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Strain Name:

C57BL/6J-Oca2p-un/J

Stock Number:

000028

Availability:

Repository-Cryopreserved


Price and Supply Information

General Terms and Conditions

Former Name      C57BL/6J-pun/J    (Changed: 11-FEB-08 )
Genes & Alleles   Oca2;   Oca2p-un;


Product Information

Strain Details

Type JAX® GEMM® Strain - Coisogenic
Additional information on JAX® GEMM® Strains.
Type JAX® GEMM® Strain - Mutant Strain
Type JAX® GEMM® Strain - Spontaneous Mutation
Specieslaboratory mouse
GenerationN49pF1p

Strain Description
The pink-eyed unstable (Oca2p-un) mutation comprises a 70-kb, head-to-tail duplication of a transcribed region of the Oca2p gene. Oca2p-un homozygotes have a greatly diluted coat color and pink eyes; however, approximately 3.5% of Oca2p-un/Oca2p-un mice are mosaic for wild-type coat color (Melvold et al., 1971) because of somatic reversion of the mutation involving loss of the duplicated segment (Brilliant et al.1991, Gondo et al. 1993).

Strain Development
The Oca2p-un mutation occurred spontaneously in the C57BL/6J strain.

Mammalian Phenotype Terms assigned by genotype

Oca2p-un/Oca2p-un

        C57BL/6J
  • pigmentation phenotype
  • abnormal coat color (MGI Ref ID J:85780)
    • diluted coat color (MGI Ref ID J:85780)
    • mottled coat (MGI Ref ID J:85780)
      • extent varies from a few isolated black hairs to heavily mottled
      • coats of 1.8% of offspring of homozygous parents are gray/black mottled
      • mottling indicates reversion to wild-type coat color which occurs 3-5 times more frequent than for other p alleles or recessive muations at other coat color loci
      • revertant lines can be established from inter se matings of mottled mice or matings of homozygous pink-unstabe mice to mottled mice
  • abnormal eye pigmentation (MGI Ref ID J:85780)
    • mice with mottled coats have eye pigmentation ranging from pink-eyed to mosaic to full color
    • eye pigmentation is often bilaterally asymmetrical
  • skin/coat/nails phenotype
  • abnormal coat color (MGI Ref ID J:85780)
    • diluted coat color (MGI Ref ID J:85780)
    • mottled coat (MGI Ref ID J:85780)
      • extent varies from a few isolated black hairs to heavily mottled
      • coats of 1.8% of offspring of homozygous parents are gray/black mottled
      • mottling indicates reversion to wild-type coat color which occurs 3-5 times more frequent than for other p alleles or recessive muations at other coat color loci
      • revertant lines can be established from inter se matings of mottled mice or matings of homozygous pink-unstabe mice to mottled mice
  • vision/eye phenotype
  • abnormal eye pigmentation (MGI Ref ID J:85780)
    • mice with mottled coats have eye pigmentation ranging from pink-eyed to mosaic to full color
    • eye pigmentation is often bilaterally asymmetrical

Gene & Allele Details

Allele Symbol Oca2p-un
Allele Name pink-eyed unstable
Common Name(s) p'; pm; pun;
Strain of OriginC57BL/6J
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 pun, pink-eyed unstable, recessive. This mutation arose spontaneously in the C57BL/6J strain. Homozygotes resemble p/p mice phenotypically, but pun reverts somatically to wild type with high frequency. The reversion rate varies with age, beinghighest at 2 and at 10 days of gestation, and with genotype of parents, being higher in pun homozygous progeny of heterozygous parents (pun/+ or pun/p mated inter se) than of homozygous pun parents (J:5526). Whitney and Lamoreux (J:6739) suggest that pun may have been produced by insertion of a transposable element into the wild type p locus gene, frequent excision of the element being responsible for the high reversion rate. Subsequently Brilliant et al. (J:2230) have shown that in the pun mutation, coding sequences of the p gene are interrupted by a head-to-tail tandem duplication of genomic DNA, one copy of which appears to be lost in revertant mice (J:3762). In the pigmented retinal epithelium, darkly pigmented revertant cells occur with greater frequency in the more distal or anterior part of the epithelial layer than in the proximal part near the optic nerve, indicating that the rate of reversion is conditioned by the tissue environment (J:7305). Homozygous pun mice, in common with some other mutations that reduce pigmentation, have a reduced number of projections of retinal ganglion cells to the ipsilateral lateral geniculate nucleus (J:6064).
Molecular Note High-resolution Southern blots of genomic DNA hybridized to dispersed and moderately repetitive DNA sequences showed this allele has a DNA duplication derived from a sequence family encoding the retroviral-like intracisternal A particles. The IAP duplication is part of a much larger duplicated segment of DNA. [MGI Ref ID J:11138]

Control Information

  Control
   Untyped from the colony
   000664 C57BL/6J
 
  Considerations for Choosing Controls
  Control Pricing Information for JAX® GEMM® Strains

Related Strains

View Strains carrying other alleles of Oca2     (23 strains)

Research Applications

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

Oca2p-un related

Dermatology Research
Color and White Spotting Defects

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

References

Additional References

Price and Supply Information

Strain Name: C57BL/6J-Oca2p-un/J
Stock Number: 000028

Price Details

IMPORTANT NOTE: Prices are based on shipping destination. The shipping destinations are:

*Pricing for Shipping Destination selected:

        USA, Canada and Mexico

Price(s) in US dollars ($)
Cryorecovery Fee $1900.00

Supply Details

Standard SupplyRepository-Cryopreserved. Must Be Recovered. Please refer to pricing and supply notes for further information.
Supply Notes Cryorecovery - Standard.
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 males and two females (two pairs) will be provided, 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 delivery time to approximately 25 weeks. At least one member of each pair will be of known genotype and will carry the mutation if it is a mutant strain. Please note that 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. Price represents a repository maintenance fee, which includes the cost of recovery of the strain from the cryopreservation resource and the periodic replacement of the frozen embryos used for recovery.

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.

LicensingSee General Terms and Conditions below  
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View Control Pricing Information for JAX® Strains.

General Terms and Conditions

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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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