Symbol
Name
ID
|
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Synonyms
|
Bolvr, mBLVR1
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Genetic Map
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Sequence Map
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Mammalian
homology
|
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Sequences
|
All sequences(47)
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Alleles
and
phenotypes
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All alleles(10) :
Targeted, knock-out(1)
Gene trapped(7)
Spontaneous(2)
| Mutations show coat and eye color dilution, platelet defects, lysosomal abnormalities, inner ear degeneration and neurological defects. They model Hermansky-Pudlak storage pool deficiency syndrome. |
Associated Human Diseases (2)
Alleles Annotated to Human Diseases (1)
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Polymorphisms
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PCR(1)
SNPs within 2kb(72 from dbSNP Build 128)
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Gene Ontology
(GO)
classifications
|
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Expression
|
Literature Summary: (1 records)
cDNA source data(228)
External Resources:
Allen Brain Atlas
GENSAT
GEO
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Molecular
reagents
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All nucleic(229)
cDNA(228)
Primer pair(1)
Microarray probesets(2)
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Other database
links
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Protein
domains
|
| InterPro ID |
Description |
| IPR002553 |
Clathrin/coatomer adaptor, adaptin-like, N-terminal |
| IPR010474 |
Bovine leukaemia virus receptor |
| IPR011989 |
Armadillo-like helical |
| IPR016024 |
Armadillo-type fold |
| IPR017105 |
Adaptor protein complex AP-3, delta subunit |
Graphical View
of Protein Domain Structure
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References
|
(Earliest)
J:5511
Lane PW et al.,
"Mocha, a new coat color and behavior mutation on chromosome 10 of the mouse."
J Hered 1974 Nov-Dec;65(6):362-4
(Latest)
J:149430
Concepcion D et al.,
"Multipotent genetic suppression of retrotransposon-induced mutations by Nxf1 through fine-tuning of alternative splicing."
PLoS Genet 2009 May;5(5):e1000484
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All references(34)
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Other
accession IDs
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MGD-MRK-12227, MGD-MRK-36310, MGI:2143455, MGI:96979
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