Strain Name:

STOCK Oca2p-d/Oca2p-cp/J

Stock Number:

001747

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

Description
Mice homozygous for Oca2p-d (dark pink-eye) are born with lightly pigmented eyes, darker than those of Oca2p/Oca2p mice, which darken by weaning and a coat color "considerably darker than that of Oca2p/Oca2p mice, somewhat resembling that of brown [Tyrp1b/Tyrp1b] mice"; both sexes are fertile (Gardner et al. 1977, Lyon et al. 1992). A normal-sized Oca2p transcript is present in eyes of Oca2p-d/Oca2p-d mice (Gardner et al. 1992), and Southern blot analysis revealed no gross alteration of the Oca2p gene (Gardner et al. 1992, Lyon et al. 1992); thus, the molecular nature of the defect is unknown. Most Oca2p-cp (p-cleft palate, formerly p11H) homozygotes die soon after birth with cleft palate; the few that survive to adulthood exhibit significant dilution of coat color with pink eyes, similar in appearance to Oca2p/Oca2p mice. Oca2p-cp/Oca2p-cp mice were reported by Lyon et al. (1992) to be smaller than littermates and to exhibit a somewhat jerky gait, although Phillips (1992) reported their gait as normal. Philips (1992) indicated that Oca2p-cp homozygous males are fertile, but Johnson and Hunt (1975) reported them to be sterile. Female Oca2p-cp homozygotes are fertile, but fail to care for their young (Lyon et al. 1992). Oca2p-cp is a deletion encompassing all except the first exon of the Oca2p gene (Lyon et al. 1992, Gardner et al. 1992, Nakatsu et al. 1993), the genes encoding the alpha-5 and gamma-3 subunits of the gamma-aminobutyric acid type A receptor (Gabra3 and Gabrg3), and the 5' end of the Gabrb3 gene encoding the beta-3 subunit of the same receptor (Nakatsu et al. 1993); the deletion does not affect the Herc2 gene proximal to Oca2p (Lehman et al. 1998). Oca2p-d/Oca2p-cp compound heterozygotes have a color phenotype intermediate between those of the two homozygotes: eyes are "lighter at birth than those of Oca2p-d/Oca2p-d mice (but not as light as those of Oca2p/Oca2p mice) and darken by weaning"; ears and tail are lighter than those of Oca2p-d/Oca2p-d mice, but coat color is indistinguishable. The compound heterozygotes exhibit no behavioral abnormalities and are fertile (Lyon et al. 1992).

Development
Both the Oca2p-d and Oca2p-cp mutations were radiation induced at the Medical Research Council Radiobiology Unit, Harwell, UK, the former by X-irradiation of the fetus and the latter by neutron irradiation of a male mouse, both of strains/stocks of unidentified lineage.

Control Information

  Control
   None Available
 
  Considerations for Choosing Controls

Related Strains

Strains carrying   Oca2p-d allele
001585   STOCK Oca2p-d/Oca2p-25H/J
000823   STOCK Oca2p-d/Oca2p-6H/J
View Strains carrying   Oca2p-d     (2 strains)

View Strains carrying other alleles of Oca2     (22 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-cp/Oca2p-cp

        Background Not Specified
  • mortality/aging
  • partial perinatal lethality
    • majority have severe cleft palate and die at birth   (MGI Ref ID J:2108)
  • pigmentation phenotype
  • decreased eye pigmentation
    • eyes are pink   (MGI Ref ID J:13618)
  • diluted coat color
    • pigmentation reduced primarily in eumelanin   (MGI Ref ID J:13618)
    • same as homozygous pink-eyed dilution   (MGI Ref ID J:13618)
  • behavior/neurological phenotype
  • jerky movement
    • background dependent   (MGI Ref ID J:2108)
  • craniofacial phenotype
  • cleft palate
    • severely affected mice die soon after birth   (MGI Ref ID J:13618)
  • growth/size/body phenotype
  • cleft palate
    • severely affected mice die soon after birth   (MGI Ref ID J:13618)
  • postnatal growth retardation   (MGI Ref ID J:2108)
  • vision/eye phenotype
  • decreased eye pigmentation
    • eyes are pink   (MGI Ref ID J:13618)
  • digestive/alimentary phenotype
  • cleft palate
    • severely affected mice die soon after birth   (MGI Ref ID J:13618)
  • integument phenotype
  • diluted coat color
    • pigmentation reduced primarily in eumelanin   (MGI Ref ID J:13618)
    • same as homozygous pink-eyed dilution   (MGI Ref ID J:13618)

Oca2p-d/Oca2p-d

        Background Not Specified
  • reproductive system phenotype
  • *normal* reproductive system phenotype
    • unlike some mutant Oca2, pink-eyed dilution alleles, this allele does not affect fertility   (MGI Ref ID J:2108)
  • pigmentation phenotype
  • abnormal coat/hair pigmentation   (MGI Ref ID J:15050)
    • diluted coat color
      • only slightly diluted compared with wild-type   (MGI Ref ID J:15050)
  • decreased eye pigmentation
    • only slightly pigmented at birth   (MGI Ref ID J:15082)
    • eyes darken by weaning age   (MGI Ref ID J:15082)
  • vision/eye phenotype
  • decreased eye pigmentation
    • only slightly pigmented at birth   (MGI Ref ID J:15082)
    • eyes darken by weaning age   (MGI Ref ID J:15082)
  • integument phenotype
  • abnormal coat/hair pigmentation   (MGI Ref ID J:15050)
    • diluted coat color
      • only slightly diluted compared with wild-type   (MGI Ref ID J:15050)
View Research Applications

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

Oca2p-cp related

Dermatology Research
Color and White Spotting Defects

Developmental Biology Research
Craniofacial and Palate Defects
      congenital cleft palate

Oca2p-d related

Dermatology Research
Color and White Spotting Defects

Reproductive Biology Research
Fertility Defects

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol Oca2p-cp
Allele Name pink-eyed dilution cleft palate
Allele Type Radiation induced
Common Name(s) p11H; pcp;
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 This mutation was found in the progeny of a neutron-irradiated male. Most homozygotes die soon after birth with cleft palate, but a few, presumably with unaffected or slightly affected palates, survive to maturity and are fertile. Female fertility is reduced; males have not been tested (J:2108). The pcp mutation has been shown to be a deletion, which disrupts genes for three gamma-aminobutyric acid type A receptors, Gabra5, Gabrb3, and Gabrg3, which are clustered on Chr 7. The human homologs of these receptor genes are closely linked with the genes for Angelman and Prader-Willi syndromes (J:13583).
 
Allele Symbol Oca2p-d
Allele Name dark pink-eyed
Allele Type Radiation induced
Common Name(s) pd;
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 The molecular basis for this mutant allele has not been determined.

Genotyping

Genotyping Information


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Additional References

Oca2p-cp 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]

Hagiwara N; Katarova Z; Siracusa LD; Brilliant MH. 2003. Nonneuronal expression of the GABA(A) beta3 subunit gene is required for normal palate development in mice. Dev Biol 254(1):93-101. [PubMed: 12606284]  [MGI Ref ID J:83131]

Homanics GE; DeLorey TM; Firestone LL; Quinlan JJ; Handforth A ; Harrison NL ; Krasowski MD ; Rick CE ; Korpi ER ; Makela R ; Brilliant MH ; Hagiwara N ; Ferguson C ; Snyder K ; Olsen RW. 1997. Mice devoid of gamma-aminobutyrate type A receptor beta3 subunit have epilepsy, cleft palate, and hypersensitive behavior. Proc Natl Acad Sci U S A 94(8):4143-8. [PubMed: 9108119]  [MGI Ref ID J:39801]

Lehman AL; Silvers WK; Puri N; Wakamatsu K; Ito S; Brilliant MH. 2000. The underwhite (uw) locus acts autonomously and reduces the production of melanin J Invest Dermatol 115(4):601-6. [PubMed: 10998130]  [MGI Ref ID J:64978]

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]

Phillips RJS. 1973. p<11>, a pink-eyed allele Mouse News Lett 48:30.  [MGI Ref ID J:13618]

Rosemblat S; Sviderskaya EV; Easty DJ; Wilson A; Kwon BS; Bennett DC ; Orlow SJ. 1998. Melanosomal defects in melanocytes from mice lacking expression of the pink-eyed dilution gene: correction by culture in the presence of excess tyrosine. Exp Cell Res 239(2):344-52. [PubMed: 9521852]  [MGI Ref ID J:47086]

Sitaram A; Dennis MK; Chaudhuri R; De Jesus-Rojas W; Tenza D; Setty SR; Wood CS; Sviderskaya EV; Bennett DC; Raposo G; Bonifacino JS; Marks MS. 2012. Differential recognition of a dileucine-based sorting signal by AP-1 and AP-3 reveals a requirement for both BLOC-1 and AP-3 in delivery of OCA2 to melanosomes. Mol Biol Cell 23(16):3178-92. [PubMed: 22718909]  [MGI Ref ID J:199702]

Oca2p-d related

Carter TC. 1959. New mutant, dark pink-eye Mouse News Lett 21:40.  [MGI Ref ID J:15050]

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]

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]

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 & HusbandryBecause of the high neonatal lethality of pcpin the homozygous state, this mutation must be maintained heterozygously; keeping it on the pd/pcpcompound heterozygote allows phenotypic identification of all genotypes.

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* $3300.00
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 10 and 14 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* $4290.00
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 10 and 14 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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