Tyr^c-2J
Spontaneous Allele Detail

Summary

• Symbol: Tyr^c-2J
• Name: tyrosinase; albino 2 Jackson
• MGI ID: MGI:1855985
• Gene: Tyr Location: Chr7:87073979-87142637 bp, - strand Genetic Position: Chr7, 49.01 cM
• Alliance: Tyr^c-2J page

Tyr^c-2J/Tyr^c-2J

Show the 2 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: B6.Cg-Tyrp1^b Hps1^ep

Mutation description

• Allele Type: Spontaneous (Null/knockout)
• Mutation: Single point mutation
• Mutation details: This mutation has a G-to-T base change at coding nucleotide 230 resulting in an amino acid change from arginine to leucine at residue 77 (p.R77L) which lies in the highly conserved DDRE sequence. Nucleotide 230 is at the alternative 5' splice donor site for exon 1 and this allele does not produce the 1a or 1b subset of tyrosinase transcripts but does produce a significant increase in 1c and 1d transcripts. Western blots of homozygous mutant skin extracts demostrate the nearly complete absence of the broad 76-84 kDa band of glycosylated wild-type tyrosinase. No tyrosinase activity was found in hairbulb extracts from homozygous mice. (J:6611, J:36008)
• Inheritance: Recessive

Disease models

Expression

In Mice Carrying this Mutation:	26 assay results 4 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	8 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 26 strains available Cell Lines: 0 lines available
• Carrying any Tyr Mutation: 379 strains or lines available

References

• Original: J:27522 Green EL, Albino-2J (c^2J). Mouse News Lett. 1973;49:31
• All: 126 reference(s)