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. Species laboratory mouse Generation F4

Description
Mice homozygous for Oca2^p-d (dark pink-eye) are born with lightly pigmented eyes, darker than those of Oca2^p/Oca2^p mice, which darken by weaning and a coat color "considerably darker than that of Oca2^p/Oca2^p mice, somewhat resembling that of brown [Tyrp1^b/Tyrp1^b] mice"; both sexes are fertile (Gardner et al. 1977, Lyon et al. 1992). A normal-sized Oca2^p transcript is present in eyes of Oca2^p-d/Oca2^p-d mice (Gardner et al. 1992), and Southern blot analysis revealed no gross alteration of the Oca2^p gene (Gardner et al. 1992, Lyon et al. 1992); thus, the molecular nature of the defect is unknown. Most Oca2^p-cp (p-cleft palate, formerly p^11H) 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 Oca2^p/Oca2^p mice. Oca2^p-cp/Oca2^p-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 Oca2^p-cp homozygous males are fertile, but Johnson and Hunt (1975) reported them to be sterile. Female Oca2^p-cp homozygotes are fertile, but fail to care for their young (Lyon et al. 1992). Oca2^p-cp is a deletion encompassing all except the first exon of the Oca2^p 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 Oca2^p (Lehman et al. 1998). Oca2^p-d/Oca2^p-cp compound heterozygotes have a color phenotype intermediate between those of the two homozygotes: eyes are "lighter at birth than those of Oca2^p-d/Oca2^p-d mice (but not as light as those of Oca2^p/Oca2^p mice) and darken by weaning"; ears and tail are lighter than those of Oca2^p-d/Oca2^p-d mice, but coat color is indistinguishable. The compound heterozygotes exhibit no behavioral abnormalities and are fertile (Lyon et al. 1992).

Development
Both the Oca2^p-d and Oca2^p-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   Oca2^p-d allele

001585	STOCK Oca2p-d/Oca2p-25H/J
000823	STOCK Oca2p-d/Oca2p-6H/J

View Strains carrying   Oca2^p-d     (2 strains)

Strains carrying other alleles of Oca2

000090	129S1/Sv-Oca2+ Tyr+ KitlSl-J/J
000091	129T1/Sv-Oca2+ Tyrc-ch Dnd1Ter/J
001279	129T1/Sv-Oca2+ Tyrc-ch-Aft/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
000028	C57BL/6J-Oca2p-un/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
001618	STOCK Oca2p/Oca2p Prop1df/J

View Strains carrying other alleles of Oca2     (23 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.

Oca2^p-cp/Oca2^p-cp

        Background Not Specified

• lethality-prenatal/perinatal
• perinatal lethality (MGI Ref ID J:2108)
  • majority have severe cleft palate and die at birth
• pigmentation phenotype
• diluted coat color (MGI Ref ID J:13618)
  • pigmentation reduced primarily in eumelanin
  • same as homozygous pink-eyed dilution
• reduced eye pigmentation (MGI Ref ID J:13618)
  • eyes are pink
• behavior/neurological phenotype
• jerky movement (MGI Ref ID J:2108)
  • background dependent
• craniofacial phenotype
• cleft palate (MGI Ref ID J:13618)
  • severely affected mice die soon after birth
• growth/size phenotype
• postnatal growth retardation (MGI Ref ID J:2108)
• skin/coat/nails phenotype
• diluted coat color (MGI Ref ID J:13618)
  • pigmentation reduced primarily in eumelanin
  • same as homozygous pink-eyed dilution
• vision/eye phenotype
• reduced eye pigmentation (MGI Ref ID J:13618)
  • eyes are pink
• digestive/alimentary phenotype
• cleft palate (MGI Ref ID J:13618)
  • severely affected mice die soon after birth

View Research Applications

Research Applications

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

Oca2^p-cp related

Dermatology Research
Color and White Spotting Defects

Developmental Biology Research
Craniofacial and Palate Defects
      cleft palate

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

Oca2^p-d related

Dermatology Research
Color and White Spotting Defects

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

Reproductive Biology Research
Fertility Defects

Genes & Alleles

Gene & Allele Information

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 eye
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		pd, dark pink eye, recessive. This mutation was probably induced by X-rays. Eyes of homozygotes are slightly pigmented at birth and darken in the next few days; the coat is only slightly diluted. Eyes of pd/p are colorless at birth but darken during the next 2 weeks; the coat is diluted but darker than that of p/p (J:15050). Eyes of pd/pbs are dark at birth; the coat is slightly lighter and the ears slightly darker than those of homozygous pd (J:15082). Female fertility is reduced; males are sterile (J:2108).

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

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]

Nakatsu Y; Tyndale RF; DeLorey TM; Durham-Pierre D; Gardner JM; McDanel HJ; Nguyen Q; Wagstaff J; Lalande M; Sikela JM; Olsen RW; Tobin AJ; Brilliant MH. 1993. A cluster of three GABAA receptor subunit genes is deleted in a neurological mutant of the mouse p locus. Nature 364(6436):448-50. [PubMed: 8392662]  [MGI Ref ID J:13583]

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]

Oca2^p-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 RJ. 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]

Oca2^p-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

Colony Maintenance

Breeding & Husbandry	Because 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.

Purchasing information

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

Pricing

Supply Details

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes 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 (from U.S.A., Canada and Puerto Rico only) 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). Genomic DNA is available for this strain from the Mouse DNA Resource.

Control Information

	Control
	None Available
Considerations for Choosing Controls
USA, Canada and Mexico - Control Pricing Information for Genetically Engineered Mutant Strains.
International - Control Pricing Information for Genetically Engineered Mutant Strains.

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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.

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JAX^® Mice, Products & Services Conditions of Use

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