Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol: Tyrc-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: Tyrc-2J page

Tyrc-2J/Tyrc-2J Show the 2 phenotype image(s) involving this allele.

Strain of Origin:

B6.Cg-Tyrp1b Hps1ep

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

View phenotypes and curated references for all genotypes (concatenated display).

In Mice Carrying this Mutation:	2 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	8 anatomical structure(s)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 25 strains available      Cell Lines: 0 lines available
Carrying any Tyr Mutation:	375 strains or lines available

Original:	J:27522 Green EL, Albino-2J (c2J). Mouse News Lett. 1973;49:31
All:	105 reference(s)