Overview

This strain carries two pink-eyed dilution mutant alleles that affect eye and coat pigmentation.

Genetic overview

Genetic Background	Generation

Oca2^p-d

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

Research Applications

Dermatology Research
Mouse/Human Gene Homologs
Reproductive Biology Research

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Base Price

Starting at:

$2,854.50 Domestic price Cryo Recovery

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Details

Important Note

Embryos recovered from cryopreservation will carry either the Oca2^p-d mutant allele or the Oca2^p-6H mutant allele.

Detailed Description

Mice carrying the X-irradiation induced Oca2^p-6H mutant allele are described as being viable, but are small sized with a jerky gait. Viable males are sterile and females are poor breeders.

Mice carrying the X-irradiation induced Oca2^p-d mutant allele are described as being viable, normal size, and both sexes fertile.

The phenotype for this strain carrying both recessive pink-eye mutants is unavailable.

Development

Embryos from males heterozygous for the two recessive pink-eye mutant alleles mated to C57BL/6J females were cryopreserved in 1982 at generation N2F13N1.

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-6H

Allele Symbol: Oca2^p-6H

Allele Name	pink-eyed dilution 6 Harwell
Allele Type	Radiation induced
Allele Synonym(s)	Herc2^p-6H; p^6H
Gene Symbol and Name	Oca2, oculocutaneous albinism II
Gene Synonym(s)
Strain of Origin	(C3H/HeH x 101/H)F1
Chromosome	7
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.

Disease/Phenotype

Disease Terms

Research Areas By Phenotype

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

Genotype: Oca2^p-6H related

Dermatology Research
- Color and White Spotting 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-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

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

abnormal coat/hair pigmentation

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

vision/eye phenotype

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

Genotype: Oca2^p-6H/Oca2^p-6H
involves: 101/H * C3H/HeH

endocrine/exocrine gland phenotype

small seminiferous tubules

testis hypoplasia

small testis
- testes are less than half the normal size

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
- same as for p, pink-eyed dilution: yellow on agouti background

behavior/neurological phenotype

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

abnormal gait
- jerky, hesitant movement

nervous

mammalian phenotype

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

abnormal eye pigmentation
- diluted eye color appears pink

diluted coat color
- same as for p, pink-eyed dilution: yellow on agouti background
- 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 spermiogenesis

abnormal gametogenesis

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

small testis
- testes are less than half the normal size

abnormal spermatid morphology
- many spermatids have two or more nuclei and maturing sperm have abnormalities of the head including giant sperm with multiple tails

enlarged sperm head

abnormal sperm head morphology

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

infertility

testis hypoplasia

abnormal gametes

male infertility

small seminiferous tubules

abnormal oogenesis
- although maturing follicles are found histologically in ovaries, there is a decrease in the number of corpora lutea

abnormal sperm flagellum morphology

abnormal spermatogenesis
- sertoli cells and spermatogonia are found histologically in testes but no normal mature sperm

vision/eye phenotype

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

abnormal eye pigmentation
- diluted eye color appears pink

cellular phenotype

abnormal sperm flagellum morphology

abnormal sperm head morphology

abnormal spermatid morphology
- many spermatids have two or more nuclei and maturing sperm have abnormalities of the head including giant sperm with multiple tails

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

enlarged sperm head

abnormal gametes

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

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

References

Additional - Oca2^p-6H related

Additional - Oca2^p-d related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Genotyping resources and troubleshooting
Citation
When using the STOCK Oca2^p-d/Oca2^p-6H/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #000823 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 for Oca2<p-d>, Heterozygous for Oca2<p-6H>

Payment Terms and Conditions

Terms are granted by individual review and stated on the customer invoice(s) and account statement. These transactions are payable in U.S. currency within the granted terms. Payment for services, products, shipping containers, and shipping costs that are rendered are expected within the payment terms indicated on the invoice or stated by contract. Invoices and account balances in arrears of stated terms may result in The Jackson Laboratory pursuing collection activities including but not limited to outside agencies and court filings.

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

Questions about Terms of Use

Licensing Information

Phone: 207-288-6470

Email: TechTran@jax.org

Genetic overview

Research Applications

Base Price

Important Note

Detailed Description

Development

Oca2p-d

Allele Symbol: Oca2p-d

Oca2p-6H

Allele Symbol: Oca2p-6H

Disease Terms

Research Areas By Phenotype

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

Genotype: Oca2p-6H related

Genotype: Oca2p-d related

Mammalian Phenotype Terms by Genotype

Genotype: Oca2p-d/Oca2p-dNot Specified

integument phenotype

mammalian phenotype

pigmentation phenotype

vision/eye phenotype

Genotype: Oca2p-6H/Oca2p-6Hinvolves: 101/H * C3H/HeH

endocrine/exocrine gland phenotype

growth/size/body region phenotype

integument phenotype

behavior/neurological phenotype

mammalian phenotype

pigmentation phenotype

reproductive system phenotype

vision/eye phenotype

cellular phenotype

References

Additional - Oca2p-6H related

Additional - Oca2p-d related

Genotyping Protocols

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

Oca2^p-d

Allele Symbol: Oca2^p-d

Oca2^p-6H

Allele Symbol: Oca2^p-6H

Genotype: Oca2^p-6H related

Genotype: Oca2^p-d related

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

Genotype: Oca2^p-6H/Oca2^p-6H
involves: 101/H * C3H/HeH

Additional - Oca2^p-6H related

Additional - Oca2^p-d related