Tyr<c-p> Spontaneous Allele Detail MGI Mouse (MGI:1855981)

Tyr^c-p
Spontaneous Allele Detail

Nomenclature

Symbol:	Tyr^c-p
Name:	tyrosinase; platinum
MGI ID:	MGI:1855981
Synonyms:	c^P
Gene:	Tyr Location: Chr7:94577327-94641899 bp, - strand Genetic Position: Chr7, 44.0 cM

Mutation
origin

Strain of Origin:

DBA/2J

Mutation
description

Allele Type:	Spontaneous
Mutation:	Single point mutation
	The mutation in the platinum allele was found to be an A to T substitution, changing a lysine residue at position 489 to a termination codon. (J:30177)
Inheritance:	Recessive

Find Mice (IMSR)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)

Carrying this Mutation:	Mouse Strains: 1 strain available Cell Lines: 0 lines available
Carrying any Tyr Mutation:	206 strains or lines available

Phenotype
summary

Phenotype Summary by Mammalian Phenotype terms

(show or hide all annotated terms)

Genotypes are listed in the next section.

Key:

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

Affected Systems	Genotypes:	hm1	hm2	ht3
pigmentation		√	√	√
abnormal coat/hair pigmentation		√		√
abnormal hair follicle melanogenesis			√
diluted coat color			√
absent eye pigmentation		√
hypopigmentation		√
		hm1	hm2	ht3
skin/coat/nails		√	√	√
abnormal coat/hair pigmentation		√		√
abnormal hair follicle melanogenesis			√
diluted coat color			√
shiny fur		√
		hm1	hm2	ht3
vision/eye		√
absent eye pigmentation		√

Phenotypic
data by
genotype

Phenotypic Data by Genotype

(show or hide all phenotypic details)

Genotype	Allelic Composition	Genetic Background
hm1	Tyr^c-p/Tyr^c-p	involves: AKR/J * DBA/2J
pigmentation abnormal coat/hair pigmentation (J:13442) mice are a shade darker than albino absent eye pigmentation (J:13442) eyes appear pink hypopigmentation (J:13442) skin/coat/nails abnormal coat/hair pigmentation (J:13442) mice are a shade darker than albino shiny fur (J:13442) the coat has a lustre or sheen vision/eye absent eye pigmentation (J:13442) eyes appear pink
Genotype	Allelic Composition	Genetic Background
hm2	Tyr^c-p/Tyr^c-p	involves: C57BL/6
pigmentation abnormal hair follicle melanogenesis (J:6611, J:13319) the amount of melanin found in anagen hairbulbs is reduced by more than 20-fold compared to wild-type mice (J:6611) affected mice fail to produce a tyrsoinase isoform with a carboxy-terminal PEP7 epitope, which participates in a high molecular weight complex important to melanogenesis (J:13319) diluted coat color (J:6611) mice have slight pigmentation of the coat skin/coat/nails abnormal hair follicle melanogenesis (J:6611, J:13319) the amount of melanin found in anagen hairbulbs is reduced by more than 20-fold compared to wild-type mice (J:6611) affected mice fail to produce a tyrsoinase isoform with a carboxy-terminal PEP7 epitope, which participates in a high molecular weight complex important to melanogenesis (J:13319) diluted coat color (J:6611) mice have slight pigmentation of the coat
Genotype	Allelic Composition	Genetic Background
ht3	Tyr^c-p/Tyr^c	Not Specified
pigmentation abnormal coat/hair pigmentation (J:13442) the coat is intermediate between the homozygote and albino skin/coat/nails abnormal coat/hair pigmentation (J:13442) the coat is intermediate between the homozygote and albino

References

Original:	J:13442 Dickie MM, "Platinum" Mouse News Lett 1966;34():30
All:	6 reference(s)

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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