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| Nomenclature |
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Symbol:
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Hps6ru
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Name:
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Hermansky-Pudlak syndrome 6;
ruby-eye
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MGI ID: |
MGI:1856544 |
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Synonyms: |
ru |
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Gene:
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Hps6
Location:
Chr19:46077998-46080643 bp, + strand
Genetic Position: Chr19,
44.0 cM
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Mutation
origin |
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Strain of Origin:
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STOCK Sisi piebald
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Mutation
description |
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Allele
Type: |
Spontaneous |
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Mutation: |
Intragenic deletion |
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Sequence analysis identified an in frame deletion of codons 187, 188, and 189 encoding histidine, cysteine, and proline, respectively. (J:81444) |
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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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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
Disease Model |
Hps6ru/Hps6ru |
B6.Cg-Hps6ru |
hematopoietic system homeostasis/metabolism cardiovascular system |
| Genotype | Allelic Composition | Genetic Background |
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hm2
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Hps6ru/Hps6ru |
Not Specified |
pigmentation vision/eye skin/coat/nails |
| Genotype | Allelic Composition | Genetic Background |
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cx3
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Hps6ru/Hps6ru
Lystbg-slt/Lystbg-slt |
involves: YZ57/Ch |
pigmentation skin/coat/nails vision/eye |
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Disease
models
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Notes |
The ruby-eye mutation was found by Dunn (J:13122) in a silver piebald stock of Danforth. Homozygotes at birth have unpigmented eyes that later darken to a ruby color. The black pigment of the coat is diluted to a dark slate color, and the yellow pigment is diluted slightly.
Ruby-eye in homozygous condition greatly reduces the number of melanocytes in the retina, ear skin, Harderian gland, nictitans (J:12970), and retinal pigment epithelium (J:6064). It has the same effect on shape and color of pigment granules as brown (Tyrpb), i.e., it makes the granules spheroidal rather than ovoid as in wild-type, and it changes the color of the granules to dark brown (J:12970). The internal structure of the pigment granules is normal (J:5346, J:5001).
This mutation has several effects in common with other mutations that reduce pigmentation (see Hps1). The ruby-eye mutation causes a reduced number of projections of retinal ganglion cells to the ipsilateral lateral geniculate nucleus (J:6064). The kidney concentration of lysosomal enzymes is elevated, probably because of a low rate of excretion into the urine. Lysosomal morphology is normal (J:6422). Ruby-eye mice have a platelet storage pool deficiency characterized by prolonged bleeding time, normal platelet number, and low platelet dense granule number and dense granule serotonin content (J:7327). A platelet function component related to atherosclerosis is blocked in homozygous ruby-eye mice though not in homozygous maroon mice (Hps5ru2-mr, J:29748). The Wdt2 gene located on Chr 1, a cell autonomous suppressor of pigment dilution gene effects (J:20796), suppresses the eye color effects of mutations at Hps6 and Hps5. Coat color dilution, which Wdt2 suppresses in Myo5a, Mlph, and Rab27a dilution genotypes, is not affected in mutant Hps6 or Hps5 homozygotes, or in a number of other dilution genotypes (J:29467).
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| References |
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Original: |
J:13122
Dunn LC,
"A New Eye Color Mutant in the Mouse with Asymmetrical Expression."
Proc Natl Acad Sci U S A 1945 Nov;31(11):343-6
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All: |
24 reference(s)
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