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Search results 1 to 100 out of 112 for Bloc1s5

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Hits by Strain

Type Details Score
Gene
63915 | BLOC1S5
Type: gene
Organism: human
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Gene
100101667 | bloc1s5
Type: gene
Organism: frog, western clawed
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Gene
306868 | Bloc1s5
Type: gene
Organism: rat
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Gene
609473 | BLOC1S5
Type: gene
Organism: dog, domestic
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Gene
463205 | BLOC1S5
Type: gene
Organism: chimpanzee
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Gene
505520 | BLOC1S5
Type: gene
Organism: cattle
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Gene
420866 | BLOC1S5
Type: gene
Organism: chicken
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Gene
324781 | bloc1s5
Type: gene
Organism: zebrafish
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Gene
100423337 | BLOC1S5
Type: gene
Organism: macaque, rhesus
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Protein Domain
IPR017243 | Bloc1s5
Type: Family
Description: Lysosomes are membrane-bound organelles found in animals that are involved in degradation of endogenous and exogenous macromolecules []. Lysosome-related organelles occur in specificcell types and fulfil specialised functions e.g. melanosomes which synthesise and store pigments in higher eukaryotes. Lysosome biogenesis is linked to the to the secretory and endocytic pathways for protein and lipid trafficking.One of the protein complexes involved in this process is biogenesis of lysosome-related organelles complex 1 (BLOC-1). This complex consists of seven distinct subunits: dysbindin, pallidin, muted, snapin, cappuccino, and BLOS1-3 subunits []. Apart from BLOCS3 all of these subunits are predicted to form coiled-coil structures. BLOC-1 can be found in the cytosol and also associated with membranes. Protein interaction studies suggest that this complex interacts with a number of proteins including syntaxin, filametous actin, dystrobrevin and mysopryn, though the molecluar function of this complex is not yet known. Mutations in BLOC-1 subunits are associated with Hermansky-Pudlak syndrome - a disorder characterised by deficiencies in melanosomes, platelet-dense granules and other lysosome-related organelles. Cells that lack lysosome-related organelles express BLOC-1 but do not appear to need it for lysosome biosynthesis. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals [].This group represents the subunit 5 (also known as the muted subunit) of BLOC-1 []. In mice, defects in this protein are the cause of the Muted (mu) mutant, which is characterised by light eyes at birth, hypopigmentation of the coat, platelet storage pool deficiency and lysosomal hyposecretion [].
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Protein Coding Gene
MGI:2178598 | Bloc1s5
Type: protein_coding_gene
Organism: mouse, laboratory
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Publication
11912185 | J:75830
First Author: Zhang Q
Year: 2002
Journal: Hum Mol Genet
Title: The gene for the muted (mu) mouse, a model for Hermansky-Pudlak syndrome, defines a novel protein which regulates vesicle trafficking.
Volume: 11
Issue: 6
Pages: 697-706
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Publication
21998198 | J:187545
First Author: Larimore J
Year: 2011
Journal: Mol Biol Cell
Title: The schizophrenia susceptibility factor dysbindin and its associated complex sort cargoes from cell bodies to the synapse.
Volume: 22
Issue: 24
Pages: 4854-67
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Protein
Q8R015
Organism: Mus musculus/domesticus
Length: 185  
Fragment?: false
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Protein
Q3TB02
Organism: Mus musculus/domesticus
Length: 149  
Fragment?: false
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Publication
15261680 | -
First Author: Dell'Angelica EC
Year: 2004
Journal: Curr Opin Cell Biol
Title: The building BLOC(k)s of lysosomes and related organelles.
Volume: 16
Issue: 4
Pages: 458-64
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Publication
24713699 | J:309060
First Author: Larimore J
Year: 2014
Journal: J Biol Chem
Title: Mutations in the BLOC-1 subunits dysbindin and muted generate divergent and dosage-dependent phenotypes.
Volume: 289
Issue: 20
Pages: 14291-300
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Protein Coding Gene
MGP_CAROLIEiJ_G0018444 | -
Type: protein_coding_gene
Organism: Mus caroli
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Protein Coding Gene
MGP_129S1SvImJ_G0020474 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_AJ_G0020428 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_AKRJ_G0020406 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_BALBcJ_G0020424 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_C3HHeJ_G0020223 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGI_C57BL6J_2178598 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_C57BL6NJ_G0020857 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_CASTEiJ_G0019738 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_CBAJ_G0020184 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_DBA2J_G0020306 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_FVBNJ_G0020285 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_LPJ_G0020381 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_NODShiLtJ_G0020315 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_NZOHlLtJ_G0020900 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_PWKPhJ_G0019493 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_WSBEiJ_G0019800 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_PahariEiJ_G0019512 | -
Type: protein_coding_gene
Organism: Mus pahari
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Protein Coding Gene
MGP_SPRETEiJ_G0019324 | -
Type: protein_coding_gene
Organism: Mus spretus
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Publication
12191018 | J:88020
First Author: Moriyama K
Year: 2002
Journal: Traffic
Title: Pallidin is a component of a multi-protein complex involved in the biogenesis of lysosome-related organelles.
Volume: 3
Issue: 9
Pages: 666-77
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Publication
- | J:29164
 
First Author: Lyon MF
Year: 1965
Journal: Mouse News Lett
Title: Muted, mu
Volume: 32
Pages: 38
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Publication
- | J:30768
 
First Author: Hollander WF
Year: 1966
Journal: Mouse News Lett
Title: origin of mutation cod
Volume: 34
Pages: 28
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Publication
- | J:137494
     
First Author: Arnold CN
Year: 2008
Journal: MGI Direct Data Submission
Title: Record for "minnie", updated 14th of July, 2008
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Publication
26199316 | J:309061
First Author: Gokhale A
Year: 2015
Journal: Hum Mol Genet
Title: Neuronal copper homeostasis susceptibility by genetic defects in dysbindin, a schizophrenia susceptibility factor.
Volume: 24
Issue: 19
Pages: 5512-23
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Publication
- | J:29163
 
First Author: Hulse EV
Year: 1965
Journal: Mouse News Lett
Title: Foam-cell reticulosis, fm
Volume: 32
Pages: 38
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Publication
12019270 | J:88019
First Author: Falcón-Pérez JM
Year: 2002
Journal: J Biol Chem
Title: BLOC-1, a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense granules.
Volume: 277
Issue: 31
Pages: 28191-9
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Publication
12576321 | J:83960
First Author: Ciciotte SL
Year: 2003
Journal: Blood
Title: Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1).
Volume: 101
Issue: 11
Pages: 4402-7
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Publication
25157109 | J:323112
First Author: Wang H
Year: 2014
Journal: J Biol Chem
Title: Dysbindin-1C is required for the survival of hilar mossy cells and the maturation of adult newborn neurons in dentate gyrus.
Volume: 289
Issue: 42
Pages: 29060-72
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Publication
25619597 | J:323116
First Author: Yuan Y
Year: 2015
Journal: J Genet Genomics
Title: Impaired autophagy in hilar mossy cells of the dentate gyrus and its implication in schizophrenia.
Volume: 42
Issue: 1
Pages: 1-8
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Publication
- | J:23861
 
First Author: Sweet HO
Year: 1988
Journal: Mouse News Lett
Title: Mesenchymal dysplasia (mes)
Volume: 81
Pages: 70
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Publication
- | J:30705
 
First Author: Lyon MF
Year: 1966
Journal: Mouse News Lett
Title: mu
Volume: 34
Pages: 28
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Publication
22554196 | J:192646
First Author: Yang Q
Year: 2012
Journal: Traffic
Title: The BLOS1-interacting protein KXD1 is involved in the biogenesis of lysosome-related organelles.
Volume: 13
Issue: 8
Pages: 1160-9
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Publication
12923531 | J:85123
First Author: Li W
Year: 2003
Journal: Nat Genet
Title: Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1).
Volume: 35
Issue: 1
Pages: 84-9
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Publication
15109702 | J:89392
First Author: Jones SM
Year: 2004
Journal: Hear Res
Title: Gravity receptor function in mice with graded otoconial deficiencies.
Volume: 191
Issue: 1-2
Pages: 34-40
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Publication
20089890 | J:157701
First Author: Newell-Litwa K
Year: 2010
Journal: J Neurosci
Title: Hermansky-Pudlak protein complexes, AP-3 and BLOC-1, differentially regulate presynaptic composition in the striatum and hippocampus.
Volume: 30
Issue: 3
Pages: 820-31
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Publication
15009730 | J:88797
First Author: Nguyen T
Year: 2004
Journal: J Invest Dermatol
Title: Characterization of melanosomes in murine Hermansky-Pudlak syndrome: mechanisms of hypopigmentation.
Volume: 122
Issue: 2
Pages: 452-60
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Publication
25673877 | J:231502
First Author: Hao Z
Year: 2015
Journal: J Cell Sci
Title: Impaired maturation of large dense-core vesicles in muted-deficient adrenal chromaffin cells.
Volume: 128
Issue: 7
Pages: 1365-74
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Publication
10072431 | J:54407
First Author: Hong HK
Year: 1999
Journal: Hum Mol Genet
Title: Pleiotropic skeletal and ocular phenotypes of the mouse mutation congenital hydrocephalus (ch/Mf1) arise from a winged helix/forkhead transcriptionfactor gene.
Volume: 8
Issue: 4
Pages: 625-37
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Publication
15102850 | J:90887
First Author: Starcevic M
Year: 2004
Journal: J Biol Chem
Title: Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1).
Volume: 279
Issue: 27
Pages: 28393-401
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Publication
17182842 | J:124026
First Author: Setty SR
Year: 2007
Journal: Mol Biol Cell
Title: BLOC-1 is required for cargo-specific sorting from vacuolar early endosomes toward lysosome-related organelles.
Volume: 18
Issue: 3
Pages: 768-80
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Publication
15265785 | J:94897
First Author: Gwynn B
Year: 2004
Journal: Blood
Title: Reduced pigmentation (rp), a mouse model of Hermansky-Pudlak syndrome, encodes a novel component of the BLOC-1 complex.
Volume: 104
Issue: 10
Pages: 3181-9
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Publication
22423091 | J:183082
First Author: Gokhale A
Year: 2012
Journal: J Neurosci
Title: Quantitative proteomic and genetic analyses of the schizophrenia susceptibility factor dysbindin identify novel roles of the biogenesis of lysosome-related organelles complex 1.
Volume: 32
Issue: 11
Pages: 3697-711
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Publication
- | J:78379
     
First Author: The Jackson Laboratory Office of Genetic Resources
Year: 1987
Journal: MGI Direct Data Submission
Title: Registry of Remutations at The Jackson Laboratory, 1987-1988
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Publication
5367369 | J:5145
First Author: Lyon MF
Year: 1969
Journal: Genet Res
Title: Muted, a new mutant affecting coat colour and otoliths of the mouse, and its position in linkage group XIV.
Volume: 14
Issue: 2
Pages: 163-6
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Publication
15702992 | J:105404
First Author: Bossi G
Year: 2005
Journal: Traffic
Title: Normal lytic granule secretion by cytotoxic T lymphocytes deficient in BLOC-1, -2 and -3 and myosins Va, VIIa and XV.
Volume: 6
Issue: 3
Pages: 243-51
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Publication
27927957 | J:237336
First Author: Gokhale A
Year: 2016
Journal: J Neurosci
Title: The Proteome of BLOC-1 Genetic Defects Identifies the Arp2/3 Actin Polymerization Complex to Function Downstream of the Schizophrenia Susceptibility Factor Dysbindin at the Synapse.
Volume: 36
Issue: 49
Pages: 12393-12411
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Publication
8830098 | J:32739
First Author: Sweet HO
Year: 1996
Journal: J Hered
Title: Mesenchymal dysplasia: a recessive mutation on chromosome 13 of the mouse.
Volume: 87
Issue: 2
Pages: 87-95
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Publication
7719021 | J:22444
First Author: O'Brien EP
Year: 1995
Journal: Mamm Genome
Title: Molecular markers near two mouse chromosome 13 genes, muted and pearl, which cause platelet storage pool deficiency (SPD).
Volume: 6
Issue: 1
Pages: 19-24
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Publication
16760431 | J:114481
First Author: Salazar G
Year: 2006
Journal: Mol Biol Cell
Title: BLOC-1 complex deficiency alters the targeting of adaptor protein complex-3 cargoes.
Volume: 17
Issue: 9
Pages: 4014-26
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Publication
10193444 | J:53228
First Author: McGarry MP
Year: 1999
Journal: Proc Soc Exp Biol Med
Title: Survival and lung pathology of mouse models of Hermansky-Pudlak syndrome and Chediak-Higashi syndrome.
Volume: 220
Issue: 3
Pages: 162-8
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Publication
19546860 | J:188897
First Author: Ghiani CA
Year: 2010
Journal: Mol Psychiatry
Title: The dysbindin-containing complex (BLOC-1) in brain: developmental regulation, interaction with SNARE proteins and role in neurite outgrowth.
Volume: 15
Issue: 2
Pages: 115, 204-15
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Publication
6696991 | J:7327
First Author: Novak EK
Year: 1984
Journal: Blood
Title: Platelet storage pool deficiency in mouse pigment mutations associated with seven distinct genetic loci.
Volume: 63
Issue: 3
Pages: 536-44
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Publication
1912584 | J:29151
First Author: Swank RT
Year: 1991
Journal: Blood
Title: Platelet storage pool deficiency associated with inherited abnormalities of the inner ear in the mouse pigment mutants muted and mocha.
Volume: 78
Issue: 8
Pages: 2036-44
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Publication
19144828 | J:238458
First Author: Newell-Litwa K
Year: 2009
Journal: Mol Biol Cell
Title: Roles of BLOC-1 and adaptor protein-3 complexes in cargo sorting to synaptic vesicles.
Volume: 20
Issue: 5
Pages: 1441-53
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Publication
9714600 | J:48443
First Author: Odorizzi G
Year: 1998
Journal: Trends Cell Biol
Title: The AP-3 complex: a coat of many colours.
Volume: 8
Issue: 7
Pages: 282-8
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Publication
28344592 | J:308815
 
First Author: Larimore J
Year: 2017
Journal: Front Genet
Title: Dysbindin Deficiency Modifies the Expression of GABA Neuron and Ion Permeation Transcripts in the Developing Hippocampus.
Volume: 8
Pages: 28
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Publication
- | J:78801
       
First Author: Silvers WK
Year: 1979
Title: The Coat Colors of Mice; A Model for Mammalian Gene Action and Interaction
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Publication
- | J:238766
     
First Author: Shanghai Model Organisms Center
Year: 2017
Journal: MGI Direct Data Submission
Title: Information obtained from the Shanghai Model Organisms Center (SMOC), Shanghai, China
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Publication
16919269 | J:112701
First Author: Bailey PJ
Year: 2006
Journal: Exp Cell Res
Title: A global genomic transcriptional code associated with CNS-expressed genes.
Volume: 312
Issue: 16
Pages: 3108-19
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Publication
- | J:342607
       
First Author: Birgit Meldal and Sandra Orchard (1). (1) European Bioinformatics Institute (EBI), Hinxton, Cambridgeshire, United Kingdom
Year: 2023
Title: Manual transfer of experimentally-verified manual GO annotation data to homologous complexes by curator judgment of sequence, composition and function similarity
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Publication
- | J:80001
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: FANTOM2 Data Curation in Mouse Genome Informatics
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Publication
- | J:265051
     
First Author: MGI and IMPC
Year: 2018
Journal: Database Release
Title: MGI Load of Endonuclease-Mediated Alleles (CRISPR) from the International Mouse Phenotyping Consortium (IMPC)
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Publication
- | J:346132
       
First Author: The Gene Ontology Consortium
Year: 2016
Title: Automatic assignment of GO terms using logical inference, based on on inter-ontology links
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Publication
12520002 | J:91812
First Author: Stryke D
Year: 2003
Journal: Nucleic Acids Res
Title: BayGenomics: a resource of insertional mutations in mouse embryonic stem cells.
Volume: 31
Issue: 1
Pages: 278-81
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Publication
- | J:136110
     
First Author: Velocigene
Year: 2008
Journal: MGI Direct Data Submission
Title: Alleles produced for the KOMP project by Velocigene (Regeneron Pharmaceuticals)
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Publication
- | J:155845
     
First Author: Wellcome Trust Sanger Institute
Year: 2010
Journal: MGI Direct Data Submission
Title: Alleles produced for the EUCOMM and EUCOMMTools projects by the Wellcome Trust Sanger Institute
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Publication
- | J:211773
     
First Author: Mouse Genome Informatics and the International Mouse Phenotyping Consortium (IMPC)
Year: 2014
Journal: Database Release
Title: Obtaining and Loading Phenotype Annotations from the International Mouse Phenotyping Consortium (IMPC) Database
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Publication
18799693 | J:142754
First Author: Hansen GM
Year: 2008
Journal: Genome Res
Title: Large-scale gene trapping in C57BL/6N mouse embryonic stem cells.
Volume: 18
Issue: 10
Pages: 1670-9
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Publication
16141072 | J:99680
First Author: Carninci P
Year: 2005
Journal: Science
Title: The transcriptional landscape of the mammalian genome.
Volume: 309
Issue: 5740
Pages: 1559-63
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Publication
11217851 | J:65060
First Author: Kawai J
Year: 2001
Journal: Nature
Title: Functional annotation of a full-length mouse cDNA collection.
Volume: 409
Issue: 6821
Pages: 685-90
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Publication
38355793 | J:345621
First Author: Adams DJ
Year: 2024
Journal: Nature
Title: Genetic determinants of micronucleus formation in vivo.
Volume: 627
Issue: 8002
Pages: 130-136
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Publication
- | J:23000
       
First Author: MGD Nomenclature Committee
Year: 1995
Title: Nomenclature Committee Use
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Publication
- | J:293217
       
First Author: GemPharmatech
Year: 2020
Title: GemPharmatech Website.
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Publication
21677750 | J:173534
First Author: Skarnes WC
Year: 2011
Journal: Nature
Title: A conditional knockout resource for the genome-wide study of mouse gene function.
Volume: 474
Issue: 7351
Pages: 337-42
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Publication
- | J:141210
     
First Author: Mouse Genome Informatics (MGI) and National Center for Biotechnology Information (NCBI)
Year: 2008
Journal: Database Download
Title: Mouse Gene Trap Data Load from dbGSS
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Publication
- | J:342587
       
First Author: AgBase, BHF-UCL, Parkinson's UK-UCL, dictyBase, HGNC, Roslin Institute, FlyBase and UniProtKB curators
Year: 2011
Title: Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity
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Publication
12466851 | J:80000
First Author: Okazaki Y
Year: 2002
Journal: Nature
Title: Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs.
Volume: 420
Issue: 6915
Pages: 563-73
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Publication
- | J:164563
       
First Author: The Gene Ontology Consortium
Year: 2010
Title: Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs
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Publication
21267068 | J:153498
First Author: Diez-Roux G
Year: 2011
Journal: PLoS Biol
Title: A high-resolution anatomical atlas of the transcriptome in the mouse embryo.
Volume: 9
Issue: 1
Pages: e1000582
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Publication
- | J:75000
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Mouse Genome Informatics Computational Sequence to Gene Associations
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Publication
- | J:157972
     
First Author: Mouse Genome Informatics Scientific Curators
Year: 2010
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome U74 Array Platform (A, B, C v2).
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Publication
- | J:57747
     
First Author: MGI Genome Annotation Group and UniGene Staff
Year: 2015
Journal: Database Download
Title: MGI-UniGene Interconnection Effort
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Publication
- | J:161428
       
First Author: Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas
Year: 2010
Title: Annotation inferences using phylogenetic trees
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MouseMine is a collaboration between MGI at The Jackson Laboratory and the InterMine project at the Cambridge Systems Biology Centre. MouseMine is funded through a grant from the NIH/NHGRI.The Jackson Laboratory makes no representation about the suitability or accuracy of this software or data for any purpose, and makes no warranties, either express or implied, including merchantability and fitness for a particular purpose or that the use of this software or data will not infringe any third party patents, copyrights, trademarks, or other rights. the software and data are provided "as is". This software and data are provided to enhance knowledge and encourage progress in the scientific community and are to be used only for research and educational purposes. Any reproduction or use for commercial purpose is prohibited without the prior express written permission of the Jackson Laboratory.

Copyright © 2017 by The Jackson Laboratory. All Rights Reserved

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