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

Former Names C57BL/6J-pun/J    (Changed: 11-FEB-08 ) Type Coisogenic; Mutant Strain; Spontaneous Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse Generation N49pF1p Generation Definitions

Description
The pink-eyed unstable (Oca2^p-un) mutation comprises a 70-kb, head-to-tail duplication of a transcribed region of the Oca2^p gene. Oca2^p-un homozygotes have a greatly diluted coat color and pink eyes; however, approximately 3.5% of Oca2^p-un/Oca2^p-un mice are mosaic for wild-type coat color (Melvold et al., 1971) because of somatic reversion of the mutation involving loss of the duplicated segment (Brilliant et al.1991, Gondo et al. 1993).

Development
The Oca2^p-un mutation occurred spontaneously in the C57BL/6J strain.

Control Information

	Control
	Untyped from the colony
	000664 C57BL/6J
Considerations for Choosing Controls

Related Strains

Strains carrying other alleles of Oca2

000090	129S1/Sv-Oca2+ Tyr+ KitlSl-J/J
001279	129T1/Sv-Oca2+ Tyrc-ch Aft/J
000091	129T1/Sv-Oca2+ Tyrc-ch Dnd1Ter/J
000004	ABP/LeJ
000822	B6 x 129S1/SvEi Oca2+ Tyr+-Vsx2or-J/J
000577	B6 x STOCK a Oca2p Hps5ru2 Ednrbs/J
001059	B6By.Cg-Oca2p/J
002460	C3H/HeJ-Oca2p-J Is(7;1)40H/J
000513	C3H/HeJ-Oca2p-J/J
001136	C57BL/6J-Oca2p-un+2J/J
001506	C57BL/6J-Oca2p-un+3J/J
001810	C57BL/6J-Oca2p-un+4J/J
001513	C57BL/6J-Oca2p-un+5J/J
001499	C57BL/6J-Oca2p-un+6J/J
001033	C57BL/6J-Oca2p-un+J/J
000619	FS/EiJ
000494	J.Cg-Oca2+ Tyr+ Lystbg/J
000306	STOCK Dll3pu + Tyrc-ch/+ Oca2p Tyrc-ch/J
001584	STOCK Oca2p-J/Oca2p-bs/J
001585	STOCK Oca2p-d/Oca2p-25H/J
000823	STOCK Oca2p-d/Oca2p-6H/J
001747	STOCK Oca2p-d/Oca2p-cp/J
001618	STOCK Oca2p Prop1df/J

View Strains carrying other alleles of Oca2     (23 strains)

Phenotype

Phenotype Information

View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI

      assigned by genotype

Oca2^p-un/Oca2^p-un

        C57BL/6J

• pigmentation phenotype
• abnormal coat/hair pigmentation   (MGI Ref ID J:85780)
• • diluted coat color   (MGI Ref ID J:85780)
  • mottled coat
    • extent varies from a few isolated black hairs to heavily mottled   (MGI Ref ID J:85780)
    • coats of 1.8% of offspring of homozygous parents are gray/black mottled   (MGI Ref ID J:5226)
    • mottling indicates reversion to wild-type coat color which occurs 3-5 times more frequent than for other p alleles or recessive muations at other coat color loci   (MGI Ref ID J:11138)
    • revertant lines can be established from inter se matings of mottled mice or matings of homozygous pink-unstabe mice to mottled mice   (MGI Ref ID J:11138)
• abnormal eye pigmentation
  • mice with mottled coats have eye pigmentation ranging from pink-eyed to mosaic to full color   (MGI Ref ID J:85780)
  • eye pigmentation is often bilaterally asymmetrical   (MGI Ref ID J:85780)
• vision/eye phenotype
• abnormal eye pigmentation
  • mice with mottled coats have eye pigmentation ranging from pink-eyed to mosaic to full color   (MGI Ref ID J:85780)
  • eye pigmentation is often bilaterally asymmetrical   (MGI Ref ID J:85780)
• integument phenotype
• abnormal coat/hair pigmentation   (MGI Ref ID J:85780)
• • diluted coat color   (MGI Ref ID J:85780)
  • mottled coat
    • extent varies from a few isolated black hairs to heavily mottled   (MGI Ref ID J:85780)
    • coats of 1.8% of offspring of homozygous parents are gray/black mottled   (MGI Ref ID J:5226)
    • mottling indicates reversion to wild-type coat color which occurs 3-5 times more frequent than for other p alleles or recessive muations at other coat color loci   (MGI Ref ID J:11138)
    • revertant lines can be established from inter se matings of mottled mice or matings of homozygous pink-unstabe mice to mottled mice   (MGI Ref ID J:11138)

View Research Applications

Research Applications

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

Oca2^p-un related

Dermatology Research
Color and White Spotting Defects

Mouse/Human Gene Homologs
albinism, oculocutaneous type II, OCA2

Genes & Alleles

Gene & Allele Information provided by MGI

Allele Symbol		Oca2p-un
Allele Name		pink-eyed dilution unstable
Allele Type		Spontaneous
Common Name(s)		p'; pm; pun;
Strain of Origin		C57BL/6J
Gene Symbol and Name		Oca2, oculocutaneous albinism II
Chromosome		7
Gene Common Name(s)		BEY; BEY1; BEY2; BOCA; D15S12; D7H15S12; D7Icr28RN; D7Nic1; DNA segment, Chr 7, Institute for Cancer Research 28RN; DNA segment, Chr 7, Nicholls 1; DNA segment, Chr 7, human D15S12; EYCL; EYCL2; EYCL3; HCL3; P; PED; SHEP1; p; pink-eyed dilution;
General Note		pun, pink-eyed unstable, recessive. This mutation arose spontaneously in the C57BL/6J strain. Homozygotes resemble p/p mice phenotypically, but pun reverts somatically to wild-type with high frequency. The reversion rate varies with age, beinghighest at 2 and at 10 days of gestation, and with genotype of parents, being higher in pun homozygous progeny of heterozygous parents (pun/+ or pun/p mated inter se) than of homozygous pun parents (J:5526). Whitney and Lamoreux (J:6739) suggest that pun may have been produced by insertion of a transposable element into the wild-type p locus gene, frequent excision of the element being responsible for the high reversion rate. Subsequently Brilliant et al. (J:2230) have shown that in the pun mutation, coding sequences of the p gene are interrupted by a head-to-tail tandem duplication of genomic DNA, one copy of which appears to be lost in revertant mice (J:3762). In the pigmented retinal epithelium, darkly pigmented revertant cells occur with greater frequency in the more distal or anterior part of the epithelial layer than in the proximal part near the optic nerve, indicating that the rate of reversion is conditioned by the tissue environment (J:7305). Homozygous pun mice, in common with some other mutations that reduce pigmentation, have a reduced number of projections of retinal ganglion cells to the ipsilateral lateral geniculate nucleus (J:6064).
Molecular Note		High-resolution Southern blots of genomic DNA hybridized to dispersed and moderately repetitive DNA sequences showed this allele has a DNA duplication derived from a sequence family encoding the retroviral-like intracisternal A particles. The IAP duplication is part of a much larger duplicated segment of DNA. [MGI Ref ID J:11138]

Genotyping

Genotyping Information

Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Additional References

Bishop AJ; Kosaras B; Sidman RL; Schiestl RH. 2000. Benzo(a)pyrene and X-rays induce reversions of the pink-eyed unstable mutation in the retinal pigment epithelium of mice. Mutat Res 457(1-2):31-40. [PubMed: 11106796]  [MGI Ref ID J:66386]

Brilliant MH. 1992. The mouse pink-eyed dilution locus: a model for aspects of Prader-Willi syndrome, Angelman syndrome, and a form of hypomelanosis of Ito. Mamm Genome 3(4):187-91. [PubMed: 1611213]  [MGI Ref ID J:3253]

Brilliant MH; Gondo Y; Eicher EM. 1991. Direct molecular identification of the mouse pink-eyed unstable mutation by genome scanning. Science 252(5005):566-9. [PubMed: 1673574]  [MGI Ref ID J:11138]

Gardner JM; Nakatsu Y; Gondo Y; Lee S; Lyon MF; King RA; Brilliant MH. 1992. The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes. Science 257(5073):1121-4. [PubMed: 1509264]  [MGI Ref ID J:2206]

Gondo Y; Gardner JM; Nakatsu Y; Durham-Pierre D; Deveau SA; Kuper C; Brilliant MH. 1993. High-frequency genetic reversion mediated by a DNA duplication: the mouse pink-eyed unstable mutation. Proc Natl Acad Sci U S A 90(1):297-301. [PubMed: 8419934]  [MGI Ref ID J:3762]

Lebel M. 2002. Increased frequency of DNA deletions in pink-eyed unstable mice carrying a mutation in the Werner syndrome gene homologue. Carcinogenesis 23(1):213-6. [PubMed: 11756244]  [MGI Ref ID J:73919]

Melvold RW. 1971. Spontaneous somatic reversion in mice. Effects of parental genotype on stability at the p-locus. Mutat Res 12(2):171-4. [PubMed: 5094803]  [MGI Ref ID J:5226]

Oakey RJ; Keiper NM; Ching AS; Brilliant MH. 1996. Molecular analysis of the cDNAs encoded by the pun and pJ alleles of the pink-eyed dilution locus. Mamm Genome 7(4):315-6. [PubMed: 8661705]  [MGI Ref ID J:32816]

Potterf SB; Furumura M; Sviderskaya EV; Santis C; Bennett DC; Hearing VJ. 1998. Normal tyrosine transport and abnormal tyrosinase routing in pink-eyed dilution melanocytes. Exp Cell Res 244(1):319-26. [PubMed: 9770375]  [MGI Ref ID J:50341]

Reliene R; Bishop AJ; Li G; Schiestl RH. 2004. Ku86 deficiency leads to reduced intrachromosomal homologous recombination in vivo in mice. DNA Repair (Amst) 3(2):103-11. [PubMed: 14706343]  [MGI Ref ID J:87471]

Reliene R; Fischer E; Schiestl RH. 2004. Effect of N-acetyl cysteine on oxidative DNA damage and the frequency of DNA deletions in atm-deficient mice. Cancer Res 64(15):5148-53. [PubMed: 15289318]  [MGI Ref ID J:91873]

Rinchik EM; Bultman SJ; Horsthemke B; Lee ST; Strunk KM; Spritz RA; Avidano KM; Jong MT; Nicholls RD. 1993. A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism. Nature 361(6407):72-6. [PubMed: 8421497]  [MGI Ref ID J:3600]

Oca2^p-un related

Aubrecht J; Secretan MB; Bishop AJ; Schiestl RH. 1999. Involvement of p53 in X-ray induced intrachromosomal recombination in mice. Carcinogenesis 20(12):2229-36. [PubMed: 10590213]  [MGI Ref ID J:59211]

Bishop AJ; Hollander MC; Kosaras B; Sidman RL; Fornace AJ Jr; Schiestl RH. 2003. Atm-, p53-, and Gadd45a-deficient mice show an increased frequency of homologous recombination at different stages during development. Cancer Res 63(17):5335-43. [PubMed: 14500365]  [MGI Ref ID J:85514]

Bishop AJ; Kosaras B; Carls N; Sidman RL; Schiestl RH. 2001. Susceptibility of proliferating cells to benzo[a]pyrene-induced homologous recombination in mice. Carcinogenesis 22(4):641-9. [PubMed: 11285201]  [MGI Ref ID J:68817]

Bishop AJ; Kosaras B; Hollander MC; Fornace A Jr; Sidman RL; Schiestl RH. 2006. p21 controls patterning but not homologous recombination in RPE development. DNA Repair (Amst) 5(1):111-20. [PubMed: 16202662]  [MGI Ref ID J:104280]

Bishop AJ; Kosaras B; Sidman RL; Schiestl RH. 2000. Benzo(a)pyrene and X-rays induce reversions of the pink-eyed unstable mutation in the retinal pigment epithelium of mice. Mutat Res 457(1-2):31-40. [PubMed: 11106796]  [MGI Ref ID J:66386]

Brilliant MH; Gondo Y; Eicher EM. 1991. Direct molecular identification of the mouse pink-eyed unstable mutation by genome scanning. Science 252(5005):566-9. [PubMed: 1673574]  [MGI Ref ID J:11138]

Brilliant MH; Gondo Y; Eicher EM. 1992. The mouse pink-eyed unstable mutation: a DNA duplication revealed by genome scanning. Pigment Cell Res Suppl 2:271-4. [PubMed: 1409429]  [MGI Ref ID J:2230]

Brown AD; Claybon AB; Bishop AJ. 2011. A conditional mouse model for measuring the frequency of homologous recombination events in vivo in the absence of essential genes. Mol Cell Biol 31(17):3593-602. [PubMed: 21709021]  [MGI Ref ID J:175080]

Carls N; Schiestl RH. 1999. Effect of ionizing radiation on transgenerational appearance of p(un) reversions in mice. Carcinogenesis 20(12):2351-4. [PubMed: 10590232]  [MGI Ref ID J:59212]

Deol MS; Truslove GM. 1983. The effects of the pink-eyed unstable gene on the retinal pigment epithelium of the mouse. J Embryol Exp Morphol 78:291-8. [PubMed: 6663229]  [MGI Ref ID J:7305]

Gardner JM; Nakatsu Y; Gondo Y; Lee S; Lyon MF; King RA; Brilliant MH. 1992. The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes. Science 257(5073):1121-4. [PubMed: 1509264]  [MGI Ref ID J:2206]

Gondo Y; Gardner JM; Nakatsu Y; Durham-Pierre D; Deveau SA; Kuper C; Brilliant MH. 1993. High-frequency genetic reversion mediated by a DNA duplication: the mouse pink-eyed unstable mutation. Proc Natl Acad Sci U S A 90(1):297-301. [PubMed: 8419934]  [MGI Ref ID J:3762]

Jalili T; Murthy GG; Schiestl RH. 1998. Cigarette smoke induces DNA deletions in the mouse embryo. Cancer Res 58(12):2633-8. [PubMed: 9635590]  [MGI Ref ID J:48746]

LaVail JH; Nixon RA; Sidman RL. 1978. Genetic control of retinal ganglion cell projections. J Comp Neurol 182(3):399-421. [PubMed: 102659]  [MGI Ref ID J:6064]

Lebel M. 2002. Increased frequency of DNA deletions in pink-eyed unstable mice carrying a mutation in the Werner syndrome gene homologue. Carcinogenesis 23(1):213-6. [PubMed: 11756244]  [MGI Ref ID J:73919]

Melvold RW. 1971. Spontaneous somatic reversion in mice. Effects of parental genotype on stability at the p-locus. Mutat Res 12(2):171-4. [PubMed: 5094803]  [MGI Ref ID J:5226]

Moore KJ; Swing DA; Copeland NG; Jenkins NA. 1990. Interaction of the murine dilute suppressor gene (dsu) with fourteen coat color mutations [published erratum appears in Genetics 1990 Sep;126(1):285] Genetics 125(2):421-30. [PubMed: 2379821]  [MGI Ref ID J:29467]

Orlow SJ; Brilliant MH. 1999. The pink-eyed dilution locus controls the biogenesis of melanosomes and levels of melanosomal proteins in the eye. Exp Eye Res 68(2):147-54. [PubMed: 10068480]  [MGI Ref ID J:53277]

Reliene R; Bishop AJ; Li G; Schiestl RH. 2004. Ku86 deficiency leads to reduced intrachromosomal homologous recombination in vivo in mice. DNA Repair (Amst) 3(2):103-11. [PubMed: 14706343]  [MGI Ref ID J:87471]

Reliene R; Pollard JM; Sobol Z; Trouiller B; Gatti RA; Schiestl RH. 2009. N-acetyl cysteine protects against ionizing radiation-induced DNA damage but not against cell killing in yeast and mammals. Mutat Res 665(1-2):37-43. [PubMed: 19427509]  [MGI Ref ID J:148390]

Reliene R; Yamamoto ML; Rao PN; Schiestl RH. 2010. Genomic instability in mice is greater in Fanconi anemia caused by deficiency of Fancd2 than Fancg. Cancer Res 70(23):9703-10. [PubMed: 21118969]  [MGI Ref ID J:167132]

Schiestl RH; Khogali F; Carls N. 1994. Reversion of the mouse pink-eyed unstable mutation induced by low doses of x-rays. Science 266(5190):1573-6. [PubMed: 7985029]  [MGI Ref ID J:21833]

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]

Trouiller B; Reliene R; Westbrook A; Solaimani P; Schiestl RH. 2009. Titanium dioxide nanoparticles induce DNA damage and genetic instability in vivo in mice. Cancer Res 69(22):8784-9. [PubMed: 19887611]  [MGI Ref ID J:154441]

Whitney JB 3rd; Lamoreux ML. 1982. Transposable elements controlling genetic instabilities in mammals. J Hered 73(1):12-8. [PubMed: 6279728]  [MGI Ref ID J:6739]

Wolfe HG. 1970. Naming p-unstable, p<un> Mouse News Lett 43:49.  [MGI Ref ID J:85779]

Wolfe HG. 1963. Two unusual mutations affecting coat color in the mouse Proc 11th Int Cong Genet :251.  [MGI Ref ID J:85780]

Yamamoto ML; Reliene R; Oshima J; Schiestl RH. 2008. Effects of human Werner helicase on intrachromosomal homologous recombination mediated DNA deletions in mice. Mutat Res 644(1-2):11-6. [PubMed: 18639560]  [MGI Ref ID J:139038]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, RG10/RG30.

Purchasing information

Pricing, Supply Level & Notes, Controls

General Supply Notes

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

Control Information

	Control
	Untyped from the colony
	000664 C57BL/6J
Considerations for Choosing Controls
Control Pricing Information for Genetically Engineered Mutant Strains.

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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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