Overview

These mice are heterozygous for two different alleles of oculocutaneous albinism II Oca2^p-J (pink-eyed dilution Jackson) and Oca2^p-bs (pink-eyed dilution black eyed sterile). The compound heterozygotes have a color phenotype intermediate between those of the two homozygotes.

Genetic overview

Genetic Background	Generation

Oca2^p-bs

Allele Type	Gene Symbol	Gene Name
Radiation induced	Oca2	oculocutaneous albinism II

Oca2^p-J

Allele Type	Gene Symbol	Gene Name
Spontaneous	Oca2	oculocutaneous albinism II

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Research Applications

Dermatology Research
Reproductive Biology Research
Mouse/Human Gene Homologs

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Base Price

Starting at:

$2,854.50 Domestic price Cryo Recovery

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Details

Detailed Description

Oca2^p-J/Oca2^p-J mice exhibit significant dilution of coat color with pink eyes, a phenotype similar to that produced by Oca2^p/Oca2^p. The Oca2^p-J mutation is a partial deletion of the gene that completely ablates Oca2^p function (Oakey et al. 1996). Oca2^p-bs/Oca2^p-bs mice show a less extreme coat color dilution and have black eyes from birth; the phenotype of Oca2^p-bs homozygotes also includes stunted growth, jerky gait, male sterility, female semisterility, and impaired maternal behavior, and the smaller-than-expected proportion of Oca2^p-bs homozygous intercross offspring implies reduced prenatal viability (Lyon et al. 1992). The Oca2^p-bs mutation comprises a deletion that begins about 10 kb 5' of the Oca2^p locus and extends for about 8 kb in the proximal direction from it (Lehman et al. 1998). The deletion does not include any part of the transcribed Oca2^p sequence; the hypopigmentation of Oca2^p-bs/Oca2^p-bs mice may be due to a long-distance effect of the deletion or to some other, as yet undefined alteration of the Oca2^p sequence. The non-pigmentation aspects of the Oca2^p-bs phenotype result from the deletion of most of the Herc2 gene (Lehman et al. 1998). Oca2^p-J/Oca2^p-bs compound heterozygotes have a color phenotype intermediate between those of the two homozygotes, exhibit no behavioral abnormalities and are fertile.

Development

The Oca2^p-bs mutation was induced at the Medical Research Council Radiobiology Unit, Harwell, UK by neutron irradiation of a male mouse of unspecified lineage. Oca2^p-J occurred spontaneously in the C3H/HeJ strain at The Jackson Laboratory in 1974.

Control Suggestions

None Available

Additional Information

Considerations for Choosing Controls

Genetics

Oca2^p-bs

Allele Symbol: Oca2^p-bs

Allele Name	pink-eyed dilution black eyed sterile
Allele Type	Radiation induced
Allele Synonym(s)	Herc2^p-24H; Herc2^p-bs; p^24H; p^bs
Gene Symbol and Name	Oca2, oculocutaneous albinism II
Gene Synonym(s)
Strain of Origin	Not Specified
Chromosome	7
General Note	p^bs, pink-eyed dilution-black-eyed sterile (formerly p24H); recessive; 960-BP DEL; 320 AA DEL: Arose in descendants of neutron treated mice (J:15082, J:2108). Homozygotes have dark eyes at birth. The coat color in adults is slightly lighter than pd but darker than pdn. At weaning, homozygotes show a slightly jerky behavior (J:15082, J:13043). 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 blot analyses using cDNA probes from the pink-eyed dilution locus show that this allele comprises a 5' rearrrangement in the p gene. An intergenic deletion of 960-bp near the carboxy terminus of Herc2 deletes a stretch of 320 amino acids from the predicted protein, including the HECT domain. The overall deletion for this p-region mutant is ~8.0-kb.

Oca2^p-J

Allele Symbol: Oca2^p-J

Allele Name	pink-eyed dilution Jackson
Allele Type	Spontaneous
Allele Synonym(s)	p^J
Gene Symbol and Name	Oca2, oculocutaneous albinism II
Gene Synonym(s)
Strain of Origin	C3H/HeJ
Chromosome	7
Molecular Note	This allele was shown to be allelic to Oca2^p by a complementation test. Southern blot analysis of Sst1-digested genomic DNA from mice homozygous for this allele, probed with a 1.0-kb DraIII fragment derived from cDNA clone MC2701, revealed deletion of two exon-bearing fragments (6.9 and 10.0 kb) found in wild-type DNA. The deletion has been shown to result in loss from the transcript of 350 base pairs encompassing nucleotides 2195-2545, derived from exons 20-23, and to produce a frameshift resulting in a protein additonally lacking exon 24-encoded amino acids. The missing amino acids include the last part of transmembrane domain 9 and all of transmembrane domains 10-12.

Disease/Phenotype

Disease Terms

Research Areas By Phenotype

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

Genotype: Oca2^p-bs related

Dermatology Research
- Color and White Spotting Defects
Reproductive Biology Research
- Fertility Defects
Mouse/Human Gene Homologs
- albinism, oculocutaneous type II, OCA2

Genotype: Oca2^p-J related

Dermatology Research
- Color and White Spotting Defects
Mouse/Human Gene Homologs
- albinism, oculocutaneous type II, OCA2

Mammalian Phenotype Terms by Genotype

The following phenotype information is associated with a similar, but not exact match to this JAX^® Mice strain

Genotype: Oca2^p-bs/Oca2^p-bs
Not Specified

behavior/neurological phenotype

abnormal motor capabilities/coordination/movement

abnormal motor coordination/balance

jerky movement

growth/size/body region phenotype

abnormal postnatal growth/weight/body size

decreased body size

integument phenotype

diluted coat color
- color intermediate between homozygous p and homozygous p

pigmentation phenotype

diluted coat color
- color intermediate between homozygous p and homozygous p

reproductive system phenotype

abnormal fertility/fecundity

abnormal spermiogenesis
- abnormality not described

reduced male fertility
- 1 of 7 males tested with multiple females sired one litter

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):1121-4PubMed: 1509264 MGI: 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):6968-72PubMed: 1495987 MGI: J:2108
Oakey RJ; Keiper NM; Ching AS; Brilliant MH. 1996. Molecular analysis of the cDNAs encoded by the pun and pJ alleles of the pink-eyed dilution locus. Mamm Genome 7(4):315-6PubMed: 8661705 MGI: J:32816

Additional - Oca2^p-bs related

Additional - Oca2^p-J related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Genotyping resources and troubleshooting
Breeding Considerations

The male sterility, female semisterility and failure of females to nurture their young that are characteristic of Oca2^p-bs homozygotes necessitate maintaining this mutation by mating compound heterozygotes. Oca2^p-bs/Oca2^p-bs females may produce one or two litters, but the pups must be fostered to survive.
- Additional Breeding and Husbandry Support
Citation
When using the STOCK Oca2^p-J/Oca2^p-bs/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #001584 in your Materials and Methods section.

Animal Health Reports

Facility Barrier Level Descriptions

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200

Pricing & Availability

Cryo Recovery

Domestic
International

Live Mouse

Age

Genotype

Price

weeks

Cryorecovery - Pricing

Service/Product	Description	Price
	Heterozygous or Wild-type for Oca2<p-J>, Heterozygous or Wild-type for Oca2<p-bs>

Payment 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. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.

Terms Of Use

General Terms and Conditions

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Licensing Information

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JAX® Mice, Products & Services Conditions of Use

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Genetic overview

Research Applications

Base Price

Detailed Description

Development

Control Suggestions

Additional Information

Oca2p-bs

Allele Symbol: Oca2p-bs

Oca2p-J

Allele Symbol: Oca2p-J

Disease Terms

Research Areas By Phenotype

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

Genotype: Oca2p-bs related

Genotype: Oca2p-J related

Mammalian Phenotype Terms by Genotype

Genotype: Oca2p-bs/Oca2p-bsNot Specified

behavior/neurological phenotype

growth/size/body region phenotype

integument phenotype

pigmentation phenotype

reproductive system phenotype

References

Additional References

Additional - Oca2p-bs related

Additional - Oca2p-J related

Genotyping Protocols

Breeding Considerations

Citation

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200

Live Mouse

Cryorecovery - Pricing

Payment Terms and Conditions

The Jackson Laboratory's Genotype Promise

Terms Of Use

Licensing Information

JAX® Mice, Products & Services Conditions of Use

No Warranty

Credit for PRODUCTS or SERVICES

Animal Care and Use for SERVICES

No Liability

Oca2^p-bs

Allele Symbol: Oca2^p-bs

Oca2^p-J

Allele Symbol: Oca2^p-J

Genotype: Oca2^p-bs related

Genotype: Oca2^p-J related

Genotype: Oca2^p-bs/Oca2^p-bs
Not Specified

Additional - Oca2^p-bs related

Additional - Oca2^p-J related