Oca2<p-un> Spontaneous Allele Detail MGI Mouse (MGI:1856123)

Oca2^p-un
Spontaneous Allele Detail

Nomenclature

Symbol:	Oca2^p-un
Name:	oculocutaneous albinism II; pink-eyed dilution unstable
MGI ID:	MGI:1856123
Synonyms:	p', p^m, p^un
Gene:	Oca2 Location: Chr7:63495130-63791887 bp, + strand Genetic Position: Chr7, 28.0 cM

Oca2^p-un+J/Oca2^p-un+J, Oca2^p-un/Oca2^p-un and mosaic mice

Show the 1 image(s) involving this allele.

Mutation
origin

Strain of Origin:

C57BL/6J

Mutation
description

Allele Type:	Spontaneous
Mutation:	Transposon insertion
	High-resolution Southern blots of genomic DNA hybridized to dispersed and moderately repetitive DNA sequences showed this allele has a DNA duplication derived from a sequence family encoding the retroviral-like intracisternal A particles. The IAP duplication is part of a much larger duplicated segment of DNA. (J:11138)
Inheritance:	Recessive

Find Mice (IMSR)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)

Carrying this Mutation:	Mouse Strains: 3 strains available Cell Lines: 0 lines available
Carrying any Oca2 Mutation:	166 strains or lines available

Phenotype
summary

Phenotype Summary by Mammalian Phenotype terms

(show or hide all annotated terms)

Genotypes are listed in the next section.

Key:

hm	homozygous	ht	heterozygous
cn	conditional genotype	cx	complex: > 1 genome feature
tg	involves transgenes	ot	other: hemizygous, indeterminate,...
N	normal phenotype		expected model not found

Affected Systems	Genotypes:	hm1	ht2
pigmentation		√	√
pigmentation phenotype			N
abnormal coat/hair pigmentation		√	√
diluted coat color		√
variegated coat color			√
mottled coat		√
abnormal eye pigmentation		√	√
		hm1	ht2
skin/coat/nails		√	√
abnormal coat/hair pigmentation		√	√
diluted coat color		√
variegated coat color			√
mottled coat		√
		hm1	ht2
vision/eye		√	√
abnormal eye pigmentation		√	√

Phenotypic
data by
genotype

Phenotypic Data by Genotype

(show or hide all phenotypic details)

Genotype	Allelic Composition	Genetic Background
hm1	Oca2^p-un/Oca2^p-un	C57BL/6J
pigmentation abnormal coat/hair pigmentation (J:85780) diluted coat color (J:85780) mottled coat (J:85780, J:5226, J:11138) extent varies from a few isolated black hairs to heavily mottled (J:85780) coats of 1.8% of offspring of homozygous parents are gray/black mottled (J:5226) mottling indicates reversion to wild-type coat color which occurs 3-5 times more frequent than for other p alleles or recessive muations at other coat color loci (J:11138) revertant lines can be established from inter se matings of mottled mice or matings of homozygous pink-unstabe mice to mottled mice (J:11138) abnormal eye pigmentation (J:85780) mice with mottled coats have eye pigmentation ranging from pink-eyed to mosaic to full color eye pigmentation is often bilaterally asymmetrical skin/coat/nails abnormal coat/hair pigmentation (J:85780) diluted coat color (J:85780) mottled coat (J:85780, J:5226, J:11138) extent varies from a few isolated black hairs to heavily mottled (J:85780) coats of 1.8% of offspring of homozygous parents are gray/black mottled (J:5226) mottling indicates reversion to wild-type coat color which occurs 3-5 times more frequent than for other p alleles or recessive muations at other coat color loci (J:11138) revertant lines can be established from inter se matings of mottled mice or matings of homozygous pink-unstabe mice to mottled mice (J:11138) vision/eye abnormal eye pigmentation (J:85780) mice with mottled coats have eye pigmentation ranging from pink-eyed to mosaic to full color eye pigmentation is often bilaterally asymmetrical
Genotype	Allelic Composition	Genetic Background
ht2	Oca2^p-un/Oca2^p-un+J	C57BL/6J-Oca2^p-un
pigmentation pigmentation phenotype (J:11138) abnormal coat/hair pigmentation (J:11138) variegated coat color (J:11138) heterozygous mice are mosaic for gray and black coat color abnormal eye pigmentation (J:11138) eye color may be mosaic, pink-eyed and black or be nearly devoid of pigment (pink) or entirely black skin/coat/nails abnormal coat/hair pigmentation (J:11138) variegated coat color (J:11138) heterozygous mice are mosaic for gray and black coat color vision/eye abnormal eye pigmentation (J:11138) eye color may be mosaic, pink-eyed and black or be nearly devoid of pigment (pink) or entirely black

Notes

p^un, pink-eyed unstable, recessive. This mutation arose spontaneously in the C57BL/6J strain. Homozygotes resemble p/p mice phenotypically, but pun reverts somatically to wild-type with high frequency. The reversion rate varies with age, being highest at 2 and at 10 days of gestation, and with genotype of parents, being higher in p^un homozygous progeny of heterozygous parents (p^un/+ or p^un/p mated inter se) than of homozygous pun parents (J:5526). Whitney and Lamoreux (J:6739) suggest that pun may have been produced by insertion of a transposable element into the wild-type p locus gene, frequent excision of the element being responsible for the high reversion rate. Subsequently Brilliant et al. (J:2230) have shown that in the pun mutation, coding sequences of the p gene are interrupted by a head-to-tail tandem duplication of genomic DNA, one copy of which appears to be lost in revertant mice (J:3762). In the pigmented retinal epithelium, darkly pigmented revertant cells occur with greater frequency in the more distal or anterior part of the epithelial layer than in the proximal part near the optic nerve, indicating that the rate of reversion is conditioned by the tissue environment (J:7305). Homozygous p^un mice, in common with some other mutations that reduce pigmentation, have a reduced number of projections of retinal ganglion cells to the ipsilateral lateral geniculate nucleus (J:6064).

References

Original:	J:85780 Wolfe HG, "Two unusual mutations affecting coat color in the mouse" Proc 11th Int Cong Genet 1963;():251
All:	25 reference(s)

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