Strain Detail Sheet

Phenotype:
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-Tyr^c-2J/Tyr^c-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.

Characteristics of the Alleles/Stocks Albino-locus mutations occur frequently, and many deletions have been identified and studied, primarily because of their value for mapping that region of chromosome 7 and the study of included gene loci encoding various other enzymes. Four papers authored by Lee Russell discuss many of these that occurred at Oak Ridge National Laboratories. The specific deletions selected for inclusion in the pigmentation colony were selected because the mouse heterozygous for these is deleted at the albino locus but not at the other nearby loci. In addition, MMRRC:009965, a homozygous lethal of newborn mice, has been used to study defects of glucocorticoid (Goldfield et al., 1983) and is currently in use to study optic development. MMRRC:009964 is an early postimplantion homozygous lethal that deletes the albino locus plus other loci adjacent to the albino locus, but on its opposite end. Lewis et al (1976) used mice homozygous for this deletion to study early implantation. As stated, mice heterozygous for the two overlapping deletions complement the various lethal defects and are healthy, but they do lack pigment and therefore exhibit abnormal development of the optic nerve.

Mammalian Phenotype Terms:
      assigned by genotype

The following phenotype information may relate to one or more alleles on a genetic background differing from this MMRRC strain.

Tyr^c-14CoS/Tyr^c-14CoS

• lethality-prenatal/perinatal
• neonatal lethality (MGI Ref IDs J:23420, J:100221)
• (MGI Ref ID J:100221)
• (MGI Ref ID J:23420)

Strain Type: Non-Inbred Stock

Founder genetic background:

Strain genetic background:

Strain Development:
This stock and MMRRC:009964 were received from Salome Gluecksohn-Waelsch. Both she and Lamoreux failed in efforts to backcross the stocks onto C57BL/6J, presumably because of deficiencies in the portion of the genome that is complementing. They have been maintained by mating heterozygotes within each stock, with occasional backcrosses onto C57BL/6J.

• Albinism
• Development of optic nerve
• Visual Defects (Blindness)
• Genetic Controls over Pigmentation of Eyes and Skin
• Failure of Melanogenesis
• Neural Crest Development

Donor: Lynn Lamoreux, Ph.D., Texas A&M University

Primary Reference:

Goldfeld AE, Firestone GL, Shaw PA, Gluecksohn-Waelsch S. Recessive lethal deletion on mouse chromosome 7 affects glucocorticoid receptor binding activities. Proc Natl Acad Sci U S A. 1983 Mar;80(5):1431-4. (Medline PMID: 6572398)

Lewis SE, Turchin HA, Gluecksohn-Waelsch S. The developmental analysis of an embryonic lethal (C6H) in the mouse. J Embryol Exp Morphol. 1976 Oct;36(2):363-71. (Medline PMID: 1033984)

Coat color: See phenotype description and photo

Other:

MMRRC Breeding System: Backcross of heterozygous breeder to MMRRC:000144

Breeding Scheme(s):

• Homozygous female ( MMRRC:000144) x Heterozygous male ( MMRRC:009965)
• Heterozygous female ( MMRRC:009965) x Homozygous male ( MMRRC:000144)

Generation: N>10

Overall Breeding Performance: Good

Donating investigator recommends feeding breeder diet with 9% fat

This deletion is homozygous lethal and are carried heterozygous with chinchilla. Mice that are to be used for mating should be Tyr^c-ch/Tyr^c-deletion, which are paler in color than mice homozygous for chinchilla. These stocks are not inbred. For most purposes the chinchilla littermates can be used as controls.

* 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 $)	Units	Notes
009965-MU-RESUS Litter recovered from cryo-archive	$2,022.00 Non-Profit $4,109.00 For-Profit	Litter	Recovered litter1; additional fees for any special requests.
009965-MU-SPERM Cryo-preserved spermatozoa	$437.00 Non-Profit $817.00 For-Profit	Aliquot	Approximate quantity.2
009965-MU-EMBRYO Cryo-preserved embryos	$1,038.00 Non-Profit $2,621.00 For-Profit	Aliquot	Approximate quantity3: 20-40 embryos / aliquot

¹ 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 breedable 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 sufficient material (volume and concentration) for at least two IVF or several artificial inseminations (based on our procedures). The MMRRC makes no guarantee concerning success of these procedures when performed outside the MMRRC facilities.

³ An aliquot contains a sufficient number of embryos (in one or more vials and based on the transfer success rate of the MMRRC facility) to transfer to at least two recipients. The MMRRC makes no guarantee concerning embryo transfer success experienced in the recipient investigator's laboratory. Neither gender nor genotype ratios are guaranteed.