Overview

Also Known As: B6 albino, albino B6

B6(Cg)-Tyr^c-2J/J, or B6-albino mice, are C57BL/6J mice that carry a mutation in the tyrosinase gene. Pigment is completely absent from skin, hair and eyes in mice homozygous for Tyr^c-2J. This unique characteristic makes these mice ideal for creation of novel strains with targeted mutations (gene knockouts). B6-albino mice are used to generate blastocysts that can be used for microinjection of genetically modified C57BL/6J embryonic stem cells. Following implantation and gestation, resulting offspring that are chimeric for the donor embryonic stem cells and the recipient blastocyst are easily identified by coat color. This allows an easy method to create knockout mice on the C57BL/6J genetic background.

Genetic overview

Genetic Background	Generation
	Contact Technical Support (2018-07-27 00:00:00)

Tyr^c-2J

Allele Type	Gene Symbol	Gene Name
Spontaneous	Tyr	tyrosinase

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Research Applications

Research Tools
Dermatology Research
Sensorineural Research
Mouse/Human Gene Homologs

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Base Price

Starting at:

$32.45 Domestic price for female 3-week

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Details

Detailed Description

Mice homozygous for Tyr^c-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 Tyr^c-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).

Development

Tyr^c-2J arose in 1970 at The Jackson Laboratory on a C57BL/6J congenic strain carrying Tyrp1^b (Chr 4) and Hps1^ep (Chr 19) when that congenic was at generation N20. Tyrp1^b and Hps1^ep were eliminated from the Tyr^c-2J line by further backcrossing to C57BL/6J (Lane 1973). It was subsequently indicated (Hughes et al., 2007) that the Tyr^c-2J mutation arose in C57BL/6J-derived sequence since Dale1 ES cells, which derived from this strain, were found to have C57BL/6J-derived sequence flanking the Tyr locus at D7Mit350 and D7Mit323.

Control Suggestions

000664 C57BL/6J

Additional Information

Considerations for Choosing Controls

Selected References

Hughes ED; Qu YY; Genik SJ; Lyons RH; Pacheco CD; Lieberman AP; Samuelson LC; Nasonkin IO; Camper SA; Van Keuren ML; Saunders TL. 2007. Genetic variation in C57BL/6 ES cell lines and genetic instability in the Bruce4 C57BL/6 ES cell line. Mamm Genome 18(8):549-58PubMed: 17828574 MGI: J:125710
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):113-9PubMed: 6793688 MGI: J:6611

View All References

Genetics

Tyr^c-2J

Allele Symbol: Tyr^c-2J

Allele Name	albino 2 Jackson
Allele Type	Spontaneous
Allele Synonym(s)	albino 2 Jackson; Tyr^c-2J
Gene Symbol and Name	Tyr, tyrosinase
Gene Synonym(s)	albino; ATN; c; CMM8; skin/coat color 35; OCA1; OCA1A; OCAIA; skc35; skc35; SHEP3; C; Oca1
Site of Expression	Expressed in melanosomes
Strain of Origin	B6.Cg-Tyrp1^b Hps1^ep
Chromosome	7
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 band of glycosylated wild-type tyrosinase. No tyrosinase activity was found in hairbulb extracts from homozygous mice.

Disease/Phenotype

Disease Terms

Model with phenotypic similarity to human disease where etiologies are distinct. Human genes are associated with this disease. Orthologs of these genes do not appear in the mouse genotype(s).

buphthalmos

Models with phenotypic similarity to human diseases where etiology is unknown or involving genes where ortholog is unknown.

oculocutaneous albinism

Research Areas By Genotype

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

Research Tools
- Genetics Research
  - Mutagenesis and Transgenesis: Production of Transgenic Mice

Genotype: Tyr^c-2J related

Dermatology Research
- Color and White Spotting Defects
Sensorineural Research
- Retinal Degeneration
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-2J/Tyr^c-2J
involves: C57BL/6

integument phenotype

absent skin pigmentation
- mice lack detectable amounts of melanin in the hairbulbs
- mice lack pigmentation in the skin and eyes

pigmentation phenotype

absent skin pigmentation
- mice lack detectable amounts of melanin in the hairbulbs
- mice lack pigmentation in the skin and eyes

The following phenotype relates to a compound genotype created using this strain

Genotype: Tyr^c-2J/Tyr^c-2J
B6(Cg)-Tyr/J

cellular phenotype

abnormal keratinocyte apoptosis

increased cellular sensitivity to ionizing radiation
- mice show dose-dependent DNA lesion formation (cyclobutane dimers) from UV-B exposure, but wild-type or forskolin-treated Mc1r^e mutants show little damage

pigmentation phenotype

abnormal melanosome morphology
- absence of pigment in melanosomes

absent coat pigmentation
- albino coat
- nitisinone treatment has no effect on pigmentation

absent hair follicle melanin granules
- 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

ocular albinism
- total iris albinism

vision/eye phenotype

abnormal aqueous drainage system morphology
- had mild focal angle developmental defects, whereas pigmented mice had no observed defects

abnormal eye physiology
- resistant to light damage as compared to albino BALB/cByJ

abnormal intraocular pressure
- increased pressure as compared to pigmented C57BL/6J

abnormal retina morphology
- increased surface area of temporal retina, as well as additional sectors during E11-13
- increased total number of cells in temporal retina during E11-13
- sustained, early production of ipsilateral retinal ganglion cells up to E14

abnormal retinal ganglion layer morphology
- beginning at E11 through E16, cells exhibit smaller size and abnormal packing and organization

abnormal retinal photoreceptor morphology
- Background Sensitivity - mean synaptic ribbon length is decreased in comparison to C57BL/6J
- mean synaptic ribbon length is decreased in comparison to C57BL/6J

abnormal vision
- dark-adapted threshold s are elevated (decreased sensitivity) in comparison to C57BL/6J

decreased a wave amplitude
- reduction in a-wave and b-wave amplitude in young adults as demonstrated by electroretinogram

decreased b wave amplitude
- reduction in a-wave and b-wave amplitude in young adults as demonstrated by electroretinogram

decreased retinal photoreceptor cell number
- increased apoptosis in outer nuclear layer during adulthood (2-12 months), then decreasing to control levels

ocular albinism
- total iris albinism

retinal degeneration

integument phenotype

abnormal keratinocyte apoptosis

absent coat pigmentation
- albino coat
- nitisinone treatment has no effect on pigmentation

absent hair follicle melanin granules
- 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

nervous system phenotype

abnormal retinal photoreceptor morphology
- Background Sensitivity - 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
- increased apoptosis in outer nuclear layer during adulthood (2-12 months), then decreasing to control levels

Phenotype Information

References

Hughes ED; Qu YY; Genik SJ; Lyons RH; Pacheco CD; Lieberman AP; Samuelson LC; Nasonkin IO; Camper SA; Van Keuren ML; Saunders TL. 2007. Genetic variation in C57BL/6 ES cell lines and genetic instability in the Bruce4 C57BL/6 ES cell line. Mamm Genome 18(8):549-58PubMed: 17828574 MGI: J:125710
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):113-9PubMed: 6793688 MGI: J:6611

Additional References

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
Porter S; Mintz B. 1991. Multiple alternatively spliced transcripts of the mouse tyrosinase-encoding gene. Gene 97(2):277-82PubMed: 1900251 MGI: J:11014
Schuster-Gossler K; Lee AW; Lerner CP; Parker HJ; Dyer VW; Scott VE; Gossler A; Conover JC. 2001. Use of coisogenic host blastocysts for efficient establishment of germline chimeras with C57BL/6J ES cell lines. Biotechniques 31(5):1022-4, 1026PubMed: 11730008 MGI: J:144015
Zurita E; Chagoyen M; Cantero M; Alonso R; Gonzalez-Neira A; Lopez-Jimenez A; Lopez-Moreno JA; Landel CP; Benitez J; Pazos F; Montoliu L. 2011. Genetic polymorphisms among C57BL/6 mouse inbred strains. Transgenic Res 20(3):481-9PubMed: 20506040 MGI: J:160203
Le Fur N; Kelsall SR; Mintz B. 1996. Base substitution at different alternative splice donor sites of the tyrosinase gene in murine albinism. Genomics 37(2):245-8PubMed: 8921397 MGI: J:36008
Hofele K; Sedelis M; Auburger GW; Morgan S; Huston JP; Schwarting RK. 2001. Evidence for a dissociation between MPTP toxicity and tyrosinase activity based on congenic mouse strain susceptibility. Exp Neurol 168(1):116-22PubMed: 11170726 MGI: J:67792
Rikke BA; Simpson VJ; Montoliu L; Johnson TE. 2001. No effect of albinism on sedative-hypnotic sensitivity to ethanol and anesthetics. Alcohol Clin Exp Res 25(2):171-6PubMed: 11236829 MGI: J:68230
Nusinowitz S; Nguyen L; Radu R; Kashani Z; Farber D; Danciger M. 2003. Electroretinographic evidence for altered phototransduction gain and slowed recovery from photobleaches in albino mice with a MET450 variant in RPE65. Exp Eye Res 77(5):627-38PubMed: 14550405 MGI: J:86186
Bravo-Nuevo A; Walsh N; Stone J. 2004. Photoreceptor degeneration and loss of retinal function in the C57BL/6-C2J mouse. Invest Ophthalmol Vis Sci 45(6):2005-12PubMed: 15161869 MGI: J:92276
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
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-2J related

Technical Support

Contact Technical Support

Genotyping Protocols
- Pyrosequencing: Tyr^c-2J
- End Point Analysis: Tyr^c-2J alternative 1
- Genotyping resources and troubleshooting
Dietary Information
- LabDiet® 5K52 formulation (6% fat)
Breeding Considerations

This strain is a good breeder.
- Additional Breeding and Husbandry Support
Mating System
- Homozygote x Homozygote
Appearance
- albino
  Related Genotype: a/a Tyr^c-2J/Tyr^c-2J
Citation
When using the B6(Cg)-Tyr^c-2J/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #000058 in your Materials and Methods section.

Animal Health Reports

Facility Barrier Level Descriptions

RB10 (Maximum)

AX30 (Maximum)

Pricing & Availability

Readily Available

Domestic
International

Live Mouse

Age

Genotype

Price

weeks

Cryorecovery - Pricing

Service	Genotype	Price
	Homozygous for a and Tyr<c-2J>

We will fulfill your order by providing at least two carriers for each strain ordered. The total number, sex, and genotypes provided will vary, although typically 8 or more animals are provided. Please check genotypes which will be recovered. While the genotypes of all animals produced will be communicated to you prior to scheduling shipment, the genotypes of animals provided may not reflect the mating scheme and genotypes described in the strain description. Animals are typically ready to ship in 11-14 weeks. If a second recovery is required to produce the minimum number of animals, then delivery time would increase to approximately 25 weeks. If we fail to produce animals of the correct genotype, you will not be charged. We cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.

Cryorecovery to establish a Dedicated Supply for greater quantities of mice. Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation.

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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.

Terms Of Use

Terms of Use

General Terms and Conditions

Questions about Terms of Use

Licensing Information

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Email: TechTran@jax.org

JAX® Mice, Products & Services Conditions of Use

"MICE" means mouse strains, their progeny derived by inbreeding or crossbreeding, unmodified derivatives from mouse strains or their progeny supplied by The Jackson Laboratory ("JACKSON"). "PRODUCT(S)" means biological materials supplied by JACKSON, and their derivatives. "SERVICES" means projects conducted by JACKSON for other parties that may include but are not limited to the use of MICE or PRODUCTS. "RECIPIENT" means each recipient of MICE, PRODUCTS, or SERVICES provided by JACKSON including each institution, its employees and other researchers under its control. MICE or PRODUCTS shall not be: (i) used for any purpose other than internal research, (ii) sold or otherwise provided to any third party for any use, or (iii) provided to any agent or other third party to provide breeding or other services. Acceptance of MICE, PRODUCTS or SERVICES from JACKSON shall be deemed as agreement by RECIPIENT to these conditions, and departure from these conditions requires JACKSON’s prior written authorization.

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In no event shall JACKSON, its trustees, directors, officers, employees, and affiliates be liable for any causes of action or damages, including any direct, indirect, special, or consequential damages, arising out of the provision of MICE, PRODUCTS, or SERVICES, including economic damage or injury to property and lost profits, and including any damage arising from acts or negligence on the part of JACKSON, its agents or employees. Unless prohibited by law, in purchasing or receiving MICE, PRODUCTS, or SERVICES from JACKSON, purchaser or recipient, or any party claiming by or through them, expressly releases and discharges JACKSON from all such causes of action or damages, and further agrees to defend and indemnify JACKSON from any costs or damages arising out of any third party claims.

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Also Known As: B6 albino, albino B6

Genetic overview

Research Applications

Base Price

Detailed Description

Development

Control Suggestions

Additional Information

Selected References

Tyrc-2J

Allele Symbol: Tyrc-2J

Disease Terms

Model with phenotypic similarity to human disease where etiologies are distinct. Human genes are associated with this disease. Orthologs of these genes do not appear in the mouse genotype(s).

Models with phenotypic similarity to human diseases where etiology is unknown or involving genes where ortholog is unknown.

Research Areas By Genotype

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

Genotype: Tyrc-2J related

Mammalian Phenotype Terms by Genotype

Genotype: Tyrc-2J/Tyrc-2Jinvolves: C57BL/6

integument phenotype

pigmentation phenotype

Genotype: Tyrc-2J/Tyrc-2JB6(Cg)-Tyr/J

cellular phenotype

pigmentation phenotype

vision/eye phenotype

integument phenotype

nervous system phenotype

Phenotype Information

References

Additional References

Additional - Tyrc-2J related

Genotyping Protocols

Dietary Information

Breeding Considerations

Mating System

Appearance

Citation

Animal Health Reports

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-2J

Allele Symbol: Tyr^c-2J

Genotype: Tyr^c-2J related

Genotype: Tyr^c-2J/Tyr^c-2J
involves: C57BL/6

Genotype: Tyr^c-2J/Tyr^c-2J
B6(Cg)-Tyr/J

Additional - Tyr^c-2J related