JAX Mice Database - albinism, oculocutaneous type II, OCA2

Search Criteria: Research Area is "Mouse/Human Gene Homologs: albinism, oculocutaneous type II, OCA2"

JAX^® Mice Strains

Stock Number	Strain Name Strain Description	Standard Supply
001618	STOCK Oca2^p/Oca2^p Prop1^df/J	Repository- Live
	Mice homozygous for the Ames dwarf spontaneous mutation (Prop1^df) resemble mice homozygous for the Snell's dwarf mutation (Pit1^dw). Homozygous Ames dwarf mutant mice show growth retardation after the first postnatal week, and weight at 2 months is only about one-half normal. Females and most males are sterile. There is no detectable growth hormone or prolactin. Ames dwarf mice have a secondary immune deficiency presumably resulting from the lack of growth hormone.
000004	ABP/LeJ	Repository-Cryopreserved
	Mice homozygous for the Tgfa^wa1 spontaneous mutation are recognizable at 2 or 3 days of age by their curly whiskers. The first coat is strongly waved and straight in later coats. Most of the whiskers also become straight, but the guard hairs are curved and shorter than normal. Some homozygotes have eyelids open at birth. Mice homozygous for the recessive Adamts20^bt mutation have a dorsal and a ventral unpigmented patch posterior to the midline of the trunk with the dorsal patch usually being larger than the ventral patch. These patches run in a more transverse orientation across the mouse than lengthwise and often extend around the sides of the mouse to form a white belt. The size of the patches can vary from approximately 1 to 20 percent of the surface. Unlike other spotting mutations, no variability in phenotype was identified when belted was transferred onto the C57BL/6J or JU/CtLm backgrounds (Lamoreaux 1999). Murray and Snell reported findin ..... For more information please see the full descriiption on the strain data sheet
000577	B6 x STOCK a Oca2^p Hps5^ru2 Ednrb^s/J	Repository-Cryopreserved

001059	B6By.Cg-Oca2^p/J	Repository-Cryopreserved
	A normal-size Oca2^p mRNA is present in the skin of mice homozygous for the Oca2^p mutation, but in greatly reduced amounts; thus, this appears to be a hypomorphic rather than a null allele. B6By.Cg-Oca2^p/Oca2^p/J mice are grey with pink eyes. The Oca2^p mutation affects the amount of eumelanin (brown/black pigment) and the size and morphology of eumelanosomes (black pigment granules), but has little or no effect on pheomelanin (red/yellow pigment).
002460	C3H/HeJ-Oca2^p-J Is(7;1)40H/J	Repository-Cryopreserved

000513	C3H/HeJ-Oca2^p-J/J	Repository-Cryopreserved
	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).
001136	C57BL/6J-Oca2^p-un+2J/J	Repository-Cryopreserved
	Homozygotes and heterozygotes for this revertant allele are phenotypically indistinguishable from wild-type.
001506	C57BL/6J-Oca2^p-un+3J/J	Repository-Cryopreserved
	Homozygotes and heterozygotes for this revertant allele are phenotypically indistinguishable from wild-type.
001810	C57BL/6J-Oca2^p-un+4J/J	Repository-Cryopreserved
	Homozygotes and heterozygotes for this revertant allele are phenotypically indistinguishable from wild-type.
001513	C57BL/6J-Oca2^p-un+5J/J	Repository-Cryopreserved
	Homozygotes and heterozygotes for this revertant allele are phenotypically indistinguishable from wild-type.
001499	C57BL/6J-Oca2^p-un+6J/J	Repository-Cryopreserved
	Homozygotes and heterozygotes for this revertant allele are phenotypically indistinguishable from wild-type.
001033	C57BL/6J-Oca2^p-un+J/J	Repository-Cryopreserved
	Homozygotes and heterozygotes of this revertant allele are phenotypically indistinguishable from wild-type.
000028	C57BL/6J-Oca2^p-un/J	Repository-Cryopreserved
	The pink-eyed unstable (Oca2^p-un) mutation comprises a 70-kb, head-to-tail duplication of a transcribed region of the Oca2^p gene. Oca2^p-un homozygotes have a greatly diluted coat color and pink eyes; however, approximately 3.5% of Oca2^p-un/Oca2^p-un mice are mosaic for wild-type coat color (Melvold et al., 1971) because of somatic reversion of the mutation involving loss of the duplicated segment (Brilliant et al.1991, Gondo et al. 1993).
000619	FS/EiJ	Repository-Cryopreserved
	The FS/Ei strain was originally used as a linkage testing stock for gene mapping. It is homozygous for several visible recessive mutations including brown (Tyrp1^b), pink-eyed dilution (Oca2^p), chinchilla (Tyr^c-ch), frizzy (fr), and the neurological mutation shaker 1 (Myo7a^sh1). It is also homozygous for a couple allelic variants that can be easily typed (Mod2^b and Hbb^d). Mice homozygous for the shaker 1 show circling, head-tossing, deafness, and hyperactivity characteristic of this type of mutant mice. Viability is normal, and breeding ability is high for a circling mutant. Homozygous mutant mice are most often deaf and swim well on the surface of water up to 4 weeks of age and more but lose the ability later. The degenerative changes of the labyrinth may occur a little later than in some of the other waltzing mutants. By light microscopy, the changes are seen to consist ..... For more information please see the full descriiption on the strain data sheet
000306	STOCK Dll3^pu + Tyr^c-ch/+ Oca2^p Tyr^c-ch/J	Repository-Cryopreserved

001584	STOCK Oca2^p-J/Oca2^p-bs/J	Repository-Cryopreserved
	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 direc ..... For more information please see the full descriiption on the strain data sheet
001585	STOCK Oca2^p-d/Oca2^p-25H/J	Repository-Cryopreserved
	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 seq ..... For more information please see the full descriiption on the strain data sheet
000823	STOCK Oca2^p-d/Oca2^p-6H/J	Repository-Cryopreserved

001747	STOCK Oca2^p-d/Oca2^p-cp/J	Repository-Cryopreserved
	Mice homozygous for Oca2^p-d (dark pink-eye) are born with lightly pigmented eyes, darker than those of Oca2^p/Oca2^p mice, which darken by weaning and a coat color "considerably darker than 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. Most Oca2^p-cp (p-cleft palate, formerly p^11H) homozygotes die soon after birth with cleft palate; the few that survive to adulthood exhibit significant dilution of coat co ..... For more information please see the full descriiption on the strain data sheet

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JAX® Mice Strains

JAX^® Mice Strains