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General Terms and Conditions

Former Name	STOCK pd/pcp/J    (Changed: 11-FEB-08 )
Genes & Alleles	Oca2;   Oca2p-cp;   Oca2p-d;

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Product Information

Strain Details

Type JAX® GEMM® Strain - Mutant Stock Additional information on JAX® GEMM® Strains. Type JAX® GEMM® Strain - Radiation Induced Mutation Species laboratory mouse Generation F4

Strain 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).

Strain 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.

Mammalian Phenotype Terms assigned by genotype The following phenotype information may relate to a genetic background differing from this JAX® Mice strain. Oca2p-cp/Oca2p-cp         Background Not Specified lethality-prenatal/perinatal perinatal lethality (J:2108) majority have severe cleft palate and die at birth pigmentation phenotype diluted coat color (J:13618) pigmentation reduced primarily in eumelanin same as homozygous pink-eyed dilution reduced eye pigmentation (J:13618) eyes are pink behavior/neurological phenotype jerky movement (J:2108) background dependent craniofacial phenotype cleft palate (J:13618) severely affected mice die soon after birth growth/size phenotype postnatal growth retardation (J:2108) skin/coat/nails phenotype diluted coat color (J:13618) pigmentation reduced primarily in eumelanin same as homozygous pink-eyed dilution vision/eye phenotype reduced eye pigmentation (J:13618) eyes are pink digestive/alimentary phenotype cleft palate (J:13618) severely affected mice die soon after birth

Gene & Allele Details

Allele Symbol		Oca2p-cp
Allele Name		pink-eyed cleft palate
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
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).

Control Information

	Control
	None Available
Considerations for Choosing Controls

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.

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)

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

References

Additional References

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Price and Supply Information

Strain Name:	STOCK Oca2p-d/Oca2p-cp/J
Stock Number:	001747

Price Details

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Supply Details

Standard Supply	Repository-Cryopreserved. Must Be Recovered. Please refer to the Supply Notes for further information.
Supply Notes	Cryorecovery of Strains Needing Progeny Testing. The recovery process begins when a signed agreement form is returned to the Customer Service Department after order placement. Although results vary by strain, at least two untested males and two untested females (two pairs) will be recovered, typically within 15 weeks of our receipt of the signed agreement form. If the first recovery attempt is unsuccessful or only one pair is recovered, a second recovery will be done, extending the overall recovery time to approximately 25 weeks. However, all pups recovered will be sent. 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 (at least two untested pairs) 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. Cryorecovery to establish a Dedicated Supply for greater quantities of mice One to two pairs will be recovered to establish a Dedicated Supply of mice. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services: Tel: 1-800-422-6423 or 1-207-288-5845; Email: jaxservices@jax.org. Genomic DNA is available for this strain from the Mouse DNA Resource.
Licensing	See General Terms and Conditions below
Control Information	View Control Information in Strain Details.

General Terms and Conditions

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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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