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Spontaneous Allele Detail
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

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 detailsThis 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).
Disease models
In Structures Affected by this Mutation: 8 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 23 strains available      Cell Lines: 0 lines available
Carrying any Tyr Mutation:  360 strains or lines available
Original:  J:27522 Green EL, Albino-2J (c2J). Mouse News Lett. 1973;49:31
All:  101 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
MGI 6.22
The Jackson Laboratory