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| Nomenclature |
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Symbol:
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Tyrc-2J
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Name:
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tyrosinase;
albino 2 Jackson
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MGI ID: |
MGI:1855985 |
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Gene:
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Tyr
Location:
Chr7:94577327-94641899 bp, - strand
Genetic Position: Chr7,
44.0 cM
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Tyrc-2J/Tyrc-2J
Show the 2 image(s) involving this allele.
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Mutation
origin |
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Strain of Origin:
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B6.Cg-Tyrp1b Hps1ep
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Mutation
description |
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Allele
Type: |
Spontaneous |
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Mutation: |
Single point mutation |
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This 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) |
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Inheritance: |
Recessive |
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Phenotype
summary
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Phenotype Summary by Mammalian Phenotype terms
(show or
hide all annotated terms)
Genotypes are listed in the next section.
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Key:
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| hm |
homozygous |
ht |
heterozygous |
| cn |
conditional genotype |
cx |
complex: > 1 genome feature |
| tg |
involves transgenes |
ot |
other: hemizygous, indeterminate,... |
| N |
normal phenotype |
 |
expected model not found |
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Phenotypic
data by
genotype
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Phenotypic Data by Genotype
(show or
hide all phenotypic details)
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Disease
models
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1CYP1B1 is associated with this disease in humans.
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| References |
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