Tyrp1<B-lt> Spontaneous Allele Detail MGI Mouse (MGI:1855962)

Tyrp1^B-lt
Spontaneous Allele Detail

Nomenclature

Symbol:	Tyrp1^B-lt
Name:	tyrosinase-related protein 1; light
MGI ID:	MGI:1855962
Gene:	Tyrp1 Location: Chr4:80480027-80497623 bp, + strand Genetic Position: Chr4, 38.0 cM

Tyrp1^B-lt/Tyrp1^B-lt

Show the 1 image(s) involving this allele.

Mutation
origin

Strain of Origin:

C58

Mutation
description

Allele Type:	Spontaneous
Mutation:	Single point mutation
	A C-to-T transition at position 113 is predicted to result in an arginine to cysteine substitition at codon 38. (J:1086)
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 Tyrp1 Mutation:	105 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:

hearing/vestibular/ear

√

homeostasis/metabolism

√

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
hm1	Tyrp1^B-lt/Tyrp1^B-lt	C58
pigmentation abnormal coat/hair pigmentation (J:13061) diluted coat color (J:13061) hair tips are brown, the rest of the hair shaft white mice are distinguished from normal by 2 weeks of age coat color is rapidly lightened as hair lengthens moulting often creates a mosaic coat color pattern the lighter coat color is difficult to see on an agouti background skin/coat/nails abnormal coat/hair pigmentation (J:13061) diluted coat color (J:13061) hair tips are brown, the rest of the hair shaft white mice are distinguished from normal by 2 weeks of age coat color is rapidly lightened as hair lengthens moulting often creates a mosaic coat color pattern the lighter coat color is difficult to see on an agouti background
Genotype	Allelic Composition	Genetic Background
hm2	Tyrp1^B-lt/Tyrp1^B-lt	involves: C57BL/6J
homeostasis/metabolism increased bleeding time (J:7327) bleed time of 5.7 minutes on average after tail nick is higher than the 3.8 minutes in C57BL/6J controls
Genotype	Allelic Composition	Genetic Background
hm3	Tyrp1^B-lt/Tyrp1^B-lt	LT/SvEiJ
Tyrp1^B-lt/Tyrp1^B-lt pigmentation abnormal iris pigmentation (J:141035) iris pigmentation is dispersed vision/eye abnormal iris pigmentation (J:141035) iris pigmentation is dispersed
Genotype	Allelic Composition	Genetic Background
hm4	Tyrp1^B-lt/Tyrp1^B-lt	Not Specified
hearing/vestibular/ear abnormal ear morphology (J:16249) abnormal inner ear morphology (J:16249) abnormal strial intermediate cells (J:16249) pigmentation is abundant as clumps in older mice abnormal hearing physiology (J:16249) abnormal endocochlear potential (J:16249) loss of endocochlear potential correlates with loss of pigment decreased endocochlear potential (J:16249) potential is reduced to 19-59mV in 30% of two age groups: 2.5 to 4 mo and 1-2 years loss of potential is correlated with loss of pigment with age pigmentation abnormal strial intermediate cells (J:16249) pigmentation is abundant as clumps in older mice abnormal coat/hair pigmentation (J:16249) pigment is lost as mice age diluted coat color (J:1086) base of hairs become lighter as more pigment is lost with age, older mice are pale grey in color pigment loss is due to premature melanocyte death mediated by natural toxicity of pigment production skin/coat/nails abnormal coat/hair pigmentation (J:16249) pigment is lost as mice age diluted coat color (J:1086) base of hairs become lighter as more pigment is lost with age, older mice are pale grey in color pigment loss is due to premature melanocyte death mediated by natural toxicity of pigment production
Genotype	Allelic Composition	Genetic Background
ht5	Tyrp1^B-lt/Tyrp1⁺	C58
pigmentation abnormal coat/hair pigmentation (J:13061) diluted coat color (J:13061) the majority of each hair from tip down is pigmented, the lower part is less pigmented appearing gray mice are lighter than wildtype nonagouti mice but darker than homozygotes skin/coat/nails abnormal coat/hair pigmentation (J:13061) diluted coat color (J:13061) the majority of each hair from tip down is pigmented, the lower part is less pigmented appearing gray mice are lighter than wildtype nonagouti mice but darker than homozygotes
Genotype	Allelic Composition	Genetic Background
ht6	Tyrp1^B-lt/Tyrp1⁺	Not Specified
hearing/vestibular/ear abnormal ear morphology (J:16249) abnormal inner ear morphology (J:16249) abnormal stria vascularis (J:16249) abnormal ear physiology (J:16249) abnormal hearing physiology (J:16249) decreased endocochlear potential (J:16249) potential is reduced in 30% of mice as mice age reduction in potential is correlated with appearance of abundant pigment clumps in the stria vascularis pigmentation abnormal coat/hair pigmentation (J:16249) coat pigment is reduced with age skin/coat/nails abnormal coat/hair pigmentation (J:16249) coat pigment is reduced with age
Genotype	Allelic Composition	Genetic Background
cx7	A/a Myo5a^d/Myo5a⁺ Oca2^p/Oca2⁺ Tyrp1^B-lt/Tyrp1⁺	involves: C58 * CT/Ch
pigmentation diluted coat color (J:13094) dark sepia in color unlike mice wildtype for pink-eye the hairs are pigmented from tip to base and do not have large clumps of pigment, but may have small clumps of pigment skin/coat/nails diluted coat color (J:13094) dark sepia in color unlike mice wildtype for pink-eye the hairs are pigmented from tip to base and do not have large clumps of pigment, but may have small clumps of pigment
Genotype	Allelic Composition	Genetic Background
cx8	a/a Tyrp1^B-lt/Tyrp1^B-lt	Not Specified
pigmentation abnormal dorsoventral coat patterning (J:13094) the ventral hairs are substantially less pigmented than those of the dorsum abnormal hair follicle melanin granule morphology (J:13094) although in early stages of hair growth the granules are round and relatively uniform in size, in later stages they are larger, more variable in size, and some clumping is found by the 9th day of a new hair growth cycle some hair bulbs are devoid of pigmentation and by 14 days very few follicles have active melanocytes enlarged hair follicle melanin granules (J:13094) abnormal hair shaft melanin granules (J:13094) variation in the amount of pigmentation present in one hair shaft versus the next variation in the size ans shape of pigment granules, with some instances of large masses of pigment in a particular hair shaft abnormal hair shaft melanin granule distribution (J:13094) hair shafts have large clumps of pigmented granules predominantly restricted to the medullary regions decreased pigmentation in the hair shafts with age reduced hair shaft melanin granule number (J:13094) skin/coat/nails abnormal dorsoventral coat patterning (J:13094) the ventral hairs are substantially less pigmented than those of the dorsum abnormal hair follicle melanin granule morphology (J:13094) although in early stages of hair growth the granules are round and relatively uniform in size, in later stages they are larger, more variable in size, and some clumping is found by the 9th day of a new hair growth cycle some hair bulbs are devoid of pigmentation and by 14 days very few follicles have active melanocytes enlarged hair follicle melanin granules (J:13094) abnormal hair shaft melanin granules (J:13094) variation in the amount of pigmentation present in one hair shaft versus the next variation in the size ans shape of pigment granules, with some instances of large masses of pigment in a particular hair shaft abnormal hair shaft melanin granule distribution (J:13094) hair shafts have large clumps of pigmented granules predominantly restricted to the medullary regions decreased pigmentation in the hair shafts with age reduced hair shaft melanin granule number (J:13094)
Genotype	Allelic Composition	Genetic Background
cx9	a/a Tyrp1^B-lt/Tyrp1⁺	Not Specified
pigmentation abnormal dorsoventral coat patterning (J:13094) the ventral hairs are substantially less pigmented than those of the dorsum abnormal hair shaft melanin granules (J:13094) large clumps of pigment are found in hair and vibrissae, but less frequently than in homozygotes abnormal hair shaft melanin granule distribution (J:13094) reduced hair shaft melanin granule number (J:13094) fewer pigment granules per septum in proceeding from tip to base of the hair, but more pigment granules than in homozygotes skin/coat/nails abnormal dorsoventral coat patterning (J:13094) the ventral hairs are substantially less pigmented than those of the dorsum abnormal hair shaft melanin granules (J:13094) large clumps of pigment are found in hair and vibrissae, but less frequently than in homozygotes abnormal hair shaft melanin granule distribution (J:13094) reduced hair shaft melanin granule number (J:13094) fewer pigment granules per septum in proceeding from tip to base of the hair, but more pigment granules than in homozygotes
Genotype	Allelic Composition	Genetic Background
cx10	A/a Tyrp1^B-lt/Tyrp1^B-lt	Not Specified
pigmentation diluted coat color (J:13094) more dilute than mice heterozygous for light due to a further diminution in the eumelanic pigment, but there is no alteration in the yellow bands of the hair shaft skin/coat/nails diluted coat color (J:13094) more dilute than mice heterozygous for light due to a further diminution in the eumelanic pigment, but there is no alteration in the yellow bands of the hair shaft
Genotype	Allelic Composition	Genetic Background
cx11	A^y/a Tyrp1^B-lt/?	Not Specified
pigmentation yellow coat color (J:13094) the light mutation does not seem to impact the yellow phenotype since the coat color of mice without the light mutation is the same yellow coat color as that found in mice carrying at least one copy of the light mutation skin/coat/nails yellow coat color (J:13094) the light mutation does not seem to impact the yellow phenotype since the coat color of mice without the light mutation is the same yellow coat color as that found in mice carrying at least one copy of the light mutation

References

Original:	J:13061 MacDOWELL EC, "'Light'--a new mouse color." J Hered 1950 Feb;41(2):35-6
All:	12 reference(s)

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