STOCK Oca2^p-d/Oca2^p-6H/J

Stock number: 000823
Research areas: Dermatology Research, Mouse/Human Gene Homologs, Reproductive Biology Research

Description

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

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.

Allele

Symbol: Oca2^p-d
Name: dark pink-eyed
MGI accession ID: MGI:1856117
Generation method: Radiation induced
Synonyms: p^d
Marker symbol: Oca2
Marker name: oculocutaneous albinism II
Marker synonyms: BEY; BEY1; BEY2; BOCA; D15S12; D7H15S12; EYCL; EYCL2; EYCL3; HCL3; P; PED; SHEP1; SLC13B1
Chromosome: 7
Strain of origin: Not Specified
General note: The molecular basis for this mutant allele has not been determined.

Allele

Symbol: Oca2^p-6H
Name: pink-eyed dilution 6 Harwell
MGI accession ID: MGI:1856125
Generation method: Radiation induced
Synonyms: Herc2^p-6H; p^6H
Marker symbol: Oca2
Marker name: oculocutaneous albinism II
Marker synonyms: BEY; BEY1; BEY2; BOCA; D15S12; D7H15S12; EYCL; EYCL2; EYCL3; HCL3; P; PED; SHEP1; SLC13B1
Chromosome: 7
Strain of origin: (C3H/HeH x 101/H)F1
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.
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).