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Strain Name:

B6(Cg)-Tyrc-2J/J

Stock Number:

000058

Availability:

Level 2


General Terms and Conditions

Former Name      C57BL/6J-Tyrc-2J/J    (Changed: 28-FEB-07 )
Genes & Alleles   Tyr;   Tyrc-2J;


Product Information

Strain Details

Type JAX® GEMM® Strain - Coisogenic
Additional information on JAX® GEMM® Strains.
Type JAX® GEMM® Strain - Mutant Strain
Type JAX® GEMM® Strain - Spontaneous Mutation
Mating SystemHomozygote x Homozygote         (Female x Male)
Specieslaboratory mouse
GenerationN3F8 (11-JAN-08)

Appearance
albino
Related Genotype: a/a Tyrc-2J/Tyrc-2J

Strain Description
Mice homozygous for Tyrc-2J are phenotypically identical to homozygotes for the classic albino allele. Pigment is completely absent from skin, hair and eyes. While Tyr mRNA levels of Tyrc-2J homozygotes are similar to those of wild type mice, there is virtually no tyrosinase protein present (Le Fur et al. 1996). Both homozygote and heterozygote mice are highly resistant to light damage and exhibit retinal degeneration (increased photoreceptor death) into young adulthood. Degeneration does not continue in adult mice (Bravo-Nuevo et al. 2004).

Strain Development
Tyrc-2J arose in 1970 at The Jackson Laboratory on a C57BL/6J congenic strain carrying Tyrp1b (Chr 4) and ep (Chr 19) when that congenic was at generation N20. Tyrp1b and ep were eliminated from the Tyrc-2J line by further backcrossing to C57BL/6J (Lane 1973).

Related Disease (OMIM) Terms

Glaucoma 3, Primary Congenital, A; GLC3A
Mammalian Phenotype Terms assigned by genotype

Tyrc-2J/Tyrc-2J

        B6(Cg)-Tyrc-2J/J
  • skin/coat/nails phenotype
  • abnormal keratinocyte apoptosis (MGI Ref ID J:112959)
  • absent coat pigmentation (MGI Ref ID J:27522)
    • albino coat
  • absent melanin granules in hair follicle (MGI Ref ID J:6611)
    • forskolin treatment does not protect mice from UV effects; numbers of apoptotic epidermal keratinocytes are similar to those in vehicle-treated mutants
  • absent skin pigmentation (MGI Ref ID J:36008)
  • pigmentation phenotype
  • absent coat pigmentation (MGI Ref ID J:27522)
    • albino coat
  • absent melanin granules in hair follicle (MGI Ref ID J:6611)
    • forskolin treatment does not protect mice from UV effects; numbers of apoptotic epidermal keratinocytes are similar to those in vehicle-treated mutants
  • absent skin pigmentation (MGI Ref ID J:36008)
  • vision/eye phenotype
  • abnormal aqueous drainage system morphology (MGI Ref ID J:82280)
    • had mild focal angle developmental defects, whereas pigmented mice had no observed defects
  • abnormal eye physiology (MGI Ref ID J:99553)
    • resistant to light damage as compared to albino BALB/cByJ
    • abnormal eye electrophysiology (MGI Ref ID J:92276)
      • reduction in a-wave and b-wave amplitude in young adults as demonstrated by electroretinogram
    • abnormal intraocular pressure (MGI Ref ID J:82879)
      • increased pressure as compared to pigmented C57BL/6J
    • abnormal vision (MGI Ref ID J:99554)
      • dark-adapted threshold s are elevated (decreased sensitivity) in comparison to C57BL/6J
  • abnormal retina morphology (MGI Ref ID J:77026)
    • increased total number of cells in temporal retina during E11-13
    • sustained, early production of ipsilateral retinal ganglion cells up to E14
    • increased surface area of temporal retina, as well as additional sectors during E11-13
    • abnormal retinal ganglion layer morphology (MGI Ref ID J:77026)
      • beginning at E11 through E16, cells exhibit smaller size and abnormal packing and organization
    • abnormal retinal photoreceptor morphology (MGI Ref ID J:99554)
      • mean synaptic ribbon length is decreased in comparison to C57BL/6J mean synaptic ribbon length is decreased in comparison to C57BL/6J
      • decreased retinal photoreceptor cell number (MGI Ref ID J:92276)
        • increased apoptosis in outer nuclear layer during adulthood (2-12 months), then decreasing to control levels
    • retinal degeneration (MGI Ref ID J:92276)
  • nervous system phenotype
  • abnormal retinal photoreceptor morphology (MGI Ref ID J:99554)
    • mean synaptic ribbon length is decreased in comparison to C57BL/6J mean synaptic ribbon length is decreased in comparison to C57BL/6J
    • decreased retinal photoreceptor cell number (MGI Ref ID J:92276)
      • increased apoptosis in outer nuclear layer during adulthood (2-12 months), then decreasing to control levels
  • cellular phenotype
  • increased cellular sensitivity to ionizing radiation (MGI Ref ID J:112959)
    • mice show dose-dependent DNA lesion formation (cyclobutane dimers) from UV-B exposure, but wild type or forskolin-treated Mc1re mutants show little damage

The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.

Tyrc-2J/Tyrc-2J

        Background Not Specified
  • pigmentation phenotype
  • absent skin pigmentation (MGI Ref ID J:6611)
    • mice lack pigmentation in the skin and eyes
    • mice lack detectable amounts of melanin in the hairbulbs
  • skin/coat/nails phenotype
  • absent skin pigmentation (MGI Ref ID J:6611)
    • mice lack pigmentation in the skin and eyes
    • mice lack detectable amounts of melanin in the hairbulbs

Gene & Allele Details

Allele Symbol Tyrc-2J
Allele Name albino 2 Jackson
Strain of OriginB6.Cg-Tyrp1 Hps1
Gene Symbol and Name Tyr, tyrosinase
Chromosome 7
Gene Common Name(s) C; OCA1A; OCAIA; SHEP3; albino; c; skc35; skin/coat color 35;
Molecular Note This mutation has a G to T base change at nucleotide 291 resulting in an amino acid change from arginine to leucine at residue 77 which lies in the highly conserved DDRE sequence. Nucleotide 291 is at the alternative 5' splice donor site for exon 1 and this allele does not produce the 1a or 1b subset of tyrosinase transcripts but does produce a significant increase in 1c and 1d transcripts. Western blots of homozygous mutant skin extracts demostrate the nearly complete absence of the broad 76-84 kDa bandof glycosylated wild-type tyrosinase. No tyrosinase activity was found in hairbulb extracts from homozygous mice. [MGI Ref ID J:36008] [MGI Ref ID J:6611]

Control Information

  Allele   Control
 Tyrc-2J  000664 C57BL/6J
 
  Considerations for Choosing Controls

Genotyping Protocols

Tyrc-2J

Colony Maintenance

Diet Information LabDiet® 5K52/5K67

Related Strains

Strains carrying   Tyrc-2J allele
007484   B6.Cg-Tyrc-2J Tg(Tyr)3412ARpw Tg(Sry-EGFP)92Ei/EiJ
View Strains carrying   Tyrc-2J     (1 strain)

View Strains carrying other alleles of Tyr     (36 strains)

Additional Web Information

Genetic Quality Control Annual Report
JAX Notes, Fall 2003; 491. Use of Albino B6 (C57BL/6J-Tyrc-2J) Mice as Blastocyst Hosts for B6-derived ES Cells

Animal Health Reports

Room Number           AX6
Room Number           AX7

Research Applications

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

Tyrc-2J related

Dermatology Research
Color and White Spotting Defects

Mouse/Human Gene Homologs
albinism, tyrosine negative

Sensorineural Research
Retinal Degeneration

References

Selected Reference(s)

Townsend D; Witkop CJ Jr; Mattson J. 1981. Tyrosinase subcellular distribution and kinetic parameters in wild type and C-locus mutant C57BL/6J mice. J Exp Zool 216(1):113-9. [PubMed: 6793688]  [MGI Ref ID J:6611]

Additional References

Price and Supply Information

Strain Name: B6(Cg)-Tyrc-2J/J
Stock Number: 000058

Price Details

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Supply Details

Standard SupplyLevel 2. Up to 100 mice. Larger quantities or custom orders arranged upon request.
Supply Notes Shipped at a specific age in weeks. Mice at a precise age in days, littermates and retired breeders are also available.
Strains that must be genotyped are not available until five to seven weeks of age.
Genomic DNA is available for this strain from the Mouse DNA Resource.
LicensingSee General Terms and Conditions below  
Control InformationView Control Information in Strain Details.

General Terms and Conditions

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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.
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