is present in the albino 2 Jackson allele Tyr^c-2J. It reverts at a very low frequency (there were two incidences in the original colony between 1992 and 1995), resulting in black pups in otherwise albino litters. (J:115975, J:115976)

Disease models

Expression

In Mice Carrying this Mutation:	3 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	3 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 8 strains available Cell Lines: 0 lines available
• Carrying any Tyr Mutation: 379 strains or lines available

References

• Original: J:50799 Liu P, et al., Embryonic lethality and tumorigenesis caused by segmental aneuploidy on mouse chromosome 11. Genetics. 1998 Nov;150(3):1155-68
• All: 17 reference(s)