Oca2<p-un+J> Spontaneous Allele Detail MGI Mouse (MGI:2152523)

Oca2^p-un+J
Spontaneous Allele Detail

Nomenclature

Symbol:	Oca2^p-un+J
Name:	oculocutaneous albinism II; wild type revertant Jackson
MGI ID:	MGI:2152523
Synonyms:	p^un+1J, p^un+J
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-Oca2^p-un

Mutation
description

Allele Type:	Spontaneous
Mutation:	Deletion
	Removal, presumably by unequal homologous recombination, of an ~70 kb DNA duplication derived from retroviral-like intracisternal A particles that characterizes p^un, restores wild-type coat pigmentation. (J:3762)
Inheritance:	Dominant

Find Mice (IMSR)

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

Carrying this Mutation:	Mouse Strains: 1 strain 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	N
abnormal coat/hair pigmentation		√	√
variegated coat color			√
abnormal eye pigmentation		√	√
		hm1	ht2
skin/coat/nails		√	√
abnormal coat/hair pigmentation		√	√
variegated coat color			√
		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+J/Oca2^p-un+J	C57BL/6J-Oca2^p-un
pigmentation pigmentation phenotype (J:11138) coat pigmentation reverts to normal non-agouti black abnormal coat/hair pigmentation (J:11138) gray coat pigment reverts to normal nonagouti black abnormal eye pigmentation (J:11138) eye color reverts to black pigmentation skin/coat/nails abnormal coat/hair pigmentation (J:11138) gray coat pigment reverts to normal nonagouti black vision/eye abnormal eye pigmentation (J:11138) eye color reverts to black pigmentation
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

References

Original:	J:11138 Brilliant MH et al., "Direct molecular identification of the mouse pink-eyed unstable mutation by genome scanning." Science 1991 Apr 26;252(5005):566-9
All:	3 reference(s)

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