Tyr<c-h> Spontaneous Allele Detail MGI Mouse (MGI:1855979)

Tyr^c-h
Spontaneous Allele Detail

Nomenclature

Symbol:	Tyr^c-h
Name:	tyrosinase; himalayan
MGI ID:	MGI:1855979
Gene:	Tyr Location: Chr7:94577327-94641899 bp, - strand Genetic Position: Chr7, 44.0 cM

Tyr^c-h/ Tyr^c-h

Show the 1 image(s) involving this allele.

Mutation
origin

Strain of Origin:

(DBA/2 x AKR/J)F1

Mutation
description

Allele Type:	Spontaneous
Mutation:	Single point mutation
	The mutation in the himalayan allele was found to be an A to G point mutation at nucleotide 1259 that results in an amino acid change at position 420 from histidine to arginine. (J:9824)
Inheritance:	Semidominant

Find Mice (IMSR)

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

Carrying this Mutation:	Mouse Strains: 2 strains 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	ht4	ht5
pigmentation		√	√	√	√	√
abnormal coat/hair pigmentation		√		√	√	√
diluted coat color		√	√	√		√
absent eye pigmentation		√
reduced eye pigmentation		√		√
		hm1	hm2	ht3	ht4	ht5
skin/coat/nails		√	√	√	√	√
abnormal coat/hair pigmentation		√		√	√	√
diluted coat color		√	√	√		√
abnormal coat appearance		√		√
		hm1	hm2	ht3	ht4	ht5
vision/eye		√		√
absent eye pigmentation		√
reduced eye pigmentation		√		√

Phenotypic
data by
genotype

Phenotypic Data by Genotype

(show or hide all phenotypic details)

Genotype	Allelic Composition	Genetic Background
hm1	Tyr^c-h/Tyr^c-h	involves: AKR/J * DBA/2J
pigmentation abnormal coat/hair pigmentation (J:13075) diluted coat color (J:13075) the fully grown juvenile coat is pale tan with little evidence of darkening of extremities except the tail absent eye pigmentation (J:13075) at birth reduced eye pigmentation (J:13075) pink eye color of the new born darkens to ruby-colored by weaning skin/coat/nails abnormal coat/hair pigmentation (J:13075) diluted coat color (J:13075) the fully grown juvenile coat is pale tan with little evidence of darkening of extremities except the tail abnormal coat appearance (J:13075) at one week of age affected mice are slightly darker than albinos, particularly on tail the body coat color may range from unifrom to slightly lighter dorsal and ventral across the shoulders, darker toward the tail where a very dark ring of body fur develops adjacent to the tail at first molt the nose, ears, tail, and scrotum but not the feet become considerably darker; the rest of the body becomes lighter dark hair on the nose extends back to the anterior border of the eyes vision/eye absent eye pigmentation (J:13075) at birth reduced eye pigmentation (J:13075) pink eye color of the new born darkens to ruby-colored by weaning
Genotype	Allelic Composition	Genetic Background
hm2	Tyr^c-h/Tyr^c-h	involves: C57BL/6
pigmentation diluted coat color (J:6611) mice have slight pigmentation of the coat the amount of melanin found in anagen hairbulbs is reduced by more than 10-fold compared to wild-type mice skin/coat/nails diluted coat color (J:6611) mice have slight pigmentation of the coat the amount of melanin found in anagen hairbulbs is reduced by more than 10-fold compared to wild-type mice
Genotype	Allelic Composition	Genetic Background
ht3	Tyr^c-h/Tyr^c	involves: AKR/J * DBA/2J
pigmentation abnormal coat/hair pigmentation (J:13075) diluted coat color (J:13075) coats of juvenile mice are very pale buff reduced eye pigmentation (J:13075) coloring is intermediate between pink of albinos and deeep ruby of homozygous himalayan skin/coat/nails abnormal coat/hair pigmentation (J:13075) diluted coat color (J:13075) coats of juvenile mice are very pale buff abnormal coat appearance (J:13075) although indistinguishable from albino at birth coat color is intermediate between albino and homozygous himalayan at about one week of age with the first molt extremities darken but not as dark as seen in the homozygote vision/eye reduced eye pigmentation (J:13075) coloring is intermediate between pink of albinos and deeep ruby of homozygous himalayan
Genotype	Allelic Composition	Genetic Background
ht4	Tyr^c-a/Tyr^c-h	involves: C3H/HeJ
pigmentation abnormal coat/hair pigmentation (J:14994) the coat is lighter than mice that are homozygous Tyr^c-h but indistinguishable from acromelanic homozygotes skin/coat/nails abnormal coat/hair pigmentation (J:14994) the coat is lighter than mice that are homozygous Tyr^c-h but indistinguishable from acromelanic homozygotes
Genotype	Allelic Composition	Genetic Background
ht5	Tyr^c-h/Tyr^c-25H	STOCK Tyr^c-h/Tyr^c-25H
pigmentation abnormal coat/hair pigmentation (J:5437) diluted coat color (J:5437) coat color is lighter than homozygous chinchilla but not albino skin/coat/nails abnormal coat/hair pigmentation (J:5437) diluted coat color (J:5437) coat color is lighter than homozygous chinchilla but not albino

Notes

Melanin granules of the retina are indistinguishable from those of chinchilla or of wild-type homozygotes (J:5001). Pigment synthesis in himalayan mice is temperature-sensitive; pigment develops in growing hairs of mice housed at 15oC but not in those housed at 30oC (J:6275). In explanation of this effect, it has been shown that tyrosinase in these mice is heat-labile (J:12173), being maximally active at well below body temperature. Tyrosinase of Tyrch homozygotes is strongly bound by an inhibitor at 37oC but not at lower temperatures (J:6508).

References

Original:	J:24726 Green MC, "New mutant: Himalayan, symbol c<h>." Mouse News Lett 1959;21():46
All:	11 reference(s)

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