Overview

Genetic overview

Genetic Background	Generation
000664 C57BL/6J

Tyr^c-h

Allele Type	Gene Symbol	Gene Name
Spontaneous	Tyr	tyrosinase

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Research Applications

Dermatology Research
Developmental Biology Research
Mouse/Human Gene Homologs

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Base Price

Starting at:

$2,854.50 Domestic price Cryo Recovery

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Details

Development

Himalayan, an allele at the tryosonase locus, arose spontaneously in the offspring of a cross between a DBA/2J male and an AKR/J female at The Jackson Laboratory in 1958. An affected male was backcrosses to an AKR/J female and the Tyr^c-h/Tyr^c carriers were mated to a C57BL/10Gn. Pairs were mated to produce the Tyr^c-h/Tyr^c-h mouse. The mutation was backcrossed onto strain C57BL/6J and was cryopreserved in 1987 by mating B6.Cg-Tyr^c-h homozygous males at N36F1 to C57BL/6J females.

Genetics

Tyr^c-h

Allele Symbol: Tyr^c-h

Allele Name	himalayan
Allele Type	Spontaneous
Allele Synonym(s)
Gene Symbol and Name	Tyr, tyrosinase
Gene Synonym(s)
Strain of Origin	(DBA/2 x AKR/J)F1
Chromosome	7
General Note	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).
Molecular Note	The mutation in the himalayan allele was found to be an A-to-G point mutation at coding nucleotide 1259 that results in an amino acid change at position 420 from histidine to arginine (p.H420R).

Disease/Phenotype

Disease Terms

Research Areas By Phenotype

This mouse can be used to support research in many areas including:

Genotype: Tyr^c-h related

Dermatology Research
- Color and White Spotting Defects
Developmental Biology Research
- Neurodevelopmental Defects
- Skeletal Defects
Mouse/Human Gene Homologs
- albinism, tyrosine negative

Mammalian Phenotype Terms by Genotype

The following phenotype information is associated with a similar, but not exact match to this JAX^® Mice strain

Genotype: Tyr^c-h/Tyr^c-h
involves: C57BL/6

integument phenotype

diluted coat color
- 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

pigmentation phenotype

diluted coat color
- 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: Tyr^c-h/Tyr^c-h
involves: AKR/J * DBA/2J

integument phenotype

abnormal coat appearance
- at first molt the nose, ears, tail, and scrotum but not the feet become considerably darker; the rest of the body becomes lighter
- at one week of age affected mice are slightly darker than albinos, particularly on tail
- dark hair on the nose extends back to the anterior border of the eyes
- 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

abnormal coat/hair pigmentation

diluted coat color
- the fully grown juvenile coat is pale tan with little evidence of darkening of extremities except the tail

vision/eye phenotype

absent eye pigmentation
- at birth

decreased eye pigmentation
- pink eye color of the new born darkens to ruby-colored by weaning

pigmentation phenotype

abnormal coat/hair pigmentation

absent eye pigmentation
- at birth

decreased eye pigmentation
- pink eye color of the new born darkens to ruby-colored by weaning

diluted coat color
- the fully grown juvenile coat is pale tan with little evidence of darkening of extremities except the tail

References

Additional References

Kidson S; Fabian B. 1979. Pigment synthesis in the Himalayan mouse. J Exp Zool 210(1):145-52PubMed: 536710 MGI: J:6275
Kidson SH; Fabian BC. 1981. The effect of temperature on tyrosinase activity in Himalayan mouse skin. J Exp Zool 215(1):91-7PubMed: 6785376 MGI: J:6508
Kwon BS; Halaban R; Chintamaneni C. 1989. Molecular basis of mouse Himalayan mutation. Biochem Biophys Res Commun 161(1):252-60PubMed: 2567165 MGI: J:9824
Kwon BS; Haq AK; Wakulchik M; Kestler D; Barton DE; Francke U; Lamoreux ML; Whitney JB 3rd; Halaban R. 1989. Isolation, chromosomal mapping, and expression of the mouse tyrosinase gene. J Invest Dermatol 93(5):589-94PubMed: 2507645 MGI: J:10058
Kwon BS; Wakulchik M; Haq AK; Halaban R; Kestler D. 1988. Sequence analysis of mouse tyrosinase cDNA and the effect of melanotropin on its gene expression. Biochem Biophys Res Commun 153(3):1301-9PubMed: 3134020 MGI: J:9242
Porter S; Mintz B. 1991. Multiple alternatively spliced transcripts of the mouse tyrosinase-encoding gene. Gene 97(2):277-82PubMed: 1900251 MGI: J:11014
Ruppert S; Muller G; Kwon B; Schutz G. 1988. Multiple transcripts of the mouse tyrosinase gene are generated by alternative splicing. EMBO J 7(9):2715-22PubMed: 2846281 MGI: J:9439

Additional - Tyr^c-h related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Genotyping resources and troubleshooting
Citation
When using the B6.Cg-Tyr^c-h/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #000104 in your Materials and Methods section.

Animal Health Reports

Facility Barrier Level Descriptions

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200

Pricing & Availability

Cryo Recovery

Domestic
International

Live Mouse

Age

Genotype

Price

weeks

Cryorecovery - Pricing

Service/Product	Description	Price
	Heterozygous for Tyr<c-h>

Payment Terms and Conditions

Terms are granted by individual review and stated on the customer invoice(s) and account statement. These transactions are payable in U.S. currency within the granted terms. Payment for services, products, shipping containers, and shipping costs that are rendered are expected within the payment terms indicated on the invoice or stated by contract. Invoices and account balances in arrears of stated terms may result in The Jackson Laboratory pursuing collection activities including but not limited to outside agencies and court filings.

The Jackson Laboratory's Genotype Promise

The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.

Terms Of Use

General Terms and Conditions

Questions about Terms of Use

Licensing Information

Phone: 207-288-6470

Email: TechTran@jax.org

JAX® Mice, Products & Services Conditions of Use

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Genetic overview

Research Applications

Base Price

Development

Tyrc-h

Allele Symbol: Tyrc-h

Disease Terms

Research Areas By Phenotype

This mouse can be used to support research in many areas including:

Genotype: Tyrc-h related

Mammalian Phenotype Terms by Genotype

Genotype: Tyrc-h/Tyrc-hinvolves: C57BL/6

integument phenotype

pigmentation phenotype

Genotype: Tyrc-h/Tyrc-hinvolves: AKR/J * DBA/2J

integument phenotype

vision/eye phenotype

pigmentation phenotype

References

Additional References

Additional - Tyrc-h related

Genotyping Protocols

Citation

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200

Live Mouse

Cryorecovery - Pricing

Payment Terms and Conditions

The Jackson Laboratory's Genotype Promise

Terms Of Use

Licensing Information

JAX® Mice, Products & Services Conditions of Use

No Warranty

Credit for PRODUCTS or SERVICES

Animal Care and Use for SERVICES

No Liability

Tyr^c-h

Allele Symbol: Tyr^c-h

Genotype: Tyr^c-h related

Genotype: Tyr^c-h/Tyr^c-h
involves: C57BL/6

Genotype: Tyr^c-h/Tyr^c-h
involves: AKR/J * DBA/2J

Additional - Tyr^c-h related