JAX Mice Database - 000058 B6(Cg)-Tyr<c-2J>/J

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Strain Name:	B6(Cg)-Tyr^c-2J/J
Stock Number:	000058
Availability:	Level 2

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General Terms and Conditions

Former Name	C57BL/6J-Tyr^c-2J/J (Changed: 28-FEB-07 )
Genes & Alleles	Tyr; Tyr^c-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 System Homozygote x Homozygote (Female x Male)

Species laboratory mouse

Generation N3F8 (11-JAN-08)

Appearance
albino
Related Genotype: a/a Tyr^c-2J/Tyr^c-2J

Strain 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).
Strain Development
Tyr^c-2J arose in 1970 at The Jackson Laboratory on a C57BL/6J congenic strain carrying Tyrp1^b (Chr 4) and ep (Chr 19) when that congenic was at generation N20. Tyrp1^b and ep were eliminated from the Tyr^c-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

Tyr^c-2J/Tyr^c-2J
B6(Cg)-Tyr^c-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 Mc1r^e mutants show little damage

The following phenotype information may relate to a genetic background differing from this JAX^® Mice strain.
Tyr^c-2J/Tyr^c-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		Tyr^c-2J
Allele Name		albino 2 Jackson
Strain of Origin		B6.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
Tyr^c-2J	000664 C57BL/6J

Considerations for Choosing Controls

Genotyping Protocols

Tyr^c-2J

Colony Maintenance

Diet Information	LabDiet® 5K52/5K67

Related Strains

Strains carrying Tyr^c-2J allele

007484 B6.Cg-Tyr^c-2J Tg(Tyr)3412ARpw Tg(Sry-EGFP)92Ei/EiJ

View Strains carrying Tyr^c-2J (1 strain)

Strains carrying other alleles of Tyr

000090 129S1/Sv-Oca2⁺ Tyr⁺ Kitl^Sl-J/J

000091 129T1/Sv-Oca2⁺ Tyr^c-ch Dnd1^Ter/J

001279 129T1/Sv-Oca2⁺ Tyr^c-ch-Aft/J

005445 A.B6 Tyr⁺-Cyba^nmf333/J

005012 A.B6 Tyr⁺-Myo5a^d-l31J/J

002565 A.B6-Tyr⁺/J

000409 B10.129P-H1^b Hbb^d Tyr^c Ea7^a/(5M)oSnJ

000418 B10.129P-H1^b Tyr^c Hbb^d/(5M)nSnJ

000432 B10.C-H1^b Hbb^d Tyr^c/(41N)SnJ

000580 B10.D2/nSn-Tyr^c-4J/J

000822 B6 x 129S1/SvEi Oca2⁺ Tyr⁺-Vsx2^or-J/J

000578 B6 x STOCK Tyr^c-ch Bmp5^se +/+ Myo6^sv/J

000383 B6.C-Tyr^c H1^b Hbb^d/ByJ

007484 B6.Cg-Tyr^c-2J Tg(Tyr)3412ARpw Tg(Sry-EGFP)92Ei/EiJ

000035 B6.Cg-Tyr^c-J/J

000104 B6.Cg-Tyr^c-h/J

000054 B6.D2-Tyr^c-p/J

000899 C.B6-Tyr⁺ Hbb^s/J

000339 C3H/HeJ-Tyr^c-9J/J

001294 C3H/HeJ-Tyr^c-a/J

001002 C57BL/10SnJ-Tyr^c-11J/J

001006 CBA/J-Tyr^c-10J/J

000657 CE/J

000619 FS/EiJ

004828 FVB.129P2-Pde6b⁺ Tyr^c-ch/AntJ

007483 FVB.Cg-Tg(Tyr)3412ARpw Tg(Sry-EGFP)92Ei/EiJ

000494 J.Cg-Oca2⁺ Tyr⁺ Lyst^bg/J

002281 NFS.C58-Tyr⁺/J

004304 NOD.CBALs-Tyr⁺/LtJ

005115 NOD.FVB-Tg(INS-MT2A,Tyr)1Pne/PneJ

005114 NOD.FVB-Tg(Ins1-Cat,Tyr)25Pne/PneJ

000271 SH1/LeJ

001759 STOCK A Tyr^c Sha/J

000306 STOCK Dll3^pu + Tyr^c-ch/+ Oca2^p Tyr^c-ch/J

000006 STOCK Hk Tyr^c/J

000206 STOCK a/a Tyr^c-h/J

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-Tyr^c-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:

Tyr^c-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)-Tyr^c-2J/J*
Stock Number:	000058

Price Details

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Supply Details

Standard Supply	Level 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.
Licensing	See General Terms and Conditions below
Control Information	View Control Information in Strain Details.

General Terms and Conditions

View JAX^® Mice & Services Conditions of Use.

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.

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Go to JAX^® Mice Query Form

000090	129S1/Sv-Oca2⁺ Tyr⁺ Kitl^Sl-J/J
000091	129T1/Sv-Oca2⁺ Tyr^c-ch Dnd1^Ter/J
001279	129T1/Sv-Oca2⁺ Tyr^c-ch-Aft/J
005445	A.B6 Tyr⁺-Cyba^nmf333/J
005012	A.B6 Tyr⁺-Myo5a^d-l31J/J
002565	A.B6-Tyr⁺/J
000409	B10.129P-H1^b Hbb^d Tyr^c Ea7^a/(5M)oSnJ
000418	B10.129P-H1^b Tyr^c Hbb^d/(5M)nSnJ
000432	B10.C-H1^b Hbb^d Tyr^c/(41N)SnJ
000580	B10.D2/nSn-Tyr^c-4J/J
000822	B6 x 129S1/SvEi Oca2⁺ Tyr⁺-Vsx2^or-J/J
000578	B6 x STOCK Tyr^c-ch Bmp5^se +/+ Myo6^sv/J
000383	B6.C-Tyr^c H1^b Hbb^d/ByJ
007484	B6.Cg-Tyr^c-2J Tg(Tyr)3412ARpw Tg(Sry-EGFP)92Ei/EiJ
000035	B6.Cg-Tyr^c-J/J
000104	B6.Cg-Tyr^c-h/J
000054	B6.D2-Tyr^c-p/J
000899	C.B6-Tyr⁺ Hbb^s/J
000339	C3H/HeJ-Tyr^c-9J/J
001294	C3H/HeJ-Tyr^c-a/J
001002	C57BL/10SnJ-Tyr^c-11J/J
001006	CBA/J-Tyr^c-10J/J
000657	CE/J
000619	FS/EiJ
004828	FVB.129P2-Pde6b⁺ Tyr^c-ch/AntJ
007483	FVB.Cg-Tg(Tyr)3412ARpw Tg(Sry-EGFP)92Ei/EiJ
000494	J.Cg-Oca2⁺ Tyr⁺ Lyst^bg/J
002281	NFS.C58-Tyr⁺/J
004304	NOD.CBALs-Tyr⁺/LtJ
005115	NOD.FVB-Tg(INS-MT2A,Tyr)1Pne/PneJ
005114	NOD.FVB-Tg(Ins1-Cat,Tyr)25Pne/PneJ
000271	SH1/LeJ
001759	STOCK A Tyr^c Sha/J
000306	STOCK Dll3^pu + Tyr^c-ch/+ Oca2^p Tyr^c-ch/J
000006	STOCK Hk Tyr^c/J
000206	STOCK a/a Tyr^c-h/J

Strain Name:

B6(Cg)-Tyrc-2J/J

Stock Number:

000058

Availability:

Level 2

General Terms and Conditions

Product Information

Strain Details

Tyrc-2J/Tyrc-2J

Tyrc-2J/Tyrc-2J

Gene & Allele Details

Control Information

Genotyping Protocols

Colony Maintenance

Related Strains

Additional Web Information

Animal Health Reports

Research Applications

References

Price and Supply Information

Price Details

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Supply Details

General Terms and Conditions

The Jackson Laboratory's Genotype Promise

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

Tyr^c-2J/Tyr^c-2J

Tyr^c-2J/Tyr^c-2J