Symbol
Name
ID
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Synonyms
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A430089E03Rik, C85354, D18Ertd139e, D18Ertd723e, lcsd, nmf164
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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(35)
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Alleles
and
phenotypes
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All alleles(11) :
Gene trapped(8)
Spontaneous(2)
Chemically induced(1)
| Homozygotes for spontaneous and chemically induced mutations may exhibit lysosomal storage of non-esterified cholesterol, neurodegeneration, ataxia, presence of foam cells, sterility, and shortened lifespan. |
Associated Human Diseases (1)
Alleles Annotated to Human Diseases (1)
Phenotype Images (3)
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Polymorphisms
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SNPs within 2kb(347 from dbSNP Build 128)
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Gene Ontology
(GO)
classifications
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Expression
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Literature Summary: (2 records)
Data Summary:
Assays (2)
Results (17)
Tissues (12)
Theiler Stages: 10,18,23,25,28
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Assay Type |
Assays |
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Results |
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Northern blot |
2 |
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17 |
cDNA source data(16)
External Resources:
Allen Brain Atlas
GENSAT
GEO
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Molecular
reagents
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All nucleic(25)
Genomic(6)
cDNA(16)
Primer pair(3)
Microarray probesets(1)
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Other database
links
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Protein
domains
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Graphical View
of Protein Domain Structure
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References
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(Earliest)
J:83825
Boothe AD et al.,
"Tissue cholesterol storage disorder in BALB/c mice: histologic findings"
Fed Proc 1977;36():1158 (Abstr.)
(Latest)
J:146298
Liu B et al.,
"Reversal of defective lysosomal transport in NPC disease ameliorates liver dysfunction and neurodegeneration in the npc1-/- mouse."
Proc Natl Acad Sci U S A 2009 Feb 17;106(7):2377-82
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All references(135)
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Other
accession IDs
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MGD-MRK-11760, MGD-MRK-14533, MGI:1098628, MGI:1289269, MGI:2147413, MGI:2444276, MGI:2686738, MGI:96758, MGI:98383
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