Symbol
Name
ID
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Synonyms
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2310068B06Rik, A930008M05Rik, Gacy, Gacy, galactocerebrosidase
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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(46)
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Alleles
and
phenotypes
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All alleles(8) :
Targeted, other(3)
Spontaneous(4)
Chemically induced(1)
| Homozygotes for spontaneous and targeted mutations exhibit tremors, progressive weakness, wasting, both central and peripheral demyelination, massive accumulation of galactosylceramide, abnormal macrophages, and death by 4 months of age. |
Associated Human Diseases (1)
Alleles Annotated to Human Diseases (2)
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Polymorphisms
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SNPs within 2kb(304 from dbSNP Build 128)
SNPs within 2kb including multiple locations(306)
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Gene Ontology
(GO)
classifications
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Expression
|
Literature Summary: (3 records)
Data Summary:
Assays (1)
Results (7)
Tissues (5)
Theiler Stages: 20,22,24,26,28
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Assay Type |
Assays |
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Results |
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RT-PCR |
1 |
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7 |
cDNA source data(52)
External Resources:
Allen Brain Atlas
GENSAT
GEO
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Molecular
reagents
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All nucleic(53)
cDNA(52)
Primer pair(1)
Microarray probesets(4)
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Other database
links
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Protein
domains
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| InterPro ID |
Description |
| IPR001286 |
Glycoside hydrolase, family 59 |
| IPR013781 |
Glycoside hydrolase, subgroup, catalytic core |
| IPR017853 |
Glycoside hydrolase, catalytic core |
Graphical View
of Protein Domain Structure
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References
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(Earliest)
J:6390
Duchen LW et al.,
"Hereditary leucodystrophy in the mouse: the new mutant twitcher."
Brain 1980 Sep;103(3):695-710
(Latest)
J:153255
Plati T et al.,
"Development and maturation of invariant NKT cells in the presence of lysosomal engulfment."
Eur J Immunol 2009 Oct;39(10):2748-54
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All references(77)
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Other
accession IDs
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MGD-MRK-15304, MGD-MRK-9951, MGD-MRK-9962, MGI:1916901, MGI:1925845, MGI:2145017, MGI:2145024
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