Tyr<c> Spontaneous Allele Detail MGI Mouse (MGI:1855976)

Tyr^c
Spontaneous Allele Detail

Nomenclature

Symbol:	Tyr^c
Name:	tyrosinase; albino
MGI ID:	MGI:1855976
Synonyms:	c
Gene:	Tyr Location: Chr7:94577327-94641899 bp, - strand Genetic Position: Chr7, 44.0 cM

Tyr^c/Tyr^c and Tyr^c/Tyr^c-ch Oca2^p/ Oca2^p

Show the 3 image(s) involving this allele.

Mutation
origin

Strain of Origin:

old mutant of the mouse fancy

Mutation
description

Allele Type:	Spontaneous
Mutation:	Single point mutation
	The specific mutation in the albino allele is a G to C transversion causing an amino acid change from cysteine to serine. This mutation introduces a DdeI enzyme restriction site. (J:10889, J:40223)
Inheritance:	Recessive

Find Mice (IMSR)

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

Carrying this Mutation:	Mouse Strains: 42 strains available Cell Lines: 0 lines available
Carrying any Tyr Mutation:	206 strains or lines available

Expression

In Mice Carrying this Mutation:

75 assay results

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:

homeostasis/metabolism

√

lethality/prenatal-perinatal

√

nervous system

√

pigmentation

√

skin/coat/nails

√

vision/eye

√

Phenotypic
data by
genotype

Phenotypic Data by Genotype

(show or hide all phenotypic details)

Genotype	Allelic Composition	Genetic Background
ht1	Tyr^c-10FR60L/Tyr^c	involves: 101/Rl * C3H/Rl
pigmentation absent coat pigmentation (J:100221) skin/coat/nails absent coat pigmentation (J:100221)
Genotype	Allelic Composition	Genetic Background
ht2	Tyr^c-10R75M/Tyr^c	involves: 101/Rl * C3H/Rl
pigmentation absent coat pigmentation (J:100221) skin/coat/nails absent coat pigmentation (J:100221)
Genotype	Allelic Composition	Genetic Background
ht3	Tyr^c-112K/Tyr^c	involves: 101/Rl * C3H/Rl
pigmentation absent coat pigmentation (J:100221) skin/coat/nails absent coat pigmentation (J:100221)
Genotype	Allelic Composition	Genetic Background
ht4	Tyr^c-11DSD/Tyr^c	involves: 101/Rl * C3H/Rl
pigmentation absent coat pigmentation (J:100221) skin/coat/nails absent coat pigmentation (J:100221)
Genotype	Allelic Composition	Genetic Background
ht5	Tyr^c-12FR60Hb/Tyr^c	involves: 101/Rl * C3H/Rl
pigmentation absent coat pigmentation (J:100221) skin/coat/nails absent coat pigmentation (J:100221)
Genotype	Allelic Composition	Genetic Background
ht6	Tyr^c-12HATh/Tyr^c	involves: 101/Rl * C3H/Rl
pigmentation absent coat pigmentation (J:100221) skin/coat/nails absent coat pigmentation (J:100221)
Genotype	Allelic Composition	Genetic Background
ht7	Tyr^c-146G/Tyr^c	involves: 101/Rl * C3H/Rl
pigmentation absent coat pigmentation (J:100221) skin/coat/nails absent coat pigmentation (J:100221)
Genotype	Allelic Composition	Genetic Background
ht8	Tyr^c-14CoS/Tyr^c	involves: 101/Rl * C3H/Rl
pigmentation absent coat pigmentation (J:100221) skin/coat/nails absent coat pigmentation (J:100221)
Genotype	Allelic Composition	Genetic Background
ht9	Tyr^c-14FR60Hb/Tyr^c	involves: 101/Rl * C3H/Rl
pigmentation absent coat pigmentation (J:100221) skin/coat/nails absent coat pigmentation (J:100221)
Genotype	Allelic Composition	Genetic Background
ht10	Tyr^c-15DSD/Tyr^c	involves: 101/Rl * C3H/Rl
pigmentation absent coat pigmentation (J:100221) skin/coat/nails absent coat pigmentation (J:100221)
Genotype	Allelic Composition	Genetic Background
ht11	Tyr^c-15R145M/Tyr^c	involves: 101/Rl * C3H/Rl
pigmentation absent coat pigmentation (J:100221) skin/coat/nails absent coat pigmentation (J:100221)
Genotype	Allelic Composition	Genetic Background
ht12	Tyr^c-15R60L/Tyr^c	involves: 101/Rl * C3H/Rl
pigmentation absent coat pigmentation (J:100221) skin/coat/nails absent coat pigmentation (J:100221)
Genotype	Allelic Composition	Genetic Background
ht13	Tyr^c-16DFiOD/Tyr^c	involves: 101/Rl * C3H/Rl
pigmentation absent coat pigmentation (J:100221) skin/coat/nails absent coat pigmentation (J:100221)
Genotype	Allelic Composition	Genetic Background
ht14	Tyr^c-16HATh/Tyr^c	involves: 101/Rl * C3H/Rl
pigmentation absent coat pigmentation (J:100221) skin/coat/nails absent coat pigmentation (J:100221)
Genotype	Allelic Composition	Genetic Background
ht15	Tyr^c-177G/Tyr^c	involves: 101/Rl * C3H/Rl
pigmentation absent coat pigmentation (J:100221) skin/coat/nails absent coat pigmentation (J:100221)
Genotype	Allelic Composition	Genetic Background
ht16	Tyr^c-17UThc/Tyr^c	involves: 101/Rl * C3H/Rl
pigmentation absent coat pigmentation (J:100221) skin/coat/nails absent coat pigmentation (J:100221)
Genotype	Allelic Composition	Genetic Background
ht17	Tyr^c-19DTR/Tyr^c	involves: 101/Rl * C3H/Rl
pigmentation absent coat pigmentation (J:100221) skin/coat/nails absent coat pigmentation (J:100221)
Genotype	Allelic Composition	Genetic Background
ht18	Tyr^c-1DThWb/Tyr^c	involves: 101/Rl * C3H/Rl
pigmentation absent coat pigmentation (J:100221) skin/coat/nails absent coat pigmentation (J:100221)
Genotype	Allelic Composition	Genetic Background
ht19	Tyr^c-1FAFyh/Tyr^c	involves: 101/Rl * C3H/Rl
pigmentation absent coat pigmentation (J:100221) skin/coat/nails absent coat pigmentation (J:100221)
Genotype	Allelic Composition	Genetic Background
ht20	Tyr^c-1FATw/Tyr^c	involves: 101/Rl * C3H/Rl
pigmentation absent coat pigmentation (J:100221) skin/coat/nails absent coat pigmentation (J:100221)
Genotype	Allelic Composition	Genetic Background
ht21	Tyr^c-1FDFoHrc/Tyr^c	involves: 101/Rl * C3H/Rl
pigmentation absent coat pigmentation (J:100221) skin/coat/nails absent coat pigmentation (J:100221)
Genotype	Allelic Composition	Genetic Background
ht22	Tyr^c-1FR60Hb/Tyr^c	involves: 101/Rl * C3H/Rl
pigmentation absent coat pigmentation (J:100221) skin/coat/nails absent coat pigmentation (J:100221)
Genotype	Allelic Composition	Genetic Background
ht23	Tyr^c-202G/Tyr^c	involves: 101/Rl * C3H/Rl
pigmentation absent coat pigmentation (J:100221) skin/coat/nails absent coat pigmentation (J:100221)
Genotype	Allelic Composition	Genetic Background
ht24	Tyr^c-20FATw/Tyr^c	involves: 101/Rl * C3H/Rl
pigmentation absent coat pigmentation (J:100221) skin/coat/nails absent coat pigmentation (J:100221)
Genotype	Allelic Composition	Genetic Background
ht25	Tyr^c-222THO-I/Tyr^c	involves: 101/Rl * C3H/Rl
pigmentation absent coat pigmentation (J:100221) skin/coat/nails absent coat pigmentation (J:100221)
Genotype	Allelic Composition	Genetic Background
ht26	Tyr^c-23DVT/Tyr^c	involves: 101/Rl * C3H/Rl
pigmentation absent coat pigmentation (J:100221) skin/coat/nails absent coat pigmentation (J:100221)
Genotype	Allelic Composition	Genetic Background
ht27	Tyr^c-24R145L/Tyr^c	involves: 101/Rl * C3H/Rl
pigmentation absent coat pigmentation (J:100221) skin/coat/nails absent coat pigmentation (J:100221)
Genotype	Allelic Composition	Genetic Background
ht28	Tyr^c-24R75M/Tyr^c	involves: 101/Rl * C3H/Rl
pigmentation absent coat pigmentation (J:100221) skin/coat/nails absent coat pigmentation (J:100221)
Genotype	Allelic Composition	Genetic Background
ht29	Tyr^c-26DVT/Tyr^c	involves: 101/Rl * C3H/Rl
pigmentation absent coat pigmentation (J:100221) skin/coat/nails absent coat pigmentation (J:100221)
Genotype	Allelic Composition	Genetic Background
ht30	Tyr^c-27FrThc/Tyr^c	involves: 101/Rl * C3H/Rl
pigmentation absent coat pigmentation (J:100221) skin/coat/nails absent coat pigmentation (J:100221)
Genotype	Allelic Composition	Genetic Background
ht31	Tyr^c-2CHLb/Tyr^c	involves: 101/Rl * C3H/Rl
pigmentation absent coat pigmentation (J:100221) skin/coat/nails absent coat pigmentation (J:100221)
Genotype	Allelic Composition	Genetic Background
ht32	Tyr^c-2MLPm/Tyr^c	involves: 101/Rl * C3H/Rl
pigmentation absent coat pigmentation (J:100221, J:24557) skin/coat/nails absent coat pigmentation (J:100221, J:24557)
Genotype	Allelic Composition	Genetic Background
ht33	Tyr^c-2R145L/Tyr^c	involves: 101/Rl * C3H/Rl
pigmentation absent coat pigmentation (J:100221) skin/coat/nails absent coat pigmentation (J:100221)
Genotype	Allelic Composition	Genetic Background
ht34	Tyr^c-2YPSj/Tyr^c	involves: 101/Rl * C3H/Rl
pigmentation absent coat pigmentation (J:100221) skin/coat/nails absent coat pigmentation (J:100221)
Genotype	Allelic Composition	Genetic Background
ht35	Tyr^c-3YPSd/Tyr^c	involves: 101/Rl * C3H/Rl
pigmentation absent coat pigmentation (J:100221) skin/coat/nails absent coat pigmentation (J:100221)
Genotype	Allelic Composition	Genetic Background
ht36	Tyr^c-68G/Tyr^c	involves: 101/Rl * C3H/Rl
pigmentation absent coat pigmentation (J:100221) skin/coat/nails absent coat pigmentation (J:100221)
Genotype	Allelic Composition	Genetic Background
ht37	Tyr^c-7R250H/Tyr^c	involves: 101/Rl * C3H/Rl
pigmentation absent coat pigmentation (J:100221) skin/coat/nails absent coat pigmentation (J:100221)
Genotype	Allelic Composition	Genetic Background
ht38	Tyr^c-4PB/Tyr^c	involves: 101/Rl * C3H/Rl
pigmentation absent coat pigmentation (J:100221) skin/coat/nails absent coat pigmentation (J:100221)
Genotype	Allelic Composition	Genetic Background
ht39	Tyr^c-39SAS/Tyr^c	involves: 101/Rl * C3H/Rl
pigmentation absent coat pigmentation (J:100221) skin/coat/nails absent coat pigmentation (J:100221)
Genotype	Allelic Composition	Genetic Background
ht40	Tyr^c-3R60L/Tyr^c	involves: 101/Rl * C3H/Rl
pigmentation absent coat pigmentation (J:100221) skin/coat/nails absent coat pigmentation (J:100221)
Genotype	Allelic Composition	Genetic Background
ht41	Tyr^c-3R145L/Tyr^c	involves: 101/Rl * C3H/Rl
pigmentation absent coat pigmentation (J:100221) skin/coat/nails absent coat pigmentation (J:100221)
Genotype	Allelic Composition	Genetic Background
ht42	Tyr^c-9FR60Hb/Tyr^c	involves: 101/Rl * C3H/Rl
pigmentation absent coat pigmentation (J:100221) skin/coat/nails absent coat pigmentation (J:100221)
Genotype	Allelic Composition	Genetic Background
ht43	Tyr^c-AL/Tyr^c	involves: 101/Rl * C3H/Rl
pigmentation absent coat pigmentation (J:100221) skin/coat/nails absent coat pigmentation (J:100221)
Genotype	Allelic Composition	Genetic Background
ht44	Tyr^c-4FR60Hd/Tyr^c	involves: 101/Rl * C3H/Rl
pigmentation absent coat pigmentation (J:100221) skin/coat/nails absent coat pigmentation (J:100221)
Genotype	Allelic Composition	Genetic Background
ht45	Tyr^c-5FR60Hg/Tyr^c	involves: 101/Rl * C3H/Rl
pigmentation absent coat pigmentation (J:100221) skin/coat/nails absent coat pigmentation (J:100221)
Genotype	Allelic Composition	Genetic Background
ht46	Tyr^c-LA/Tyr^c	involves: 101/Rl * C3H/Rl
pigmentation absent coat pigmentation (J:100221) skin/coat/nails absent coat pigmentation (J:100221)
Genotype	Allelic Composition	Genetic Background
ht47	Tyr^c-65K/Tyr^c	involves: 101/Rl * C3H/Rl
pigmentation absent coat pigmentation (J:100221) skin/coat/nails absent coat pigmentation (J:100221)
Genotype	Allelic Composition	Genetic Background
ht48	Tyr^c-31HATh/Tyr^c	involves: 101/Rl * C3H/Rl
pigmentation absent coat pigmentation (J:100221) skin/coat/nails absent coat pigmentation (J:100221)
Genotype	Allelic Composition	Genetic Background
ht49	Tyr^c-32DSD/Tyr^c	involves: 101/Rl * C3H/Rl
pigmentation absent coat pigmentation (J:100221) skin/coat/nails absent coat pigmentation (J:100221)
Genotype	Allelic Composition	Genetic Background
ht50	Tyr^c-38R145L/Tyr^c	involves: 101/Rl * C3H/Rl
pigmentation absent coat pigmentation (J:100221) skin/coat/nails absent coat pigmentation (J:100221)
Genotype	Allelic Composition	Genetic Background
ht51	Tyr^c-3FAFyh/Tyr^c	involves: 101/Rl * C3H/Rl
pigmentation absent coat pigmentation (J:100221) skin/coat/nails absent coat pigmentation (J:100221)
Genotype	Allelic Composition	Genetic Background
ht52	Tyr^c-3FDFoHrd/Tyr^c	involves: 101/Rl * C3H/Rl
pigmentation absent coat pigmentation (J:100221) skin/coat/nails absent coat pigmentation (J:100221)
Genotype	Allelic Composition	Genetic Background
ht53	Tyr^c-3FR60Hb/Tyr^c	involves: 101/Rl * C3H/Rl
pigmentation absent coat pigmentation (J:100221) skin/coat/nails absent coat pigmentation (J:100221)
Genotype	Allelic Composition	Genetic Background
ht54	Tyr^c-45DSD/Tyr^c	involves: 101/Rl * C3H/Rl
pigmentation absent coat pigmentation (J:100221) skin/coat/nails absent coat pigmentation (J:100221)
Genotype	Allelic Composition	Genetic Background
ht55	Tyr^c-4CFO/Tyr^c	involves: 101/Rl * C3H/Rl
pigmentation absent coat pigmentation (J:100221) skin/coat/nails absent coat pigmentation (J:100221)
Genotype	Allelic Composition	Genetic Background
ht56	Tyr^c-51DTD/Tyr^c	involves: 101/Rl * C3H/Rl
pigmentation absent coat pigmentation (J:100221) skin/coat/nails absent coat pigmentation (J:100221)
Genotype	Allelic Composition	Genetic Background
ht57	Tyr^c-62DSD/Tyr^c	involves: 101/Rl * C3H/Rl
pigmentation absent coat pigmentation (J:100221) skin/coat/nails absent coat pigmentation (J:100221)
Genotype	Allelic Composition	Genetic Background
ht58	Tyr^c-65G/Tyr^c	involves: 101/Rl * C3H/Rl
pigmentation absent coat pigmentation (J:100221) skin/coat/nails absent coat pigmentation (J:100221)
Genotype	Allelic Composition	Genetic Background
ht59	Tyr^c-6THO-IV/Tyr^c	involves: 101/Rl * C3H/Rl
pigmentation absent coat pigmentation (J:100221) skin/coat/nails absent coat pigmentation (J:100221)
Genotype	Allelic Composition	Genetic Background
ht60	Tyr^c-76UT/Tyr^c	involves: 101/Rl * C3H/Rl
pigmentation absent coat pigmentation (J:100221) skin/coat/nails absent coat pigmentation (J:100221)
Genotype	Allelic Composition	Genetic Background
ht61	Tyr^c-77HATh/Tyr^c	involves: 101/Rl * C3H/Rl
pigmentation absent coat pigmentation (J:100221) skin/coat/nails absent coat pigmentation (J:100221)
Genotype	Allelic Composition	Genetic Background
ht62	Tyr^c-7THO-II/Tyr^c	involves: 101/Rl * C3H/Rl
pigmentation absent coat pigmentation (J:100221) skin/coat/nails absent coat pigmentation (J:100221)
Genotype	Allelic Composition	Genetic Background
ht63	Tyr^c-9Pub/Tyr^c	involves: 101/Rl * C3H/Rl
pigmentation absent coat pigmentation (J:100221) skin/coat/nails absent coat pigmentation (J:100221)
Genotype	Allelic Composition	Genetic Background
ht64	Tyr^c-36FrS/Tyr^c	involves: 101/Rl * C3H/Rl
pigmentation diluted coat color (J:100221) hair pigment reduced or altered all over skin/coat/nails diluted coat color (J:100221) hair pigment reduced or altered all over
Genotype	Allelic Composition	Genetic Background
ht65	Tyr^c-3DENb/Tyr^c	involves: 101/Rl * C3H/Rl
pigmentation absent coat pigmentation (J:100221) skin/coat/nails absent coat pigmentation (J:100221)
Genotype	Allelic Composition	Genetic Background
ht66	Tyr^c-8FrS/Tyr^c	involves: 101/Rl * C3H/Rl
pigmentation diluted coat color (J:100221) hair pigment reduced or altered all over skin/coat/nails diluted coat color (J:100221) hair pigment reduced or altered all over
Genotype	Allelic Composition	Genetic Background
ht67	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
ht68	Tyr^c/Tyr^c-a	involves: C3H/HeJ
pigmentation abnormal coat/hair pigmentation (J:14994) slightly off-white coat color ear and tail hairs are slightly sooty abnormal eye pigmentation (J:14994) eyes are dark but no comparison to wild-type given skin/coat/nails abnormal coat/hair pigmentation (J:14994) slightly off-white coat color ear and tail hairs are slightly sooty vision/eye abnormal eye pigmentation (J:14994) eyes are dark but no comparison to wild-type given
Genotype	Allelic Composition	Genetic Background
ht69	Tyr^c-Bc/Tyr^c	involves: SELH/Bc * SWV/Bc
pigmentation abnormal coat/hair pigmentation (J:62) absent coat pigmentation (J:62) affected mice are albino absent eye pigmentation (J:62) eyes appear pink skin/coat/nails abnormal coat/hair pigmentation (J:62) absent coat pigmentation (J:62) affected mice are albino vision/eye absent eye pigmentation (J:62) eyes appear pink
Genotype	Allelic Composition	Genetic Background
ht70	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
Genotype	Allelic Composition	Genetic Background
cx71	Th^tm1Srt/Th^tm1Srt Tyr^c/Tyr^c	involves: 129S2/SvPas * C57BL/6J * ICR
lethality/prenatal-perinatal prenatal lethality (J:54692) embryonic lethality, however time of lethality is not provided treatment of pregnant heterozygous females with L-Dopa, a catecholamine precursor compound, from E8.5 until birth, can rescue the embryonic lethality of homozygotes homeostasis/metabolism abnormal adrenaline level (J:54692) adrenal epinephrine levels are almost completely absent abnormal noradrenaline level (J:54692) heart, skin, brain and adrenal norepinephrine levels are almost completely absent nervous system decreased dopamine level (J:54692) brain dopamine levels are almost completely absent
Genotype	Allelic Composition	Genetic Background
cx72	chky/chky Tyr^c/Tyr^c	STOCK chky/J
Pale yellow coat and cataracts in the chky/chky Tyr^c/Tyr^c mouse pigmentation yellow coat color (J:149273) on an albino background mice homozygous for the chick yellow mutation have a slightly yellow coat color, which is evident by approximately 10 days of age when the first coat comes in skin/coat/nails yellow coat color (J:149273) on an albino background mice homozygous for the chick yellow mutation have a slightly yellow coat color, which is evident by approximately 10 days of age when the first coat comes in vision/eye abnormal lens morphology (J:149273) very early signs of cataracts are found at one month of age, lens extrusion and early signs of cataracts are found at 3 months of age, and retinal degeneration and cataracts are found at 7 months of age and thereafter cataracts (J:149273)

Notes

Tyr^c, albino. This very old mutant was already known in Greek and Roman times. Hair and eyes are completely devoid of pigment (J:5436, J:5001, J:30725). The albino mutation affects the amount of tyrosinase, and thus of melanin, in pigment cells, but does not interfere with the production of pigment cells themselves (J:12173, J:13092). Melanocytes with melanosomes showing normal fine structure occur in the retina and hair follicles. Pigment granules are smaller and fewer than normal and completely lack melanin (J:5346, J:5001, J:30725). Tyrosinase is almost absent (J:12173). Although Tyr is the structural gene for tyrosinase, some albino mutations may affect tyrosinase enzyme regulation rather than structure (J:6611), suggesting that these mutations affect tyrosinase inhibition (J:5346), presumably via control regions of the gene. All the mutant alleles are recessive to wild-type in phenotype, but heterozygotes with wild-type produce intermediate amounts of tyrosinase (J:12173). Albino-locus mutants with lightly pigmented eyes have a reduced number of fibers of the optic nerve going to the ipsilateral lateral geniculate nucleus of the brain. This is probably a secondary effect of reduced tyrosinase activity or amount of pigment in the pigment epithelium, since genes at other loci that reduce eye pigmentation also cause the same anomaly (J:5436, J:6064). Abnormal retinal pathways disrupted at the optic chiasm that occur in albinism can be corrected with a Tyr normal transgene (J:22320). Lipofuscin is a terminal oxidation product pigment that accumulates with age. In a cross of C57BL/6J and BALB/cJ, which differ in cardiac deposition of the pigment, this trait segregated with albinism, and is controlled by the Tyr locus (J:15460). Tyrc homozygotes do not perform as well as normal in a number of behavioral tests. It is likely that this effect is mediated, at least in part, by defective vision resulting from lack of retinal pigment (J:5470, J:5360, J:5378).

References

Original:	J:34484 Detlefsen JA, "A new mutation in the house mouse" Am Naturalist 1921 Sep-Oct;55():469-73
All:	25 reference(s)

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