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| Nomenclature |
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Symbol:
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Oca2p-6H
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Name:
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oculocutaneous albinism II;
pink-eyed dilution 6 Harwell
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MGI ID: |
MGI:1856125 |
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Synonyms: |
Herc2p-6H, p6H |
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Gene:
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Oca2
Location:
Chr7:63495130-63791887 bp, + strand
Genetic Position: Chr7,
28.0 cM
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Mutation
origin |
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Strain of Origin:
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(C3H/HeH x 101/H)F1
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Mutation
description |
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Allele
Type: |
Radiation induced |
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Mutation: |
Deletion |
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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. (J:11138, J:100221) |
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Inheritance: |
Recessive |
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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| Expression |
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Phenotype
summary
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Phenotype Summary by Mammalian Phenotype terms
(show or
hide all annotated terms)
Genotypes are listed in the next section.
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Key:
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| 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 |
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Phenotypic
data by
genotype
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Phenotypic Data by Genotype
(show or
hide all phenotypic details)
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| Genotype | Allelic Composition | Genetic Background |
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  hm1
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Oca2p-6H/Oca2p-6H |
involves: 101/H * C3H/HeH |
pigmentation behavior/neurological skin/coat/nails vision/eye reproductive system endocrine/exocrine glands growth/size skeleton |
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Notes |
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).
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| References |
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Original: |
J:15082
Phillips RJS,
"Description of the phenotypes of p-alleles (other than p) held at Harwell"
Mouse News Lett 1977;56():38
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All: |
16 reference(s)
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