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Search results 101 to 175 out of 175 for Hps6

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Type Details Score
Publication
21045126 | J:166600
First Author: Blasius AL
Year: 2010
Journal: Proc Natl Acad Sci U S A
Title: Slc15a4, AP-3, and Hermansky-Pudlak syndrome proteins are required for Toll-like receptor signaling in plasmacytoid dendritic cells.
Volume: 107
Issue: 46
Pages: 19973-8
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Publication
11256068 | J:88013
First Author: Nadeau JH
Year: 2001
Journal: Nat Rev Genet
Title: Modifier genes in mice and humans.
Volume: 2
Issue: 3
Pages: 165-74
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Publication
2379821 | J:29467
First Author: Moore KJ
Year: 1990
Journal: Genetics
Title: Interaction of the murine dilute suppressor gene (dsu) with fourteen coat color mutations.
Volume: 125
Issue: 2
Pages: 421-30
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Publication
6971254 | J:6485
First Author: Clark EA
Year: 1981
Journal: Immunogenetics
Title: Mutations in mice that influence natural killer (NK) cell activity.
Volume: 12
Issue: 5-6
Pages: 601-13
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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
- | J:30778
First Author: Sweet HO
Year: 1995
Journal: Mouse Genome
Title: Remutations at The Jackson Laboratory (Update to Mouse Genome 1993; 91:862-5 - J16313)
Volume: 93
Issue: 4
Pages: 1030-4
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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: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
- | J:342605
       
First Author: GOA curators
Year: 2016
Title: Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
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Publication
- | J:342604
       
First Author: UniProt-GOA
Year: 2012
Title: Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt
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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
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
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:60000
       
First Author: UniProt-GOA
Year: 2012
Title: Gene Ontology annotation based on UniProtKB/Swiss-Prot keyword mapping
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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
- | 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: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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Publication
- | J:63103
     
First Author: Mouse Genome Database and National Center for Biotechnology Information
Year: 2000
Journal: Database Release
Title: Entrez Gene Load
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Publication
- | J:85324
     
First Author: Mouse Genome Informatics Group
Year: 2003
Journal: Database Procedure
Title: Automatic Encodes (AutoE) Reference
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Publication
- | J:53168
     
First Author: Bairoch A
Year: 1999
Journal: Database Release
Title: SWISS-PROT Annotated protein sequence database
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Publication
- | J:91388
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations
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Publication
- | J:155721
     
First Author: Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI)
Year: 2010
Journal: Database Download
Title: Consensus CDS project
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Publication
- | J:155221
     
First Author: Mouse Genome Informatics
Year: 2010
Journal: Database Release
Title: Protein Ontology Association Load.
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Publication
- | J:90438
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and loading genome assembly coordinates from NCBI annotations
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Publication
- | J:144086
     
First Author: Mouse Genome Informatics Scientific Curators
Year: 2009
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Gene 1.0 ST Array Platform
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Publication
- | J:144087
     
First Author: Mouse Genome Informatics Scientific Curators
Year: 2009
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome 430 2.0 Array Platform
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Publication
- | J:262123
     
First Author: Allen Institute for Brain Science
Year: 2004
Journal: Allen Institute
Title: Allen Brain Atlas: mouse riboprobes
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Protein Domain
IPR017218 | BLOC-2_complex_Hps6_subunit
Type: Family
Description: Lysosome-related organelles comprise a group of specialised intracellular compartments that include melanosomes and platelet dense granules in mammals and eye pigment granules in insects. Hermansky-Pudlak syndrome (HPS) is a disorder of lysosome-related organelle biogenesis. Genes associated with HPS encode subunits of three complexes that are known as biogenesis of lysosome-related organelles complex (BLOC)-1, -2 and -3 []. There are eight known HPS proteins of the BLOCs [, ]]. Organelles affected in HPS include the melanosome, resulting in hypopigmentation, and the platelet delta (dense) granule, resulting in prolonged bleeding times. HPS in humans or mice is caused by mutations in any of 15 genes, five of which encode subunits BLOC-1. BLOC-1 and BLOC-2 act sequentially in the same pathway. Melanosome maturation requires at least two cargo transport pathways directly from early endosomes to melanosomes. One pathway mediated by AP-3, and one pathway mediated by BLOC-1 and BLOC-2 []. The adaptor protein AP-3 complex is a component of the cellular machinery that controls protein sorting from endosomes to lysosomes and melanosomes. BLOC-1 interacts physically and functionally with AP-3 to facilitate the trafficking of a known AP-3 cargo, CD63, and of tyrosinase-related protein 1 (Tyrp1). BLOC-1 also interacts with BLOC-2 to facilitate Tyrp1 trafficking by a mechanism apparently independent of AP-3 function. Both BLOC-1 and -2 predominantly localise to early endosome-associated tubules [].Complex-2 (BLOC-2) contains the HPS3, HPS5 and HPS6 proteins as subunits. Fibroblasts deficient in the BLOC-2 subunits HPS3 or HPS6 have normal basal secretion function of the lysosomal enzyme beta-hexosaminidase [].This entry includes BLOC-2 complex, Hps6 subunit, which may regulate the synthesis and function of lysosomes and of highly specialized organelles []. It acts as cargo adapter for the dynein-dynactin motor complex to mediate the transport of lysosomes from the cell periphery to the perinuclear region. Hsp6 facilitates retrograde lysosomal trafficking by linking the motor complex to lysosomes, and perinuclear positioning of lysosomes is crucial for the delivery of endocytic cargos to lysosomes, for lysosome maturation and function [].
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Allele
Hps6<ru-6J> | MGI:1856410
 
Name: HPS6, biogenesis of lysosomal organelles complex 2 subunit 3; ruby-eye 6 Jackson
Allele Type: Spontaneous
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Genotype
Genotype
Symbol: Hps6/Hps6
Background: involves: C3H/HeJ
Zygosity: hm
Has Mutant Allele: true
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Publication
16837549 | J:114587
First Author: Di Pietro SM
Year: 2006
Journal: Mol Biol Cell
Title: BLOC-1 interacts with BLOC-2 and the AP-3 complex to facilitate protein trafficking on endosomes.
Volume: 17
Issue: 9
Pages: 4027-38
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Publication
17156100 | -
First Author: Falcón-Pérez JM
Year: 2007
Journal: Traffic
Title: The Drosophila pigmentation gene pink (p) encodes a homologue of human Hermansky-Pudlak syndrome 5 (HPS5).
Volume: 8
Issue: 2
Pages: 154-68
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Publication
17365864 | -
First Author: Huizing M
Year: 2007
Journal: Platelets
Title: Platelet alpha granules in BLOC-2 and BLOC-3 subtypes of Hermansky-Pudlak syndrome.
Volume: 18
Issue: 2
Pages: 150-7
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Publication
15030569 | -
First Author: Di Pietro SM
Year: 2004
Journal: Traffic
Title: Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6.
Volume: 5
Issue: 4
Pages: 276-83
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Protein
Q8BLY7
Organism: Mus musculus/domesticus
Length: 805  
Fragment?: false
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Publication
17041891 | -
First Author: Schreyer-Shafir N
Year: 2006
Journal: Hum Mutat
Title: A new genetic isolate with a unique phenotype of syndromic oculocutaneous albinism: clinical, molecular, and cellular characteristics.
Volume: 27
Issue: 11
Pages: 1158
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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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Allele
Hps6<ru> | MGI:1856544
 
Name: HPS6, biogenesis of lysosomal organelles complex 2 subunit 3; ruby-eye
Allele Type: Spontaneous
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Genotype
Genotype
Symbol: a/a Hps6/Hps6
Background: B6.Cg-Hps6
Zygosity: cx
Has Mutant Allele: true
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DO Term
DOID:0060544 | Hermansky-Pudlak syndrome 6
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Strain
MGI:2165422 | B6 x C3H/HeJ-Hps6<ru-6J>/J
Attribute String: mutant stock, spontaneous mutation
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GO Term
GO:0031084 | BLOC-2 complex
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Allele
T(7;19)145H | MGI:5316040
 
Name: reciprocal translocation, Chr 7 and 19, Harwell 145
Allele Type: Radiation induced
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Allele
T(7;19)145H | MGI:5316041
 
Name: reciprocal translocation, Chr 7 and 19, Harwell 145
Allele Type: Radiation induced
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Protein Domain
IPR046823 | HPS6_N
Type: Domain
Description: This entry represents the N-terminal β-propeller domain of the HPS6 protein.This entry includes BLOC-2 complex, Hps6 subunit, which may regulate the synthesis and function of lysosomes and of highly specialized organelles []. It acts as cargo adapter for the dynein-dynactin motor complex to mediate the transport of lysosomes from the cell periphery to the perinuclear region. Hsp6 facilitates retrograde lysosomal trafficking by linking the motor complex to lysosomes, and perinuclear positioning of lysosomes is crucial for the delivery of endocytic cargos to lysosomes, for lysosome maturation and function [].
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Protein Domain
IPR046822 | HPS6_C
Type: Domain
Description: This entry represents the C-terminal α-solenoid domain of the HPS6 protein.This entry includes BLOC-2 complex, Hps6 subunit, which may regulate the synthesis and function of lysosomes and of highly specialized organelles []. It acts as cargo adapter for the dynein-dynactin motor complex to mediate the transport of lysosomes from the cell periphery to the perinuclear region. Hsp6 facilitates retrograde lysosomal trafficking by linking the motor complex to lysosomes, and perinuclear positioning of lysosomes is crucial for the delivery of endocytic cargos to lysosomes, for lysosome maturation and function [].
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Genotype
Genotype
Symbol: T(7;19)145H/?
Background: involves: 101/H * C3H/HeH
Zygosity: ot
Has Mutant Allele: true
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Genotype
Genotype
Symbol: T(7;19)145H/?
Background: involves: 101/H * C3H/HeH
Zygosity: ot
Has Mutant Allele: true
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Strain
MGI:5316045 | STOCK T(7;19)145H/H
Attribute String: mutant stock, translocation, chromosome aberration, radiation induced mutation
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Publication
7175827 | J:182572
First Author: Fellmann N
Year: 1982
Journal: J Reprod Fertil
Title: Pituitary-gonadal axis in sterile male mice heterozygous for autosomal reciprocal translocation T145H.
Volume: 66
Issue: 2
Pages: 723-8
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Protein
Q3TU08
Organism: Mus musculus/domesticus
Length: 750  
Fragment?: true
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Protein
F6Q7C7
Organism: Mus musculus/domesticus
Length: 534  
Fragment?: true
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Protein
F6YT95
Organism: Mus musculus/domesticus
Length: 253  
Fragment?: true
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Publication
9714595 | -
First Author: Lloyd V
Year: 1998
Journal: Trends Cell Biol
Title: Not just pretty eyes: Drosophila eye-colour mutations and lysosomal delivery.
Volume: 8
Issue: 7
Pages: 257-9
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Publication
17632576 | -
First Author: Syrzycka M
Year: 2007
Journal: Genome
Title: The pink gene encodes the Drosophila orthologue of the human Hermansky-Pudlak syndrome 5 (HPS5) gene.
Volume: 50
Issue: 6
Pages: 548-56
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Protein Domain
IPR035431 | HPS5
Type: Family
Description: Lysosome-related organelles comprise a group of specialised intracellular compartments that include melanosomes and platelet dense granules in mammals and eye pigment granules in insects. Hermansky-Pudlak syndrome (HPS) is a disorder of lysosome-related organelle biogenesis. Genes associated with HPS encode subunits of three complexes that are known as biogenesis of lysosome-related organelles complex (BLOC)-1, -2 and -3 []. There are eight known HPS proteins of the BLOCs [, ]]. Organelles affected in HPS include the melanosome, resulting in hypopigmentation, and the platelet delta (dense) granule, resulting in prolonged bleeding times. HPS in humans or mice is caused by mutations in any of 15 genes, five of which encode subunits BLOC-1. BLOC-1 and BLOC-2 act sequentially in the same pathway. Melanosome maturation requires at least two cargo transport pathways directly from early endosomes to melanosomes. One pathway mediated by AP-3, and one pathway mediated by BLOC-1 and BLOC-2 []. The adaptor protein AP-3 complex is a component of the cellular machinery that controls protein sorting from endosomes to lysosomes and melanosomes. BLOC-1 interacts physically and functionally with AP-3 to facilitate the trafficking of a known AP-3 cargo, CD63, and of tyrosinase-related protein 1 (Tyrp1). BLOC-1 also interacts with BLOC-2 to facilitate Tyrp1 trafficking by a mechanism apparently independent of AP-3 function. Both BLOC-1 and -2 predominantly localise to early endosome-associated tubules [].Complex-2 (BLOC-2) contains the HPS3, HPS5 and HPS6 proteins as subunits. Fibroblasts deficient in the BLOC-2 subunits HPS3 or HPS6 have normal basal secretion function of the lysosomal enzyme beta-hexosaminidase [].This entry also includes HPS5 homologues from insects. Fruit fly HPS5 (also known as p) has a role in the biogenesis of eye pigment granules [,].
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Publication
5958877 | J:34742
First Author: Lyon MF
Year: 1966
Journal: Cytogenetics
Title: Autosomal translocations causing male sterility and viable aneuploidy in the mouse.
Volume: 5
Issue: 5
Pages: 335-54
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Protein Coding Gene
MGI:2153839 | Hps3
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGI:2180307 | Hps5
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein
P59438
Organism: Mus musculus/domesticus
Length: 1126  
Fragment?: false
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Protein
Q6ZQ01
Organism: Mus musculus/domesticus
Length: 1060  
Fragment?: true
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Protein
Q640Q9
Organism: Mus musculus/domesticus
Length: 1093  
Fragment?: false
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Protein
A0A1B0GSK6
Organism: Mus musculus/domesticus
Length: 119  
Fragment?: true
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Protein
A0A173M1J6
Organism: Mus musculus/domesticus
Length: 113  
Fragment?: false
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Protein
D3Z3L4
Organism: Mus musculus/domesticus
Length: 119  
Fragment?: true
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Protein
A0A1B0GRB1
Organism: Mus musculus/domesticus
Length: 204  
Fragment?: false
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Protein
D3YYJ4
Organism: Mus musculus/domesticus
Length: 202  
Fragment?: true
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Protein
E9Q3X4
Organism: Mus musculus/domesticus
Length: 1093  
Fragment?: false
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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.

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