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 (Null/Knockout)	Tyr	tyrosinase

Cox7a2l^s

Allele Type	Gene Symbol	Gene Name
Not Applicable (Not Specified)	Cox7a2l	cytochrome c oxidase subunit 7A2 like

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Research Applications

Research Tools
Dermatology Research
Sensorineural Research
Mouse/Human Gene Homologs

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Base Price

Starting at:

$33.75 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 (Null/Knockout)
Allele Synonym(s)
Gene Symbol and Name	Tyr, tyrosinase
Gene Synonym(s)
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 coding nucleotide 230 resulting in an amino acid change from arginine to leucine at residue 77 (p.R77L) which lies in the highly conserved DDRE sequence. Nucleotide 230 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.

Cox7a2l^s

Allele Symbol: Cox7a2l^s

Allele Name	short
Allele Type	Not Applicable (Not Specified)
Allele Synonym(s)	SCAF1¹¹¹
Gene Symbol and Name	Cox7a2l, cytochrome c oxidase subunit 7A2 like
Gene Synonym(s)
Strain of Origin	multiple strains
Chromosome	17
General Note	Querying the sequences of the Sanger Mouse Genomes Project reveals that the short allele with its 6 bp deletion exists in C57BL/6J, C57BL/10J, C57BL/6NJ, C58/J, BALB/cJ, C3H/HeH, 129S5/SvEvBrd, NZW/LacZ, and SEA/GnJ, but the long allele lacking the deletion exists in 129S1/SvImJ, A/J, AKR/J, BTBR T⁺ Itpr3^tf/J, BUB/BnJ, C3H/HeJ, C57BR/cdJ, C57L/J, CAST/EiJ, CBA/J, DBA/1J, DBA/2J, FVB/NJ, I/LnJ, KK/HiJ, LEWES/EiJ, LP/J, MOLF/EiJ, NOD/ShiLtJ, NZB/BlNJ, NZO/HlLtJ, PWK/PhJ, RF/J, SPRET/EiJ, ST/bJ, WSB/EiJ, ZALENDE/EiJ.
Molecular Note	This allele contains a 6 bp microdeletion causing the loss of two amino acids and truncating the protein to 111 amino acids instead of 113 amino acids. It is found in BALB/cAnCrl, BALB/cJ, C57BL/6Cr, C57BL/6JCrl, C57BL/6JOlaHsd, C57BL/6NCrl, C57BL/6NJcl, C57BL/6NHsd, C57BL/6NTac, C57BL/6NJ, B6(CG)-Tyr/J, C57BL/6JClr, C57BL/6JArc, C57BL/6JJcl, C57BL/6JJmsSlc, C57BL/6JOla, C57BL/6JOlaHsd, C57BL/6JRcc, C57BL/6JRccHsd, C57BL/6JBom, and C57BL/6JBomTac 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 Phenotype

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

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

ocular albinism
- total iris albinism

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

vision/eye phenotype

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

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

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

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

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

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

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

ocular albinism
- total iris albinism

retinal degeneration

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

integument phenotype

abnormal keratinocyte apoptosis

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

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

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
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
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
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
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
Porter S; Mintz B. 1991. Multiple alternatively spliced transcripts of the mouse tyrosinase-encoding gene. Gene 97(2):277-82PubMed: 1900251 MGI: J:11014
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
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
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

Additional - Cox7a2l^s related

Additional - Tyr^c-2J related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Pyrosequencing:Tyr
- 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)

AX27 (Maximum)

EM03 (Maximum)

Pricing & Availability

Readily Available

Domestic
International

Live Mouse

Age

Genotype

Price

weeks

Cryorecovery - Pricing

Service/Product	Description	Price
> >	Homozygous for a and Tyr<c-2J>, 1 pair minimum

Related Products and Services

Mouse ES Cells	B6(Cg)-TKyr<c-2J>/J-PRX-B6-albino #1 mES cells	$1095.00
Mouse ES Cells	B6(Cg)-TKyr<c-2J>/J-PRX-B6-albino #1 mES cells	$1095.00
Mouse ES Cells	B6(Cg)-TKyr<c-2J>/J-PRX-B6-albino #1 mES cells	$1095.00
Mouse ES Cells	B6(Cg)-TKyr<c-2J>/J-PRX-B6-albino #1 mES cells	$1095.00

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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. 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

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

Cox7a2ls

Allele Symbol: Cox7a2ls

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 Phenotype

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 - Cox7a2ls related

Additional - Tyrc-2J related

Genotyping Protocols

Dietary Information

Breeding Considerations

Mating System

Appearance

Citation

Animal Health Reports

Live Mouse

Cryorecovery - Pricing

Related Products and Services

Payment Terms and Conditions

The Jackson Laboratory's Genotype Promise

Terms Of Use

Licensing Information

Tyr^c-2J

Allele Symbol: Tyr^c-2J

Cox7a2l^s

Allele Symbol: Cox7a2l^s

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 - Cox7a2l^s related

Additional - Tyr^c-2J related