Strain Name:

B6By.Cg-Oca2p/J

Stock Number:

001059

Availability:

Cryopreserved - Ready for recovery

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 B6By.Cg-p/J    (Changed: 11-FEB-08 )
Type Congenic; Mutant Strain;
Additional information on Genetically Engineered and Mutant Mice.
Visit our online Nomenclature tutorial.
Additional information on Congenic nomenclature.
Specieslaboratory mouse
Background Strain C57BL/6By
Donor Strain Fancy mice
GenerationN23p

Description
A normal-size Oca2p mRNA is present in the skin of mice homozygous for the Oca2p mutation, but in greatly reduced amounts; thus, this appears to be a hypomorphic rather than a null allele. B6By.Cg-Oca2p/Oca2p/J mice are grey with pink eyes. The Oca2p mutation affects the amount of eumelanin (brown/black pigment) and the size and morphology of eumelanosomes (black pigment granules), but has little or no effect on pheomelanin (red/yellow pigment).

Development
Pink-eyed dilution (Oca2p) is an old mutation of the mouse fancy. It was introduced onto the C57BL/6By background by repeated backcrossing to the host strain.

Related Strains

Strains carrying   Oca2p allele
000004   ABP/LeJ
000577   B6 x STOCK a Oca2p Hps5ru2 Ednrbs/J
000619   FS/EiJ
000306   STOCK Dll3pu + Tyrc-ch/+ Oca2p Tyrc-ch/J
001618   STOCK Oca2p/Oca2p Prop1df/J
View Strains carrying   Oca2p     (5 strains)

View Strains carrying other alleles of Oca2     (18 strains)

Phenotype

Phenotype Information

View Mammalian Phenotype Terms

Mammalian Phenotype Terms
      assigned by genotype

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

Oca2p/Oca2p

        Background Not Specified
  • pigmentation phenotype
  • diluted coat color (MGI Ref ID J:2108)
  • reduced eye pigmentation (MGI Ref ID J:2108)
  • skin/coat/nails phenotype
  • diluted coat color (MGI Ref ID J:2108)
  • vision/eye phenotype
  • reduced eye pigmentation (MGI Ref ID J:2108)

The following phenotype relates to a compound genotype created using this strain.
Contact JAX® Services jaxservices@jax.org for customized breeding options.

a/a Oca2p/Oca2p

        Background Not Specified
  • pigmentation phenotype
  • abnormal coat/hair pigmentation (MGI Ref ID J:12958)
    • abnormal hair follicle melanin granule morphology (MGI Ref ID J:12958)
      • pigment granules are not diluted but no longer evenly distributed, found as flecks and larger flocculent clumps
      • the color quality of the pigment is not altered but there are fewer cortical granules and an increase in pigmentation lag
      • abnormal hair follicle melanin granule distribution (MGI Ref ID J:12958)
      • abnormal hair follicle melanin granule shape (MGI Ref ID J:12958)
    • diluted coat color (MGI Ref ID J:12958)
      • with only black pigment (eumelanin) in hairs of the coat the color appears as a shade of grey
  • abnormal skin pigmentation (MGI Ref ID J:78801)
    • the tail has much less pigment than normal mice
    • abnormal ear pigmentation (MGI Ref ID J:78801)
      • the ears appear much lighter than ears of normal mice
  • reduced eye pigmentation (MGI Ref ID J:78801)
    • eyes are similar in color to eyes of albino mice
  • skin/coat/nails phenotype
  • abnormal coat/hair pigmentation (MGI Ref ID J:12958)
    • abnormal hair follicle melanin granule morphology (MGI Ref ID J:12958)
      • pigment granules are not diluted but no longer evenly distributed, found as flecks and larger flocculent clumps
      • the color quality of the pigment is not altered but there are fewer cortical granules and an increase in pigmentation lag
      • abnormal hair follicle melanin granule distribution (MGI Ref ID J:12958)
      • abnormal hair follicle melanin granule shape (MGI Ref ID J:12958)
    • diluted coat color (MGI Ref ID J:12958)
      • with only black pigment (eumelanin) in hairs of the coat the color appears as a shade of grey
  • abnormal skin pigmentation (MGI Ref ID J:78801)
    • the tail has much less pigment than normal mice
    • abnormal ear pigmentation (MGI Ref ID J:78801)
      • the ears appear much lighter than ears of normal mice
  • vision/eye phenotype
  • reduced eye pigmentation (MGI Ref ID J:78801)
    • eyes are similar in color to eyes of albino mice
  • craniofacial phenotype
  • abnormal ear pigmentation (MGI Ref ID J:78801)
    • the ears appear much lighter than ears of normal mice
  • hearing/vestibular/ear phenotype
  • abnormal ear pigmentation (MGI Ref ID J:78801)
    • the ears appear much lighter than ears of normal mice
View Research Applications

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

Oca2p related

Dermatology Research
Color and White Spotting Defects

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

Neurobiology Research
Angelman syndrome

Genes & Alleles

Gene & Allele Information

 
Allele Symbol Oca2p
Allele Name pink-eyed dilution
Allele Type Spontaneous
Common Name(s) p;
Strain of OriginAsiatic fancy mice
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

p is a very old mutation carried in many varieties of fancy mice (J:12958). It has been suggested that the original mutation occurred in Japanese wild mice, Mus musculus molossinus (J:19782).

Homozygotes have pink eyes with pigmentation very much reduced but not completely absent in both the retina and choroid. The black pigment of the hair is very much diluted, but the yellow pigment is only slightly affected. Pigment granules are irregular and shred-like in shape. The small amount of pigment they contain is of wild-type color (J:12970, J:12958). The fine structure of the pigment granules was said by Moyer (J:5001) to be disrupted, but Hearing et al. (J:5346) found the structure to be normal, with premature termination of the melanization process.

In tissue culture of the eye, the amount of pigment formed can be increased by increasing the concentration of tyrosine. This suggests that p may block the melanin-synthesizing pathway by interference with tyrosine supply (J:12726). The site of gene action is in the melanocytes and not in either the dermis or the epidermis (J:7988).

A presumed p gene has been cloned (J:2206). It was isolated from mouse melanoma and melanocyte libraries and is missing or altered in six independent p mutant alleles (J:2206). By sequence comparison, the human P locus, deletions of which are associated with hypopigmentation, is orthologous to p (J:2206). P maps to Chr 15q, near the Prader--Willi syndrome locus. On the basis of this location, the p mutation has been proposed to provide a mouse model for Prader--Willi syndrome, for Angelman syndrome, for one form of hypomelanosis of Ito (J:3253), and for type II oculocutaneous albinism (J:3600). A small nuclear ribonucleoprotein particle gene Snrpn maps near p and its human ortholog in the homologous Prader--Willi region of human Chromosome 15 (J:3623). Snrpn appears to be a better candidate for the Prader-Willi syndrome ortholog. P is deleted in human type II oculocutaneous albinism, making p a model for this disease (J:3600).

Genotyping

Genotyping Information

This strain will not have a genotyping protocol or one is not currently available.

Helpful Links

Genotyping resources and troubleshooting

References

References

Additional References

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]

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]

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]

Oca2p related

Brilliant MH; Ching A; Nakatsu Y; Eicher EM. 1994. The original pink-eyed dilution mutation (p) arose in Asiatic mice: implications for the H4 minor histocompatibility antigen, Myod1 regulation and the origin of inbred strains. Genetics 138(1):203-11. [PubMed: 8001787]  [MGI Ref ID J:19782]

Cook MN; Dunning JP; Wiley RG; Chesler EJ; Johnson DK; Miller DR; Goldowitz D. 2007. Neurobehavioral mutants identified in an ENU-mutagenesis project. Mamm Genome 18(8):559-72. [PubMed: 17629744]  [MGI Ref ID J:125716]

Feldman HW. 1924. Linkage of Albino Allelomorphs in Rats and Mice. Genetics 9(5):487-92. [PubMed: 17246054]  [MGI Ref ID J:93]

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]

Gruneberg H. 1952. . In: The Genetics of the Mouse. Martinus Nijhoff, The Hague.  [MGI Ref ID J:30758]

Haldane JBS; Sprunt AD; Haldane NM. 1915. Reduplication in mice J Genet 5:133-135.  [MGI Ref ID J:100]

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]

Lyon MF. 1963. Attempts to test the inactive-X theory of dosage compensation in mammals Genet Res 4:93-103.  [MGI Ref ID J:272]

Lyon MF; King TR; Gondo Y; Gardner JM; Nakatsu Y; Eicher EM; Brilliant MH. 1992. Genetic and molecular analysis of recessive alleles at the pink-eyed dilution (p) locus of the mouse. Proc Natl Acad Sci U S A 89(15):6968-72. [PubMed: 1495987]  [MGI Ref ID J:2108]

Markert CL; Silvers WK. 1956. The Effects of Genotype and Cell Environment on Melanoblast Differentiation in the House Mouse. Genetics 41(3):429-50. [PubMed: 17247639]  [MGI Ref ID J:12970]

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]

Mouse Genome Informatics (MGI). 2005. Information obtained from the Oak Ridge National Laboratory Mutant Mouse Database (ORNL), Oak Ridge, TN (http://bio.lsd.ornl.gov/mouse/) :.  [MGI Ref ID J:100221]

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]

PIERRO LJ; CHASE HB. 1963. Slate--a new coat color mutant in the mouse. J Hered 54:47-50. [PubMed: 13943454]  [MGI Ref ID J:25388]

Pierro LJ; Chase HB. 1965. Temporary hair loss associated with the slate mutation of coat colour in the mouse Nature 205:579-580.  [MGI Ref ID J:83269]

Quevedo WC Jr.; Chase HB. 1958. An analysis of the light mutation of coat color in mice. J Morphol 102:329-345.  [MGI Ref ID J:13094]

RUSSELL ES. 1949. A quantitative histological study of the pigment found in the coat-color mutants of the house mouse; interdependence among the variable granule attributes. Genetics 34(2):133-45. [PubMed: 18117146]  [MGI Ref ID J:148461]

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]

Russell ES. 1948. A Quantitative Histological Study of the Pigment Found in the Coat Color Mutants of the House Mouse. II. Estimates of the Total Volume of Pigment. Genetics 33(3):228-36. [PubMed: 17247280]  [MGI Ref ID J:148462]

Russell ES. 1946. A Quantitative Histological Study of the Pigment Found in the Coat-Color Mutants of the House Mouse. I. Variable Attributes of the Pigment Granules. Genetics 31(3):327-46. [PubMed: 17247200]  [MGI Ref ID J:148463]

Russell ES. 1949. A Quantitative Histological Study of the Pigment Found in the Coat-Color Mutants of the House Mouse. IV. the Nature of the Effects of Genic Substitution in Five Major Allelic Series. Genetics 34(2):146-66. [PubMed: 17247308]  [MGI Ref ID J:12958]

Russell LB; Montgomery CS; Cacheiro NL; Johnson DK. 1995. Complementation analyses for 45 mutations encompassing the pink-eyed dilution (p) locus of the mouse. Genetics 141(4):1547-62. [PubMed: 8601493]  [MGI Ref ID J:29903]

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]

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]

Health & husbandry

Health & Colony Maintenance Information

Currently there no information available for this strain. This may be due to the supply level of this strain.

Purchasing information

Pricing, Supply Level & Notes, Controls, General Terms & Conditions

Pricing

Pricing for USA, Canada and Mexico shipping destinations View International pricing
Price (US dollars $)
Cryorecovery Fee $1900.00
Animals Provided

At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.

Additional Supply Details

Pricing for International shipping destinations View USA Canada and Mexico pricing
Price (US dollars $)
Cryorecovery Fee $2470.00
Animals Provided

At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.

Additional Supply Details

Supply Details

Standard SupplyCryopreserved. Ready for recovery. Please refer to pricing and supply notes for further information.
Supply Notes
  • Cryorecovery - Standard.
    We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. The total number of animals provided, their gender and genotype will vary. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 13 and 16 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory 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. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).

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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.


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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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