Strain Name:

STOCK Oca2p-J/Oca2p-bs/J

Stock Number:

001584

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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 STOCK pJ/pbs/J    (Changed: 11-FEB-08 )
Type Mutant Stock; Radiation Induced Mutation; Spontaneous Mutation;
Additional information on Genetically Engineered and Mutant Mice.
Visit our online Nomenclature tutorial.
Specieslaboratory mouse

Description
Oca2p-J/Oca2p-J mice exhibit significant dilution of coat color with pink eyes, a phenotype similar to that produced by Oca2p/Oca2p. The Oca2p-J mutation is a partial deletion of the gene that completely ablates Oca2p function (Oakey et al. 1996). Oca2p-bs/Oca2p-bs mice show a less extreme coat color dilution and have black eyes from birth; the phenotype of Oca2p-bs homozygotes also includes stunted growth, jerky gait, male sterility, female semisterility, and impaired maternal behavior, and the smaller-than-expected proportion of Oca2p-bs homozygous intercross offspring implies reduced prenatal viability (Lyon et al. 1992). The Oca2p-bs mutation comprises a deletion that begins about 10 kb 5' of the Oca2p locus and extends for about 8 kb in the proximal direction from it (Lehman et al. 1998). The deletion does not include any part of the transcribed Oca2p sequence; the hypopigmentation of Oca2p-bs/Oca2p-bs mice may be due to a long-distance effect of the deletion or to some other, as yet undefined alteration of the Oca2p sequence. The non-pigmentation aspects of the Oca2p-bs phenotype result from the deletion of most of the Herc2 gene (Lehman et al. 1998). Oca2p-J/Oca2p-bs compound heterozygotes have a color phenotype intermediate between those of the two homozygotes, exhibit no behavioral abnormalities and are fertile.

Development
The Oca2p-bs mutation was induced at the Medical Research Council Radiobiology Unit, Harwell, UK by neutron irradiation of a male mouse of unspecified lineage. Oca2p-J occurred spontaneously in the C3H/HeJ strain at The Jackson Laboratory in 1974.

Control Information

  Control
   None Available
 
  Considerations for Choosing Controls

Related Strains

Strains carrying   Oca2p-J allele
000513   C3H/HeJ-Oca2p-J/J
View Strains carrying   Oca2p-J     (1 strain)

View Strains carrying other alleles of Oca2     (21 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, Oculocutaneous, Type II; OCA2   (OCA2)
View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      assigned by genotype

The following phenotype information is associated with a similar, but not exact match to this JAX® Mice strain.

Oca2p-bs/Oca2p-bs

        Background Not Specified
  • pigmentation phenotype
  • diluted coat color
    • color intermediate between homozygous p and homozygous p   (MGI Ref ID J:15082)
  • reproductive system phenotype
  • abnormal fertility/fecundity   (MGI Ref ID J:15082)
    • reduced male fertility
      • 1 of 7 males tested with multiple females sired one litter   (MGI Ref ID J:15082)
  • abnormal spermiogenesis
    • abnormality not described   (MGI Ref ID J:15082)
  • behavior/neurological phenotype
  • abnormal motor capabilities/coordination/movement   (MGI Ref ID J:15082)
    • abnormal motor coordination/ balance   (MGI Ref ID J:15082)
      • jerky movement   (MGI Ref ID J:15082)
  • growth/size/body phenotype
  • abnormal postnatal growth/weight/body size   (MGI Ref ID J:15082)
    • decreased body size   (MGI Ref ID J:15082)
  • integument phenotype
  • diluted coat color
    • color intermediate between homozygous p and homozygous p   (MGI Ref ID J:15082)
View Research Applications

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

Oca2p-J related

Dermatology Research
Color and White Spotting Defects

Oca2p-bs related

Reproductive Biology Research
Fertility Defects

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol Oca2p-J
Allele Name pink-eyed dilution Jackson
Allele Type Spontaneous
Common Name(s) pJ;
Strain of OriginC3H/HeJ
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;
Molecular Note Southern blot analysis of Sst1-digested genomic DNA from this allele, probed with a 1.0-kb Dra III fragment derived from clone MC2701 cDNA revealed a deletion of two exon-bearing fragments (6.9 and 10.0 kb) found in wild-type DNA from the pink-eyed dilution locus. This allele was shown to be allelic to Oca2p by a complementation test. [MGI Ref ID J:2206]
 
Allele Symbol Oca2p-bs
Allele Name pink-eyed dilution black eyed sterile
Allele Type Radiation induced
Common Name(s) Herc2p-24H; Herc2p-bs; p24H; pbs;
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 pbs, pink-eyed dilution-black-eyed sterile (formerly p24H); recessive; 960-BP DEL; 320 AA DEL: Arose in descendants of neutron treated mice (J:15082, J:2108). Homozygotes have dark eyes at birth. The coat color in adults is slightly lighter than pd but darker than pdn. At weaning, homozygotes show a slightly jerky behavior (J:15082, J:13043). Males are sterile, with a high proportion of abnormal sperm (multinucleated, multitailed, and acrosomal defects) and a reduced proportion of gonadotropiccells in the pituitary (J:49046, J:5219, J:5808). The sperm shows a loss of negative charge along the whole length of the tail (defined by the inability to stain with the positively charged colloidal iron hydroxide), suggesting that the defect in spermatogenesis may involve the Golgi apparatus and/or plasma membrane (J:11957). Females have greatly reduced fertility, with an increased proportion of polyovular follicles and no corpora lutea (J:5501). Mutant females can generally produce a small, first litter, but the pups often die neonatally due to poor maternal behavior, which may involve improper nesting (J:49046).
Molecular Note Southern blot analyses using cDNA probes from the pink-eyed dilution locus show that this allele comprises a 5' rearrrangement in the p gene. An intergenic deletion of 960-bp near the carboxy terminus of Herc2 deletes a stretch of 320 amino acids from the predicted protein, including the HECT domain. The overall deletion for this p-region mutant is ~8.0-kb. [MGI Ref ID J:2206] [MGI Ref ID J:49046]

Genotyping

Genotyping Information


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Additional References

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]

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]

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]

Oca2p-J related

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]

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; 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]

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]

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]

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]

Oca2p-bs related

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. 1954. Genetical studies on the skeleton of the mouse. XII. The development of undulated. J Genet 52(2):441-455.  [MGI Ref ID J:13043]

Hash DC; Wolfe HG. 1979. Pink-eyed dilution alleles affect negative surface charges of mouse spermatozoa. Dev Genet 1:61-68.  [MGI Ref ID J:11957]

Hunt DM; Johnson DR. 1971. Abnormal spermiogenesis in two pink-eyed sterile mutants in the mouse. J Embryol Exp Morphol 26(1):111-21. [PubMed: 5565073]  [MGI Ref ID J:5219]

Lehman AL; Nakatsu Y; Ching A; Bronson RT; Oakey RJ; Keiper-Hrynko N ; Finger JN ; Durham-Pierre D ; Horton DB ; Newton JM ; Lyon MF ; Brilliant MH. 1998. A very large protein with diverse functional motifs is deficient in rjs (runty, jerky, sterile) mice. Proc Natl Acad Sci U S A 95(16):9436-41. [PubMed: 9689098]  [MGI Ref ID J:49046]

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]

Melvold RW. 1974. The effects of mutant p-alleles on the reproductive system in mice. Genet Res 23(3):319-25. [PubMed: 4435358]  [MGI Ref ID J:5501]

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]

Phillips RJS. 1965. A new allele at the p-locus, p<24H> Mouse News Lett 32:39.  [MGI Ref ID J:13430]

Phillips RJS. 1977. Description of the phenotypes of p-alleles (other than p) held at Harwell Mouse News Lett 56:38.  [MGI Ref ID J:15082]

Wolfe HG. 1977. Effects on sperm morphology by alleles at the pink-eyed dilution locus in mice. Genetics 85(2):303-8. [PubMed: 863229]  [MGI Ref ID J:5808]

Health & husbandry

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.

Health & Colony Maintenance Information

Animal Health Reports

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

Colony Maintenance

Breeding & HusbandryThe male sterility, female semisterility and failure of females to nurture their young that are characteristic of Oca2p-bs homozygotes necessitate maintaining this mutation by mating compound heterozygotes. Oca2p-bs/Oca2p-bs females may produce one or two litters, but the pups must be fostered to survive.

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls


Pricing for USA, Canada and Mexico shipping destinations View International Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $3175.00
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.

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

Supply Notes

  • Cryorecovery of Strains Needing Progeny Testing
    At least two untested males and two untested females (two pairs) will be recovered (eight or more mice is typical). The total number of animals provided, their gender and genotype will vary. Untested animals typically are available to ship between 13 and 16 weeks from the date of your order. If the first recovery attempt is unsuccessful, a second recovery will be done, extending the overall recovery time to approximately 25 weeks. Progeny testing is required to identify the genotype of mice of this strain, as a genotyping assay is not available. This type of testing involves breeding the recovered animals and assessing the phenotype of the offspring in order to identify animals carrying the mutation of interest. We can perform the progeny testing for you as a service or we can ship all recovered animals to you for progeny testing at your facility. If you perform the progeny testing, there is NO guarantee that a carrier will be identified. If we perform progeny testing as a service, additional breeding time will be required. In this case, when a male and female (one pair) are identified that carry the mutation, they and their offspring will be shipped. Delivery time for strains requiring progeny testing often exceeds 25 weeks and may take 12 months or more due to the difficulties in breeding some strains. The progeny testing cost is in addition to the recovery cost and is based on the number of boxes used and the time taken to produce the mice identified as carrying the mutation.
    Please note that identified pairs may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation of the strain. Mating schemes are sometimes modified for successful cryopreservation.

    Please contact Customer Service for more information on the cost of progeny testing for a strain: Tel: 1-800-422-6423 or 1-207-288-5845 (from any location). 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).

Pricing for International shipping destinations View USA Canada and Mexico Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $4127.50
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.

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

Supply Notes

  • Cryorecovery of Strains Needing Progeny Testing
    At least two untested males and two untested females (two pairs) will be recovered (eight or more mice is typical). The total number of animals provided, their gender and genotype will vary. Untested animals typically are available to ship between 13 and 16 weeks from the date of your order. If the first recovery attempt is unsuccessful, a second recovery will be done, extending the overall recovery time to approximately 25 weeks. Progeny testing is required to identify the genotype of mice of this strain, as a genotyping assay is not available. This type of testing involves breeding the recovered animals and assessing the phenotype of the offspring in order to identify animals carrying the mutation of interest. We can perform the progeny testing for you as a service or we can ship all recovered animals to you for progeny testing at your facility. If you perform the progeny testing, there is NO guarantee that a carrier will be identified. If we perform progeny testing as a service, additional breeding time will be required. In this case, when a male and female (one pair) are identified that carry the mutation, they and their offspring will be shipped. Delivery time for strains requiring progeny testing often exceeds 25 weeks and may take 12 months or more due to the difficulties in breeding some strains. The progeny testing cost is in addition to the recovery cost and is based on the number of boxes used and the time taken to produce the mice identified as carrying the mutation.
    Please note that identified pairs may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation of the strain. Mating schemes are sometimes modified for successful cryopreservation.

    Please contact Customer Service for more information on the cost of progeny testing for a strain: Tel: 1-800-422-6423 or 1-207-288-5845 (from any location). 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).

View USA Canada and Mexico Pricing View International Pricing

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

Control Information

  Control
   None Available
 
  Considerations for Choosing Controls
  Control Pricing Information for Genetically Engineered Mutant Strains.
 

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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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