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Tyrc-2J
Spontaneous Allele Detail
Nomenclature
Symbol: Tyrc-2J
Name: tyrosinase; albino 2 Jackson
MGI ID: MGI:1855985
Gene: Tyr  Location: Chr7:87427405-87493411 bp, - strand  Genetic Position: Chr7, 49.01 cM
Tyrc-2J/Tyrc-2J

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

Mutation
origin
Strain of Origin:  B6.Cg-Tyrp1b Hps1ep
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsThis mutation has a G to T base change at nucleotide 291 resulting in an amino acid change from arginine to leucine at residue 77 which lies in the highly conserved DDRE sequence. Nucleotide 291 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
Phenotypes
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Disease models
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Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 11 strains available      Cell Lines: 1 line available
Carrying any Tyr Mutation:  288 strains or lines available
References
Original:  J:27522 Green EL, Albino-2J (c<2J>). Mouse News Lett. 1973;49:31
All:  60 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/12/2015
MGI 5.21
The Jackson Laboratory