Strain Name:

STOCK Oca2p-d/Oca2p-6H/J

Stock Number:

000823

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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/p6H/J    (Changed: 11-FEB-08 )
STOCK pd/Herc2p-6H/J    (Changed: 15-DEC-04 )
STOCK pd/p6H/J    (Changed: 15-DEC-04 )
Type Mutant Stock; Radiation Induced Mutation;
Additional information on Genetically Engineered and Mutant Mice.
Visit our online Nomenclature tutorial.
Specieslaboratory mouse
GenerationN2F13N1p
Generation Definitions

Related Strains

Strains carrying   Oca2p-d allele
001585   STOCK Oca2p-d/Oca2p-25H/J
001747   STOCK Oca2p-d/Oca2p-cp/J
View Strains carrying   Oca2p-d     (2 strains)

View Strains carrying other alleles of Oca2     (23 strains)

Phenotype

Phenotype Information

View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      assigned by genotype

The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.

Oca2p-6H/Oca2p-6H

        involves: 101/H * C3H/HeH
  • pigmentation phenotype
  • abnormal eye pigmentation
    • diluted eye color appears pink   (MGI Ref ID J:15082)
    • reduced eye pigmentation
      • eye pigment is reduced to approximately the same color as in the original pink eye mutants   (MGI Ref ID J:5219)
  • diluted coat color
    • same as for p, pink-eyed dilution: yellow on agouti background   (MGI Ref ID J:15082)
    • coat color is lighter than in the original pink eye mutants   (MGI Ref ID J:5219)
  • behavior/neurological phenotype
  • abnormal gait
    • jerky, hesitant movement   (MGI Ref ID J:13720)
  • impaired coordination
    • homozygotes are described as active, nervous and a little uncoordinated   (MGI Ref ID J:5219)
  • nervous   (MGI Ref ID J:5219)
  • vision/eye phenotype
  • abnormal eye pigmentation
    • diluted eye color appears pink   (MGI Ref ID J:15082)
    • reduced eye pigmentation
      • eye pigment is reduced to approximately the same color as in the original pink eye mutants   (MGI Ref ID J:5219)
  • reproductive system phenotype
  • abnormal gametogenesis   (MGI Ref ID J:5219)
    • abnormal gametes   (MGI Ref ID J:5219)
      • abnormal sperm flagellum morphology   (MGI Ref ID J:5219)
      • abnormal sperm head morphology   (MGI Ref ID J:5219)
        • abnormal acrosome morphology
          • electron microscopy reveals that acrosome development is frequently abnormal, the proacrosome is sometimes duplicated, the proacrosomal vesicle and underlying nuclear membrane are sometimes flattened or irregular in shape and vesicular inclusions can be seen in developing acrosomes   (MGI Ref ID J:5219)
        • enlarged sperm head   (MGI Ref ID J:5219)
    • abnormal oogenesis
      • although maturing follicles are found histologically in ovaries, there is a decrease in the number of corpora lutea   (MGI Ref ID J:49046)
    • abnormal spermatogenesis
      • sertoli cells and spermatogonia are found histologically in testes but no normal mature sperm   (MGI Ref ID J:49046)
      • abnormal sperm flagellum morphology   (MGI Ref ID J:5219)
      • abnormal sperm head morphology   (MGI Ref ID J:5219)
        • abnormal acrosome morphology
          • electron microscopy reveals that acrosome development is frequently abnormal, the proacrosome is sometimes duplicated, the proacrosomal vesicle and underlying nuclear membrane are sometimes flattened or irregular in shape and vesicular inclusions can be seen in developing acrosomes   (MGI Ref ID J:5219)
        • enlarged sperm head   (MGI Ref ID J:5219)
      • abnormal spermatid morphology
        • many spermatids have two or more nuclei and maturing sperm have abnormalities of the head including giant sperm with multiple tails   (MGI Ref ID J:5219)
        • a small number of multinucleated giant rounded spermatids can be found in the germinal epithelium   (MGI Ref ID J:5219)
      • abnormal spermiogenesis   (MGI Ref ID J:5219)
    • decreased male germ cell number
      • fewer sperm tails are counted in the lumina of the spermatic tubules indicative of a reduced number of spermatogonia and sperm   (MGI Ref ID J:5219)
  • infertility   (MGI Ref ID J:5219)
    • male infertility   (MGI Ref ID J:5219)
  • small seminiferous tubules   (MGI Ref ID J:5219)
  • small testis
    • testes are less than half the normal size   (MGI Ref ID J:5219)
    • testis hypoplasia   (MGI Ref ID J:5219)
  • endocrine/exocrine gland phenotype
  • small seminiferous tubules   (MGI Ref ID J:5219)
  • small testis
    • testes are less than half the normal size   (MGI Ref ID J:5219)
    • testis hypoplasia   (MGI Ref ID J:5219)
  • growth/size phenotype
  • decreased body size
    • homozygotes are smaller at birth and most weigh less as adults than their littermate controls   (MGI Ref ID J:5219)
    • decreased body weight   (MGI Ref ID J:5219)
  • skeleton phenotype
  • *normal* skeleton phenotype
    • no malocclusion or dental defects are found   (MGI Ref ID J:5219)
  • integument phenotype
  • diluted coat color
    • same as for p, pink-eyed dilution: yellow on agouti background   (MGI Ref ID J:15082)
    • coat color is lighter than in the original pink eye mutants   (MGI Ref ID J:5219)
View Research Applications

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

Oca2p-6H related

Dermatology Research
Color and White Spotting Defects

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

Oca2p-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 provided by MGI

 
Allele Symbol Oca2p-6H
Allele Name pink-eyed dilution 6 Harwell
Allele Type Radiation induced
Common Name(s) Herc2p-6H; p6H;
Strain of Origin(C3H/HeH x 101/H)F1
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;
Associated Marker Note Affected-Count: 1Af1-Gene: MGI:103234
General Note This mutation arose in descendants of x-ray treated mice (J:15082). Homozygotes resemble p/p mice in eye and coat color, but are small and show a nervous, jerky behavior (J:13720). No dental abnormalities are found. Males are sterile, with a high proportion of abnormal sperm (multinucleated, multitailed, and acrosomal defects) and a reduced proportion of gonadotropic cells 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 hybridization of a 0.39 kb probe, derived from retroviral-like intracisternal particle sequence, to genomic DNA showed that p-region sequence is deleted in homozygous mutant mice. The first 624 amino acids are encoded in the neighboring predicted Herc2 protein, but are then followed by 27 novel amino acids and a premature termination site from an IAP element. The remaining carboxy terminal 4212 amino acids of the Herc2 protein are lost. [MGI Ref ID J:100221] [MGI Ref ID J:11138]
 
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


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Additional References

Oca2p-6H related

Brilliant MH; Gondo Y; Eicher EM. 1991. Direct molecular identification of the mouse pink-eyed unstable mutation by genome scanning. Science 252(5005):566-9. [PubMed: 1673574]  [MGI Ref ID J:11138]

Culiat CT; Stubbs L; Nicholls RD; Montgomery CS; Russell LB; Johnson DK; Rinchik EM. 1993. Concordance between isolated cleft palate in mice and alterations within a region including the gene encoding the beta 3 subunit of the type A gamma-aminobutyric acid receptor. Proc Natl Acad Sci U S A 90(11):5105-9. [PubMed: 8389469]  [MGI Ref ID J:12553]

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]

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]

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]

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]

Oak Ridge National Laboratory. 2005. Information obtained from the Oak Ridge National Laboratory Mutant Mouse Database (ORNL), Oak Ridge, TN Unpublished :.  [MGI Ref ID J:100221]

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

Phillips RJS. 1977. Description of the phenotypes of p-alleles (other than p) held at Harwell - correction Mouse News Lett 57:18.  [MGI Ref ID J:13720]

Phillips RJS. 1964. p<6H> Mouse News Lett 31:25.  [MGI Ref ID J:157683]

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]

Walkowicz M; Ji Y; Ren X; Horsthemke B; Russell LB; Johnson D ; Rinchik EM ; Nicholls RD ; Stubbs L. 1999. Molecular characterization of radiation- and chemically induced mutations associated with neuromuscular tremors, runting, juvenile lethality, and sperm defects in jdf2 mice. Mamm Genome 10(9):870-8. [PubMed: 10441737]  [MGI Ref ID J:56827]

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]

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

Health & Colony Maintenance Information

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, RG10/RG30.

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Cryopreserved

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Price (US dollars $)
Cryorecovery* $1980.00
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 for further information.

Supply Notes

  • Cryorecovery - Standard.
    We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. The total number of animals provided, their gender and genotype will vary. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 13 and 16 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. 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
Order this mouse

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $2574.00
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 for further information.

Supply Notes

  • Cryorecovery - Standard.
    We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. The total number of animals provided, their gender and genotype will vary. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 13 and 16 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. 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 for further information.

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