Oca2<p-25H> Radiation induced Allele Detail MGI Mouse (MGI:1856126)

Oca2^p-25H
Radiation induced Allele Detail

Nomenclature

Symbol:	Oca2^p-25H
Name:	oculocutaneous albinism II; pink-eyed dilution 25 Harwell
MGI ID:	MGI:1856126
Synonyms:	Herc2^p-25H, p^25H
Gene:	Oca2 Location: Chr7:63495130-63791887 bp, + strand Genetic Position: Chr7, 28.0 cM

Mutation
origin

Strain of Origin:

Not Specified

Mutation
description

Allele Type:	Radiation induced
Mutation:	Inversion
	Southern blot analyses using cDNA probes from the pink-eyed dilution locus show that this allele comprises an inversion of a segment of Chromsome 7 that alters the 5'end of the Oca2^p gene preventing transcription of p. (J:2206)
Inheritance:	Recessive

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
behavior/neurological		√
impaired coordination		√
nervous		√
abnormal maternal nurturing		√
abnormal pup retrieval		√
		hm1	ht2
endocrine/exocrine glands		√
endocrine/exocrine glands phenotype		N
small seminiferous tubules		√
small testis		√
testicular hypoplasia		√
		hm1	ht2
growth/size		√
decreased body size		√
decreased body weight		√
		hm1	ht2
pigmentation		√
diluted coat color		√
reduced eye pigmentation		√
		hm1	ht2
reproductive system		√	√
small seminiferous tubules		√
small testis		√
testicular hypoplasia		√
abnormal sperm flagellum morphology		√
abnormal sperm head morphology		√
abnormal acrosome morphology		√
enlarged sperm head		√
abnormal spermatid morphology		√
decreased male germ cell number		√
decreased litter size			√
		hm1	ht2
skeleton		N
skeleton phenotype		N
		hm1	ht2
skin/coat/nails		√
diluted coat color		√
		hm1	ht2
vision/eye		√
reduced eye pigmentation		√

Phenotypic
data by
genotype

Phenotypic Data by Genotype

(show or hide all phenotypic details)

Genotype	Allelic Composition	Genetic Background
hm1	Oca2^p-25H/Oca2^p-25H	Not Specified
pigmentation diluted coat color (J:5219) coat color is lighter than in the original pink eye mutants reduced eye pigmentation (J:5219) eye pigment is reduced to approximately the same color as in the original pink eye mutants skin/coat/nails diluted coat color (J:5219) coat color is lighter than in the original pink eye mutants vision/eye reduced eye pigmentation (J:5219) eye pigment is reduced to approximately the same color as in the original pink eye mutants reproductive system small seminiferous tubules (J:5219) small testis (J:5219) testes are less than half the normal size testicular hypoplasia (J:5219) abnormal sperm flagellum morphology (J:5219) abnormal sperm head morphology (J:5219) abnormal acrosome morphology (J:5219) 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 (J:5219) abnormal spermatid morphology (J:5219) many spermatids have two or more nuclei and maturing sperm have abnormalities including giant sperm with multiple tails a small number of multinucleated giant rounded spermatids can be found in the germinal epithelium decreased male germ cell number (J:5219) fewer sperm tails are found in the lumina of the spermatic tubules indicative of a reduced number of spermatogonia and sperm endocrine/exocrine glands endocrine/exocrine gland phenotype (J:49046) histology of mammary gland hours after giving birth and the presence of milk in the pups' stomachs indicate that females lactate normally small seminiferous tubules (J:5219) small testis (J:5219) testes are less than half the normal size testicular hypoplasia (J:5219) behavior/neurological impaired coordination (J:5219) homozygotes are described as active, nervous a little uncoordinated nervous (J:5219) abnormal maternal nurturing (J:49046) time lapse photography 12 to 24 hours after birth shows that homozygous mothers fail to make a nest of keep the pups together, although there is no hostility toward the pups females rarely have more than one litter and that litter is usually small with pups rarely surviving more than 24 hours abnormal pup retrieval (J:49046) growth/size decreased body size (J:5219) homozygotes are smaller at birth and most weigh less as adults than their littermate controls decreased body weight (J:5219) skeleton skeleton phenotype (J:5219) no malocclusion or dental defects are found
Genotype	Allelic Composition	Genetic Background
ht2	Oca2^p-25H/Oca2⁺	Not Specified
reproductive system decreased litter size (J:5219) intercrossed heterozygotes produce an average litter size of 5.65, smaller than the 6.49 of wildtype control breeders

Notes

p^25H, p-25 Harwell, recessive. This allele was neutron-irradiation-induced. Homozygotes are very similar to p^6H homozygotes, except that sperm morphology differs; p^25H homozygous males have a lower proportion of normal sperm (J:5219, J:5501, J:15082, 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 reduced fertility. In addition, in p^25H homozygotes of both sexes, the pars nervosa of the pituitary contains degenerating nerve axons (J:5508), and the hypothalamus has reduced binding capacity for estradiol-17� (J:5219). 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).

References

Original:	J:64106 Johnson DR et al., "p<25H> - pink eyed 25 Harwell" Mouse News Lett 1972;47():52
All:	13 reference(s)

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