Description

The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.

Strain Information

Type Mutant Stock; Spontaneous Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse Generation F60p Generation Definitions

Appearance
white with hooked tail and displaced anus
Related Genotype: a/a Tyr^c/Tyr^c Hk/+ or a/a Tyr^c/Tyr^c Hk/Hk

Description
While mice carrying the Hk mutation often have a hooked curl at the end of a shortened tail, this mutation may more consistently result in a displaced anus that is positioned posterior to the normal site and is more slit-shaped than circular. In some instances the anus has been located in the beginning of the tail and a depression was found to extend partway down the ventral side of the tail (Holman, 1951). The Hk mutation is semidominant with homozygotes often showing a shorter, more affected tail than heterozygotes (P.W. Lane Personal Communication).

Development
The Hk mutation arose spontaneously. It was identified in 1949 in a piebald shaker stock and was sent from SP Holman to GD Snell in 1951. This was subsequently crossed once to a rex (Re) stock, crossed three times to C57BL/6, crossed once to AKR, crossed twice to A/Sn, and then crossed once to C57BL/6J before PW Lane inbred the line by sibling mating. This resulted in an inbred background homozygous for Tyr^c and a and segregating for Hk. In 1978 embryos were generated for cryopreservation by breeding Hk/+ females with Hk/Hk males when the strain was at F59.

Control Information

	Control
	Heterozygote from the colony
Considerations for Choosing Controls

Related Strains

Strains carrying   Tyr^c allele

001017	AKXD10/TyJ
000765	AKXD13/TyJ
000954	AKXD15/TyJ
000958	AKXD16/TyJ
001093	AKXD18/TyJ
001062	AKXD21/TyJ
000947	AKXD22/TyJ
000969	AKXD24/TyJ
000777	AKXD6/TyJ
000763	AKXD9/TyJ
000409	B10.129P-H1b Hbbd Tyrc Ea7a/(5M)oSnJ
000418	B10.129P-H1b Tyrc Hbbd/(5M)nSnJ
000432	B10.C-H1b Hbbd Tyrc/(41N)SnJ
000383	B6.C-Tyrc H1b Hbbd/ByJ
001759	STOCK A Tyrc Sha/J
018129	STOCK Fah1R Tyrc/RJ

View Strains carrying   Tyr^c     (16 strains)

Strains carrying other alleles of Tyr

000090	129S1/Sv-Oca2+ Tyr+ KitlSl-J/J
000091	129T1/Sv-Oca2+ Tyrc-ch Dnd1Ter/J
005445	A.B6 Tyr+-Cybanmf333/J
005012	A.B6 Tyr+-Myo5ad-l31J/J
002565	A.B6-Tyr+/J
000580	B10.D2/nSn-Tyrc-4J/J
000822	B6 x 129S1/SvEi Oca2+ Tyr+-Vsx2or-J/J
000578	B6 x STOCK Tyrc-ch Bmp5se +/+ Myo6sv/J
017614	B6(Cg)-Tyrc-2J Tg(UBC-mCherry)1Phbs/J
000058	B6(Cg)-Tyrc-2J/J
008647	B6.129P2(Cg)-Trpa1tm1Kykw Tyrc-2J/J
013590	B6.Cg-Braftm1Mmcm Ptentm1Hwu Tg(Tyr-cre/ERT2)13Bos/BosJ
003819	B6.Cg-Per2tm1Brd Tyrc-Brd/J
007484	B6.Cg-Tyrc-2J Tg(Tyr)3412ARpw Tg(Sry-EGFP)92Ei/EiJ
000035	B6.Cg-Tyrc-J/J
000104	B6.Cg-Tyrc-h/J
012328	B6.Cg-Tg(Tyr-cre/ERT2)13Bos/J
000054	B6.D2-Tyrc-p/J
000899	C.B6-Tyr+ Hbbs/J
000339	C3H/HeJ-Tyrc-9J/J
001294	C3H/HeJ-Tyrc-a/J
001002	C57BL/10SnJ-Tyrc-11J/J
001006	CBA/J-Tyrc-10J/J
000657	CE/J
000619	FS/EiJ
004624	FVB.129P2-Pde6b+ Tyrc-ch Fmr1tm1Cgr/J
004828	FVB.129P2-Pde6b+ Tyrc-ch/AntJ
007483	FVB.Cg-Tg(Tyr)3412ARpw Tg(Sry-EGFP)92Ei/EiJ
000494	J.Cg-Oca2+ Tyr+ Lystbg/J
002281	NFS.C58-Tyr+/J
004304	NOD.CBALs-Tyr+/LtJ
000271	SH1/LeJ
000306	STOCK Dll3pu + Tyrc-ch/+ Oca2p Tyrc-ch/J
000206	STOCK a/a Tyrc-h/J

View Strains carrying other alleles of Tyr     (34 strains)

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI

- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested. Albinism, Ocular, with Sensorineural Deafness   (TYR) Albinism, Oculocutaneous, Type IA; OCA1A   (TYR) Albinism, Oculocutaneous, Type IB; OCA1B   (TYR)

View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI

      assigned by genotype

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

Hk/Hk

        Background Not Specified

• digestive/alimentary phenotype
• abnormal anus morphology   (MGI Ref ID J:14985)
• limbs/digits/tail phenotype
• abnormal caudal vertebrae morphology   (MGI Ref ID J:14985)
• kinked tail   (MGI Ref ID J:14985)
• short tail   (MGI Ref ID J:14985)
• skeleton phenotype
• abnormal caudal vertebrae morphology   (MGI Ref ID J:14985)

Hk/Hk⁺

        Background Not Specified

• digestive/alimentary phenotype
• abnormal anus morphology
  • the often slit-shaped anus is posterior to normal location, often on the tail, extending sometimes to half the length of the tail   (MGI Ref ID J:14985)
  • mice with this feature may or may not have a short tail or a hook-tail   (MGI Ref ID J:14985)
  • anus tends to be bare rather than surrounded by hair   (MGI Ref ID J:14985)
• limbs/digits/tail phenotype
• abnormal caudal vertebrae morphology   (MGI Ref ID J:14985)
• kinked tail
  • end of tail is fishhook-like   (MGI Ref ID J:14985)
  • length and degree of bending is variable   (MGI Ref ID J:14985)
• short tail
  • this feature is variable   (MGI Ref ID J:14985)
• skeleton phenotype
• abnormal caudal vertebrae morphology   (MGI Ref ID J:14985)

View Research Applications

Research Applications

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

Hk related

Developmental Biology Research
Skeletal Defects

Tyr^c related

Dermatology Research
Color and White Spotting Defects
      oculocutaneous albinism, type I

Mouse/Human Gene Homologs
albinism, tyrosine negative

Genes & Alleles

Gene & Allele Information provided by MGI

Allele Symbol		Hk
Allele Name		hook
Allele Type		Spontaneous
Strain of Origin		piebald shaker stock
Gene Symbol and Name		Hk, hook
Chromosome		8
Allele Symbol		Tyrc
Allele Name		albino
Allele Type		Spontaneous
Common Name(s)		c;
Strain of Origin		old mutant of the mouse fancy
Gene Symbol and Name		Tyr, tyrosinase
Chromosome		7
Gene Common Name(s)		C; CMM8; OCA1A; OCAIA; SHEP3; albino; c; skc35; skin/coat color 35;
General Note		Tyrc, albino. This very old mutant was already known in Greek and Roman times. Hair and eyes are completely devoid of pigment (J:5436, J:5001, J:30725). The albino mutation affects the amount of tyrosinase, and thus of melanin, in pigment cells, but does not interfere with the production of pigment cells themselves (J:12173, J:13092). Melanocytes with melanosomes showing normal fine structure occur in the retina and hair follicles. Pigment granules are smaller and fewer than normal and completely lack melanin (J:5346, J:5001, J:30725). Tyrosinase is almost absent (J:12173).Although Tyr is the structural gene for tyrosinase, some albino mutations may affect tyrosinase enzyme regulation rather than structure (J:6611), suggesting that these mutations affect tyrosinase inhibition (J:5346), presumably via control regions of the gene. All the mutant alleles are recessive to wild-type in phenotype, but heterozygotes with wild-type produce intermediate amounts of tyrosinase (J:12173).Albino-locus mutants with lightly pigmented eyes have a reduced number of fibers of the optic nerve going to the ipsilateral lateral geniculate nucleus of the brain. This is probably a secondary effect of reduced tyrosinase activity or amount of pigment in the pigmentepithelium, since genes at other loci that reduce eye pigmentation also cause the same anomaly (J:5436, J:6064).Abnormal retinal pathways disrupted at the optic chiasm that occur in albinism can be corrected with a Tyr normal transgene (J:22320).Lipofuscin is a terminal oxidation product pigment that accumulates with age. In a cross of C57BL/6J and BALB/cJ, which differ in cardiac deposition of the pigment, this trait segregated with albinism, and is controlled by the Tyr locus (J:15460).Tyrc homozygotes do not perform as well as normal in a number of behavioral tests. It is likely that this effect is mediated, at least in part, by defective vision resulting from lack of retinal pigment (J:5470, J:5360, J:5378).
Molecular Note		The specific mutation in the albino allele is a G to C transversion causing an amino acid change from cysteine to serine. This mutation introduces a DdeI enzyme restriction site. [MGI Ref ID J:10889] [MGI Ref ID J:40223]

Genotyping

Genotyping Information

Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Additional References

Hk related

Holman SP. 1951. The hook-tailed mouse J Hered 42:305-06.  [MGI Ref ID J:14985]

Tyr^c related

Aydin IT; Hummler E; Smit NP; Beermann F. 2012. Coat color dilution in mice because of inactivation of the melanoma antigen MART-1. Pigment Cell Melanoma Res 25(1):37-46. [PubMed: 21943097]  [MGI Ref ID J:194886]

Bharti K; Liu W; Csermely T; Bertuzzi S; Arnheiter H. 2008. Alternative promoter use in eye development: the complex role and regulation of the transcription factor MITF. Development 135(6):1169-78. [PubMed: 18272592]  [MGI Ref ID J:132153]

Cattanach BM; Rasberry C. 1988. Dark-eyed albinism, c<44H>. Mouse News Lett 81:64.  [MGI Ref ID J:12721]

Chen J; Reifsnyder PC; Scheuplein F; Schott WH; Mileikovsky M; Soodeen-Karamath S; Nagy A; Dosch MH; Ellis J; Koch-Nolte F; Leiter EH. 2005. 'Agouti NOD': identification of a CBA-derived Idd locus on Chromosome 7 and its use for chimera production with NOD embryonic stem cells. Mamm Genome 16(10):775-83. [PubMed: 16261419]  [MGI Ref ID J:102639]

Coleman DL. 1962. Effect of genic substitution on the incorporation of tyrosine into the melanin of mouse skin. Arch Biochem Biophys 96:562-8. [PubMed: 13880466]  [MGI Ref ID J:12173]

Detlefsen JA. 1921. A new mutation in the house mouse Am Naturalist 55:469-73.  [MGI Ref ID J:34484]

Dickie MM. 1966. Platinum Mouse News Lett 34:30.  [MGI Ref ID J:13442]

Erickson RP; Gluecksohn-Waelsch S; Cori CF. 1968. Glucose-6-phosphatase deficiency caused by radiation-induced alleles at the albino locus in the mouse. Proc Natl Acad Sci U S A 59(2):437-44. [PubMed: 4296364]  [MGI Ref ID J:5063]

Guillery RW. 1974. Visual pathways in albinos. Sci Am 230(5):44-54. [PubMed: 4822986]  [MGI Ref ID J:5436]

Hearing VJ; Phillips P; Lutzner MA. 1973. The fine structure of melanogenesis in coat color mutants of the mouse. J Ultrastruct Res 43(1):88-106. [PubMed: 4634048]  [MGI Ref ID J:5346]

Hegmann JP; Kieso RA; Hartman HB. 1974. Gene differences influencing visual system function and behavior. Behav Genet 4(2):165-70. [PubMed: 4842093]  [MGI Ref ID J:5470]

Jackson IJ; Bennett DC. 1990. Identification of the albino mutation of mouse tyrosinase by analysis of an in vitro revertant. Proc Natl Acad Sci U S A 87(18):7010-4. [PubMed: 2119500]  [MGI Ref ID J:40223]

Jeffery G; Schutz G; Montoliu L. 1994. Correction of abnormal retinal pathways found with albinism by introduction of a functional tyrosinase gene in transgenic mice. Dev Biol 166(2):460-4. [PubMed: 7813769]  [MGI Ref ID J:22320]

Juriloff DM; Harris MJ; Wong V; Miller JE. 1992. Studies of a spontaneous lethal mutation at the albino locus in SELH/Bc mice. Genome 35(2):342-6. [PubMed: 1618394]  [MGI Ref ID J:62]

Karst SY; Ward-Bailey PF; Smith RS; Hohenboken WD; Washburn LL; Bergstrom DE; Johnson KR; Donahue LR; Davisson MT; Eicher EM. 2009. Chick yellow: Mutation on Chromosome 3 causing eye and coat color abnormalties MGI Direct Data Submission :.  [MGI Ref ID J:149273]

Lighthouse JK; Zhang L; Hsieh JC; Rosenquist T; Holdener BC. 2010. MESD is essential for apical localization of megalin/LRP2 in the visceral endoderm. Dev Dyn :. [PubMed: 21061374]  [MGI Ref ID J:168622]

Medical Research Council (MRC) Harwell. 2012. Direct Data Submission 2012/01/26 MGI Direct Data Submission :.  [MGI Ref ID J:179802]

MouseBook^TM. 2005. Information obtained from MouseBook^TM, Medical Research Council Mammalian Genetics Unit, Harwell, UK. Unpublished :.  [MGI Ref ID J:169366]

Moyer FH. 1966. Genetic variations in the fine structure and ontogeny of mouse melanin granules. Am Zool 6(1):43-66. [PubMed: 5902512]  [MGI Ref ID J:5001]

Oak Ridge National Laboratory. 2005. Information obtained from the Oak Ridge National Laboratory Mutant Mouse Database (ORNL), Oak Ridge, TN Unpublished :.  [MGI Ref ID J:100221]

Qiao JH; Welch CL; Xie PZ; Fishbein MC; Lusis AJ. 1993. Involvement of the tyrosinase gene in the deposition of cardiac lipofuscin in mice. Association with aortic fatty streak development. J Clin Invest 92(5):2386-93. [PubMed: 8227355]  [MGI Ref ID J:15460]

Rios M; Habecker B; Sasaoka T; Eisenhofer G; Tian H; Landis S ; Chikaraishi D ; Roffler-Tarlov S. 1999. Catecholamine synthesis is mediated by tyrosinase in the absence of tyrosine hydroxylase. J Neurosci 19(9):3519-26. [PubMed: 10212311]  [MGI Ref ID J:54692]

Russell LB; Hunsicker PR; Cacheiro NL; Rinchik EM. 1992. Genetic, cytogenetic, and molecular analyses of mutations induced by melphalan demonstrate high frequencies of heritable deletions and other rearrangements from exposure of postspermatogonial stages of the mouse. Proc Natl Acad Sci U S A 89(13):6182-6. [PubMed: 1352884]  [MGI Ref ID J:24557]

SILVERS WK. 1958. Origin and identity of clear cells found in hair bulbs of albino mice. Anat Rec 130(2):135-44. [PubMed: 13545569]  [MGI Ref ID J:30725]

Silvers WK. 1956. Pigment cells: occurrence in hair follicles. J Morphol 99:41-55.  [MGI Ref ID J:13092]

Silvers WK. 1979. The Coat Colors of Mice; A Model for Mammalian Gene Action and Interaction. In: The Coat Colors of Mice. Springer-Verlag, New York.  [MGI Ref ID J:78801]

Sweet HO. 1987. Acromelanic (c<a>) Mouse News Lett 78:56.  [MGI Ref ID J:14994]

Sweet HO; Davisson MT. 1995. Remutations at The Jackson Laboratory (Update to Mouse Genome 1993; 91:862-5 - J16313) Mouse Genome 93(4):1030-4.  [MGI Ref ID J:30778]

Thiessen DD; Lindzey G; Owen K. 1970. Behavior and allelic variations in enzyme activity and coat color at the C locus of the mouse. Behav Genet 1(3):257-67. [PubMed: 5005683]  [MGI Ref ID J:5360]

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]

Tyler PA. 1970. Coat color differences and runway learning in mice. Behav Genet 1(2):149-55. [PubMed: 5527659]  [MGI Ref ID J:5378]

Wakamatsu K; Hirobe T; Ito S. 2007. High levels of melanin-related metabolites in plasma from pink-eyed dilution mice. Pigment Cell Res 20(3):222-4. [PubMed: 17516930]  [MGI Ref ID J:148667]

Wu M; Rinchik EM; Wilkinson E; Johnson DK. 1997. Inherited somatic mosaicism caused by an intracisternal A particle insertion in the mouse tyrosinase gene. Proc Natl Acad Sci U S A 94(3):890-4. [PubMed: 9023352]  [MGI Ref ID J:38209]

Yokoyama T; Silversides DW; Waymire KG; Kwon BS; Takeuchi T; Overbeek PA. 1990. Conserved cysteine to serine mutation in tyrosinase is responsible for the classical albino mutation in laboratory mice. Nucleic Acids Res 18(24):7293-8. [PubMed: 2124349]  [MGI Ref ID J:10889]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200.

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls

General Supply Notes

• Genomic DNA is available for this strain from the Mouse DNA Resource.

Control Information

	Control
	Heterozygote from the colony
Considerations for Choosing Controls
Control Pricing Information for Genetically Engineered Mutant Strains.

Payment Terms and Conditions

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.

See Terms of Use tab for General Terms and Conditions

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.

---

Ordering Information
JAX^® Mice
Surgical and Preconditioning Services
JAX^® Services
Customer Services and Support
Tel: 1-800-422-6423 or 1-207-288-5845
Fax: 1-207-288-6150
Technical Support Email Form

Terms of Use

Terms of Use

General Terms and Conditions

Contact information

General inquiries regarding Terms of Use

Contracts Administration

phone:	207-288-6470
fax:	207-288-6655

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"). "PRODUCTS" means biological materials supplied by JACKSON, and their derivatives. "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 the 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 or PRODUCTS from JACKSON shall be deemed as agreement by RECIPIENT to these conditions, and departure from these conditions requires JACKSON's prior written authorization.

In case of dissatisfaction for a valid reason and claimed in writing by a purchaser within ninety (90) days of receipt of mice, products or services, JACKSON will, at its option, provide credit or replacement for the mice or product received or the services provided.

No Liability

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.

MICE and PRODUCTS are to be used in a safe manner and in accordance with all applicable governmental rules and regulations.

The foregoing represents the General Terms and Conditions applicable to JACKSON’s MICE, PRODUCTS or services. In addition, special terms and conditions of sale of certain MICE, PRODUCTS or services may be set forth separately in JACKSON web pages, catalogs, price lists, contracts, and/or other documents, and these special terms and conditions shall also govern the sale of these MICE, PRODUCTS and services by JACKSON, and by its licensees and distributors.

Acceptance of delivery of MICE, PRODUCTS or services shall be deemed agreement to these terms and conditions. No purchase order or other document transmitted by purchaser or recipient that may modify the terms and conditions hereof, shall be in any way binding on JACKSON, and instead the terms and conditions set forth herein, including any special terms and conditions set forth separately, shall govern the sale of MICE, PRODUCTS or services by JACKSON.