Symbol
Name
ID
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Synonyms
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ru-2, ru2, ruby eye 2
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Genetic Map
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Sequence Map
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Mammalian
homology
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Sequences
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All sequences(41)
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Alleles
and
phenotypes
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All alleles(62) :
Gene trapped(53)
Spontaneous(6)
Chemically induced(3)
| Homozygotes have hypopigmented eyes and hair, impaired secretion of lysosomal enzymes by renal proximal tubules and reduced clotting due to a platelet dense granule defect. Homozygotes for one allele are less susceptible to diet-induced atherosclerosis. |
Associated Human Diseases (2)
Alleles Annotated to Human Diseases (4)
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Polymorphisms
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SNPs within 2kb(314 from dbSNP Build 128)
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Gene Ontology
(GO)
classifications
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Expression
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cDNA source data(11)
External Resources:
GEO
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Molecular
reagents
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All nucleic(11)
cDNA(11)
Microarray probesets(1)
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Other database
links
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Protein
domains
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| InterPro ID |
Description |
| IPR011046 |
WD40 repeat-like-containing domain |
| IPR015943 |
WD40/YVTN repeat-like-containing domain |
| IPR017217 |
BLOC-2 complex, Hps5 subunit |
Graphical View
of Protein Domain Structure
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References
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(Earliest)
J:15003
Bateman N,
"Maroon - allele of silver?"
Mouse News Lett 1957;16():7
(Latest)
J:99680
The FANTOM Consortium and RIKEN Genome Exploration Research Group and Genome Science Group (Genome Network Project Core Group),
"The Transcriptional Landscape of the Mammalian Genome"
Science 2005;309(5740):1559-1563
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All references(31)
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Other
accession IDs
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MGD-MRK-11042, MGD-MRK-12533, MGD-MRK-14250, MGD-MRK-14251, MGI:2142017, MGI:2142086, MGI:2142352, MGI:98205
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