Strain Name:
B6.Cg-Tyrc-em/Mmmh
Stock Number:
000142-MU
Citation ID:
RRID:MMRRC_000142-MU
Major Collection:

Strain Information

Tyrc-em
Name: tyrosinase; extreme dilution mottled
Type: Allele
Species: Mus musculus (mouse)
Chromosome: 7
Alteration at locus: Spontaneous Mutation
Tyr
Name: tyrosinase
Synonyms: skc35, Oca1
Type: Gene
Species: Mouse
Chromosome: 7
Alteration at locus: Spontaneous Mutation
NCBI: 22173
Homologene: 30969
Genetic Alterations
Spontaneous mutation
Genotype Determination
Phenotype
Homozygous mutants have a beige coat color that is mottled with a lighter beige color. This appears to be a true chimerism. The eyes are also chimeric sectors of black pigment and absence of pigment.

Characteristics of the Locus: The albino (Tyr) locus encodes the rate-limiting enzyme for pigmentation, which is TYROSINASSE. The absolute requirement for functional TYROSINASE to catalyze the formation of melanin pigment is illustrated by the phenotypes of mice that lack this locus as a result of deletion, for example mice heterozygous for two overlapping deletions, MMRRC:009964 and MMRRC:009965 in which the albino locus is absent. The mice also lack all melanin pigment. Vertebrates that lack normal tyrosinase are characterized by reduction or absence of pigmentation in the eyes and/or skin. If the reduction of pigmentation is severe, optic nerve development may be abnormal, resulting in blindness. Reduction of melanogenesis may result from failure of normal tyrosinase function caused by its abnormal interaction with other proteins, from defects in its regulatory region, from absence or defect of the structural gene. The series of natural mutations that affect availability of normal tyrosinase function includes mutants of this type. C57BL/6J-Tyrc-2J/Tyrc-2J, available at The Jackson Laboratory, lacks tyrosinase activity as a result of point mutation in the structural region of the gene; Acromelanic (MMRRC:000140) may have a similar defect. Extreme dilution (MMRRC:000141) seems to have nearly normal pigmentation in the eyes, but their hair pigmentation is a uniform gray. In dark-eyed-albino (MMRRC:000139) the eye pigmentation is somewhat reduced, but intense, while the hair is unpigmented. Chinchilla mice(MMRRC:000144) are very dark, nearly black. Two of the mutant alleles, chinchilla mottled (MMRRC:000145) and extreme dilution mottled (MMRRC:000142) result in chimerism of hair and eye pigmentation that has been attributed to a rearrangement of the DNA 5kb upstream of the tyrosinase locus. One of the genes that regulates the activity of TYROSINASE is MITF. And there are functional interactions between TYROSINASE and TYROSINASE-RELATED PROTEIN within the pigment cell.
Mammalian Phenotype Terms
Allelic Composition: Tyrc-em/Tyrc-em (Genetic Background: involves: 101/H * C3H/HeH )

MeSH Terms
  • Alleles
  • Animals
  • Chromatin/physiology
  • Clone Cells
  • Color
  • Deoxyribonuclease I
  • Gene Rearrangement
  • Genes/physiology
  • Homozygote
  • Melanocytes/physiology
  • Mice
  • Monophenol Monooxygenase/genetics
  • Mosaicism
  • Pigments, Biological/genetics
  • Promoter Regions, Genetic
  • Transcription, Genetic
  • Blotting, Northern
  • Gene Expression/genetics
  • Humans
  • Mice, Transgenic
  • Neural Crest/cytology
  • Ocular Physiological Phenomena
  • Phenotype
  • Pigmentation/genetics
  • Blotting, Southern
  • Cell Line
  • Copper/metabolism
  • Crosses, Genetic
  • DNA/metabolism
  • DNA, Complementary/metabolism
  • Endoplasmic Reticulum/metabolism
  • Exons
  • Glycosylation
  • Golgi Apparatus/metabolism
  • Heterozygote
  • Immunohistochemistry
  • Melanins/biosynthesis
  • Melanins/metabolism
  • Mice, Mutant Strains
  • Microscopy, Confocal
  • Models, Genetic
  • Molecular Sequence Data
  • Monophenol Monooxygenase/biosynthesis
  • Mutation
  • Tyrosine/genetics
  • Tyrosine/metabolism
Strain Development
Mutation arose at MRC radiobiology unit in Harwell, England, where they were reported by JRS Phillips in several paragraphs in different issues of Mouse Newsletter. Donor received mice from Dr. JB Whitney, U. Georgia about 1981, at which time the mutation was carried with piebald (Ednrbs). Donor backcrossed for at least ten generations onto C57BL/6J and removed the piebald gene.
Suggested Control Mice
MMRRC Genetic QC Summary
The MMRRC Centers have developed a genetic QC pipeline using MiniMUGA array genotyping to provide additional information on strain backgrounds for MMRRC congenic and inbred strains. For more information on when data may be available, or to request genotyping for a strain of interest, please contact mmrrc@missouri.edu. Older strains may not have this information.
  • Pigmentation
  • Developmental Biology
  • Ophthalmology
  • Chimerism
  • molecular biology of gene regulation
  • tyrosinase
Donor
Dr. ML Lamoreux, Texas A&M University
Primary Reference
  • Porter S. Larue L. Mintz B. Mosaicism of tyrosinase-locus transcription and chromatin structure in dark vs. light melanocyte clones of homozygous chinchilla-mottled mice. Developmental Genetics. 12(6):393-402, 1991. (Medline PMID: 1822431)
  • Porter, Susan D. and Cathy J. Meyer. A distal tyrosinase upstream element stimulates gene expression in neural-crest-derived melanocytes of transgenic mice: position-independent and mosaic expression. Development. 1994 Aug;120(8):2103-11. (Medline: PMID: 7925014)
  • Deol, M.S. and Truslove, G. M. Nonrandom distribution of unpigmented melanocytes in the retina of chinchilla-mottled mice and its significance. In Proc. XIth Int. Pigm. Cell Conf., Sendai, Japan, 1980 pp. 153-157. (Medline: Not available)
  • Mouse News Letter, February 1980; Vol. 62, Pg. 52
  • Molecular Basis of the extreme dilution mottled Mouse Mutation: A COMBINATION OF CODING AND NONCODING GENOMIC ALTERATIONS*. J Biol Chem. 2005 Feb 11;280(6):4817-24. Epub 2004 Nov 30. (Medline PMID: 15572362)

Colony and Husbandry Information

These mice have been fed using a 9% breeder chow however obesity has been noted in this line and switching to a lower % fat in the diet might improve overall breeding.

Colony Surveillance Program and Current Health Reports

Mice recovered from a cryo-archive will have health surveillance performed on recipient females. Health reports will be provided prior to shipment. If you require additional health status information, please email mmrrc@missouri.edu.
Coat Color
Beige, mottled with lighter beige
MMRRC Breeding System
Sib mating
Breeding Scheme(s)
  • Homozygous Female x Homozygous Male
Generation
Unknown
Overall Breeding Performance
Good. Breeding performance is similar to that for C57BL/6J mice although occassional females fail to reproduce.
Average litter size
Unknown
Recommended wean age
4 weeks

Order Request Information

Limited quantities of breeder mice (recovered litter) are available from a cryoarchive; recovered litter usually available to ship in 3 to 4 months.

Cryopreserved material may be available upon request, please inquire to mmrrc@missouri.edu for more information.

Distribution of this strain requires submission of the MMRRC Conditions of Use (COU). A link to the COU web form will be provided via email after an order has been placed; the form should be completed then or the email forwarded to your institutional official for completion.

Additional charges may apply for any special requests. Shipping costs are in addition to the basic distribution/resuscitation fees. Information on shipping costs and any additional charges will be provided by the supplying MMRRC facility.

Click button to Request this one strain. (Use the MMRRC Catalog Search to request more than one strain.)
MMRRC Item # Description Distribution Fee / Unit (US $)
*Shipping & Handling not included*
Units Notes
000142-MU-SPERM Cryo-preserved spermatozoa $437.00 / $817.00
Non-Profit / For-Profit
Aliquot Approximate quantity3
000142-MU-RESUS Litter recovered from cryo-archive $2,016.00 / $4,103.00
Non-Profit / For-Profit
Litter Recovered litter4; additional fees for any special requests.
Cryopreserved material may be available upon request, please inquire to mmrrc@missouri.edu for more information.

1 The distribution fee covers the expense of rederiving mice from a live mouse; you will receive the resulting litter. The litter will contain at minimum one mutant carrier; the actual number of animals and the gender and genotype ratios will vary. (Typically, multiple breeder pairs can be established from the recovered litter.) Prior to shipment, the MMRRC will provide information about the animals recovered. If you anticipate or find that you need to request specific genotypes, genders or quantities of mice in excess of what is likely from a resuscitated litter, you may discuss available options and pricing with the supplying MMRRC facility.

2 An aliquot contains a sufficient number of embryos (in one or more vials or straws and based on the transfer success rate of the MMRRC facility) to transfer into one to three recipients. The MMRRC makes no guarantee concerning embryo transfer success experienced in the recipient investigator's laboratory. Neither gender nor genotype ratios are guaranteed.

3 An aliquot is one straw or vial with sufficient sperm to recover at least one litter of mice, as per provided protocols, when performed at the MMRRC facility. The MMRRC makes no guarantee concerning the success of these procedures when performed outside the MMRRC facilities.

4 The distribution fee covers the expense of resuscitating mice from the cryo-archive; you will receive the resulting litter. The litter will contain at minimum one mutant carrier; the actual number of animals and the gender and genotype ratios will vary. (Typically, multiple breeder pairs can be established from the recovered litter.) Prior to shipment, the MMRRC will provide information about the animals recovered. If you anticipate or find that you need to request specific genotypes, genders or quantities of mice in excess of what is likely from a resuscitated litter, you may discuss available options and pricing with the supplying MMRRC facility.

To request material from the MMRRC: Please fill out our on-line request form (accessible from the catalog search results page, or click the Request this Strain button in the fees section). If you have questions or need assistance completing this form, you may call Customer Service at (800) 910-2291 (in USA or Canada) or (530) 757-5710 (international calls). Before you call, please have with you: the MMRRC item number, quantity needed, Bill-to and Ship-to contact information.