Overview

These mice are heterozygous for two different alleles of oculocutaneous albinism II (Oca2): Oca2^p-d (dark pink-eye) and Oca2^p-25H (pink-eyed dilution 25 Harwell). The compound heterozygotes have a color phenotype intermediate between those of the two homozygotes with eyes lighter at birth than those of Oca2^p-d mice, but not as light as those of Oca2^p mice, and darken by weaning.

Genetic overview

Genetic Background	Generation

Oca2^p-d

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

Oca2^p-25H

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

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Research Applications

Dermatology Research
Endocrine Deficiency Research
Mouse/Human Gene Homologs
Reproductive Biology Research

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$2,854.50 Domestic price Cryo Recovery

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Details

Detailed Description

Oca2^p-25H/Oca2^p-25H mice exhibit significant dilution of coat color with pink eyes, similar in appearance to Oca2^p/Oca2^p mice. The Oca2^p-25H phenotype also includes a slightly jerky gait with some tremor, small body size compared to control littermates, male sterility, female semisterility, and impaired maternal behavior, and the smaller-than-expected proportion of Oca2^p-25H homozygous intercross offspring implies reduced prenatal viability (Lyon et al. 1992, Phillips et al. 1977). The Oca2^p-25H mutation comprises an inversion of a segment of Chromsome 7 that alters the 5' end of the Oca2^p gene so that no detectable ptranscript is produced, accounting for the pigment-dilution phenotype (Gardner et al. 1992). The deletion also disrupts the Herc2/rjs gene proximal to Oca2^p so the transcript sequence diverges from wild-type after the first 8772 bp (of 15 kb in wild-type), resulting in a truncated protein and accounting for the non-pigment related aspects of the Oca2^p-25H phenotype (Lehman et al. 1998). Mice homozygous for Oca2^p-d are born with lightly pigmented eyes, darker than those of Oca2^p/Oca2^p mice, which darken by weaning and a coat color "considerably darkerthan 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. Oca2^p-d/Oca2^p-25H 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-25H 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 Suggestions

None Available

Additional Information

Considerations for Choosing Controls

Genetics

Oca2^p-d

Allele Symbol: Oca2^p-d

Allele Name	dark pink-eyed
Allele Type	Radiation induced
Allele Synonym(s)	p^d
Gene Symbol and Name	Oca2, oculocutaneous albinism II
Gene Synonym(s)
Strain of Origin	Not Specified
Chromosome	7
General Note	The molecular basis for this mutant allele has not been determined.

Oca2^p-25H

Allele Symbol: Oca2^p-25H

Allele Name	pink-eyed dilution 25 Harwell
Allele Type	Radiation induced
Allele Synonym(s)	Herc2^p-25H; p^25H
Gene Symbol and Name	Oca2, oculocutaneous albinism II
Gene Synonym(s)
Strain of Origin	Not Specified
Chromosome	7
General Note	p^25H, p-25 Harwell, recessive. This allele was neutron-irradiation-induced. Homozygotes are very similar to p^6H homozygotes, except that sperm morphology differs; p^25H homozygous males have a lower proportion of normal sperm (J:5219, J:5501, J:15082, 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 reduced fertility. In addition, in p^25H homozygotes of both sexes, the pars nervosa of the pituitary contains degenerating nerve axons (J:5508), and the hypothalamus has reduced binding capacity for estradiol-17ÃŸ (J:5219). 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 an inversion of a segment of Chromsome 7 that alters the 5'end of the Oca2^p gene preventing transcription of p.

Disease/Phenotype

Disease Terms

Research Areas By Phenotype

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

Genotype: Oca2^p-25H related

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

Genotype: Oca2^p-d related

Dermatology Research
- Color and White Spotting Defects
Reproductive Biology Research
- Fertility 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-25H/Oca2^p-25H
Not Specified

behavior/neurological phenotype

abnormal maternal nurturing
- females rarely have more than one litter and that litter is usually small with pups rarely surviving more than 24 hours
- time lapse photography 12 to 24 hours after birth shows that homozygous mothers fail to make a nest of keep the pups together, although there is no hostility toward the pups

abnormal pup retrieval

impaired coordination
- homozygotes are described as active, nervous a little uncoordinated

nervous

endocrine/exocrine gland phenotype

small seminiferous tubules

small testis
- testes are less than half the normal size

testis hypoplasia

growth/size/body region phenotype

decreased body size
- homozygotes are smaller at birth and most weigh less as adults than their littermate controls

decreased body weight

integument phenotype

diluted coat color
- coat color is lighter than in the original pink eye mutants

mammalian phenotype

endocrine/exocrine gland phenotype
- Normal - histology of mammary gland hours after giving birth and the presence of milk in the pups' stomachs indicate that females lactate normally

skeleton phenotype
- Normal - no malocclusion or dental defects are found

pigmentation phenotype

decreased eye pigmentation
- eye pigment is reduced to approximately the same color as in the original pink eye mutants

diluted coat color
- coat color is lighter than in the original pink eye mutants

reproductive system phenotype

abnormal acrosome morphology
- een in developing acrosomes
- 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

abnormal sperm flagellum morphology

abnormal sperm head morphology

abnormal spermatid morphology
- a small number of multinucleated giant rounded spermatids can be found in the germinal epithelium
- many spermatids have two or more nuclei and maturing sperm have abnormalities including giant sperm with multiple tails

decreased male germ cell number
- fewer sperm tails are found in the lumina of the spermatic tubules indicative of a reduced number of spermatogonia and sperm

enlarged sperm head

multinucleated giant male germ cells
- a small number of multinucleated giant rounded spermatids can be found in the germinal epithelium

small seminiferous tubules

small testis
- testes are less than half the normal size

testis hypoplasia

vision/eye phenotype

decreased eye pigmentation
- eye pigment is reduced to approximately the same color as in the original pink eye mutants

cellular phenotype

abnormal acrosome morphology
- een in developing acrosomes
- 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

abnormal sperm flagellum morphology

abnormal sperm head morphology

abnormal spermatid morphology
- a small number of multinucleated giant rounded spermatids can be found in the germinal epithelium
- many spermatids have two or more nuclei and maturing sperm have abnormalities including giant sperm with multiple tails

decreased male germ cell number
- fewer sperm tails are found in the lumina of the spermatic tubules indicative of a reduced number of spermatogonia and sperm

enlarged sperm head

multinucleated giant male germ cells
- a small number of multinucleated giant rounded spermatids can be found in the germinal epithelium

Genotype: Oca2^p-25H/Oca2⁺
Not Specified

reproductive system phenotype

decreased litter size
- intercrossed heterozygotes produce an average litter size of 5.65, smaller than the 6.49 of wildtype control breeders

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

integument phenotype

abnormal coat/hair pigmentation

diluted coat color
- only slightly diluted compared with wild-type

mammalian phenotype

reproductive system phenotype
- unlike some mutant Oca2, pink-eyed dilution alleles, this allele does not affect fertility

pigmentation phenotype

abnormal coat/hair pigmentation

decreased eye pigmentation
- eyes darken by weaning age
- only slightly pigmented at birth

diluted coat color
- only slightly diluted compared with wild-type

vision/eye phenotype

decreased eye pigmentation
- eyes darken by weaning age
- only slightly pigmented at birth

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
Hunt DM; Johnson DR. 1971. Abnormal spermiogenesis in two pink-eyed sterile mutants in the mouse. J Embryol Exp Morphol 26(1):111-21PubMed: 5565073 MGI: J:5219
Johnson DR; Hunt DM. 1975. Endocrinological findings in sterile pink-eyed mice. J Reprod Fertil 42(1):51-8PubMed: 162962 MGI: J:5508
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
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):319-26PubMed: 9770375 MGI: 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):72-6PubMed: 8421497 MGI: J:3600
Wolfe HG. 1977. Effects on sperm morphology by alleles at the pink-eyed dilution locus in mice. Genetics 85(2):303-8PubMed: 863229 MGI: J:5808

Additional - Oca2^p-25H related

Additional - Oca2^p-d 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-25H homozygotes necessitate maintaining this mutation by mating compound heterozygotes. Oca2^p-25H/Oca2^p-25H 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-d/Oca2^p-25H/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #001585 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

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Live Mouse

Age

Genotype

Price

weeks

Cryorecovery - Pricing

Service/Product	Description	Price
	Compound Heterozygous for allele Oca2<p-d> and allele Oca2<p-25H>

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

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Genetic overview

Research Applications

Base Price

Detailed Description

Development

Control Suggestions

Additional Information

Oca2p-d

Allele Symbol: Oca2p-d

Oca2p-25H

Allele Symbol: Oca2p-25H

Disease Terms

Research Areas By Phenotype

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

Genotype: Oca2p-25H related

Genotype: Oca2p-d related

Mammalian Phenotype Terms by Genotype

Genotype: Oca2p-25H/Oca2p-25HNot Specified

behavior/neurological phenotype

endocrine/exocrine gland phenotype

growth/size/body region phenotype

integument phenotype

mammalian phenotype

pigmentation phenotype

reproductive system phenotype

vision/eye phenotype

cellular phenotype

Genotype: Oca2p-25H/Oca2+Not Specified

reproductive system phenotype

Genotype: Oca2p-d/Oca2p-dNot Specified

integument phenotype

mammalian phenotype

pigmentation phenotype

vision/eye phenotype

References

Additional References

Additional - Oca2p-25H related

Additional - Oca2p-d 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-d

Allele Symbol: Oca2^p-d

Oca2^p-25H

Allele Symbol: Oca2^p-25H

Genotype: Oca2^p-25H related

Genotype: Oca2^p-d related

Genotype: Oca2^p-25H/Oca2^p-25H
Not Specified

Genotype: Oca2^p-25H/Oca2⁺
Not Specified

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

Additional - Oca2^p-25H related

Additional - Oca2^p-d related