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Search results 1 to 100 out of 109 for Bbs5

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Categories

Hits by Pathway

Hits by Category

Hits by Strain

Type Details Score
Gene
129880 | BBS5
Type: gene
Organism: human
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Gene
548992 | bbs5
Type: gene
Organism: frog, western clawed
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Gene
362142 | Bbs5
Type: gene
Organism: rat
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Gene
478783 | BBS5
Type: gene
Organism: dog, domestic
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Gene
459714 | BBS5
Type: gene
Organism: chimpanzee
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Gene
528191 | BBS5
Type: gene
Organism: cattle
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Gene
424165 | BBS5
Type: gene
Organism: chicken
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Gene
393269 | bbs5
Type: gene
Organism: zebrafish
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Gene
709701 | BBS5
Type: gene
Organism: macaque, rhesus
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Protein Coding Gene
MGI:1919819 | Bbs5
Type: protein_coding_gene
Organism: mouse, laboratory
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GXD Expression
GXD Expression
     
Probe: MGI:7606841
Assay Type: Immunohistochemistry
Annotation Date: 2024-02-27
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:3275717
Stage: TS17
Assay Id: MGI:7606879
Age: embryonic day 10.5
Specimen Label: 5B +/+ Bbs5
Detected: false
Specimen Num: 1
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GXD Expression
GXD Expression
 
Probe: MGI:7606841
Assay Type: Immunohistochemistry
Annotation Date: 2024-02-27
Strength: Strong
Sex: Not Specified
Emaps: EMAPS:3275717
Pattern: Regionally restricted
Stage: TS17
Assay Id: MGI:7606879
Age: embryonic day 10.5
Note: Expression highly enriched in cilia.
Specimen Label: 5B -/- Bbs5
Detected: true
Specimen Num: 2
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Publication
15137946 | J:135489
First Author: Li JB
Year: 2004
Journal: Cell
Title: Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene.
Volume: 117
Issue: 4
Pages: 541-52
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Publication
32776140 | J:293803
First Author: Bales KL
Year: 2020
Journal: Invest Ophthalmol Vis Sci
Title: BBSome Component BBS5 Is Required for Cone Photoreceptor Protein Trafficking and Outer Segment Maintenance.
Volume: 61
Issue: 10
Pages: 17
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Publication
33560420 | J:307098
First Author: Bentley-Ford MR
Year: 2021
Journal: Hum Mol Genet
Title: A mouse model of BBS identifies developmental and homeostatic effects of BBS5 mutation and identifies novel pituitary abnormalities.
Volume: 30
Issue: 3-4
Pages: 234-246
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Publication
22072986 | J:177990
First Author: Seo S
Year: 2011
Journal: PLoS Genet
Title: A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened.
Volume: 7
Issue: 11
Pages: e1002358
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Publication
30901771 | J:272954
First Author: Kretschmer V
Year: 2019
Journal: Invest Ophthalmol Vis Sci
Title: Progressive Characterization of Visual Phenotype in Bardet-Biedl Syndrome Mutant Mice.
Volume: 60
Issue: 4
Pages: 1132-1143
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Publication
24550735 | J:207969
First Author: Chamling X
Year: 2014
Journal: PLoS Genet
Title: The centriolar satellite protein AZI1 interacts with BBS4 and regulates ciliary trafficking of the BBSome.
Volume: 10
Issue: 2
Pages: e1004083
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Publication
25849460 | J:252762
First Author: Probert F
Year: 2015
Journal: J Proteome Res
Title: ¹H NMR metabolic profiling of plasma reveals additional phenotypes in knockout mouse models.
Volume: 14
Issue: 5
Pages: 2036-45
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DO Term
DOID:0110127 | Bardet-Biedl syndrome 5
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Protein Coding Gene
MGP_CAROLIEiJ_G0023622 | -
Type: protein_coding_gene
Organism: Mus caroli
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Protein Coding Gene
MGP_129S1SvImJ_G0025800 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_AJ_G0025777 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_AKRJ_G0025746 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_BALBcJ_G0025772 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_C3HHeJ_G0025532 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGI_C57BL6J_1919819 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_C57BL6NJ_G0026219 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_CASTEiJ_G0024996 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_CBAJ_G0025512 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_DBA2J_G0025643 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_FVBNJ_G0025606 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_LPJ_G0025732 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_NODShiLtJ_G0025635 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_NZOHlLtJ_G0026276 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_PWKPhJ_G0024737 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_WSBEiJ_G0025064 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_PahariEiJ_G0025074 | -
Type: protein_coding_gene
Organism: Mus pahari
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Protein Coding Gene
MGP_SPRETEiJ_G0024544 | -
Type: protein_coding_gene
Organism: Mus spretus
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GXD Expression
GXD Expression
   
Assay Type: In situ reporter (knock in)
Annotation Date: 2021-04-16
Strength: Present
Sex: Male
Emaps: EMAPS:1797228
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:6692020
Age: postnatal adult
Image: MRC Harwell_219759
Specimen Label: MRC Harwell_219759
Detected: true
Specimen Num: 2
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GXD Expression
GXD Expression
   
Assay Type: In situ reporter (knock in)
Annotation Date: 2021-04-16
Strength: Present
Sex: Female
Emaps: EMAPS:1757728
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:6692020
Age: postnatal adult
Image: MRC Harwell_219757
Specimen Label: MRC Harwell_219757
Detected: true
Specimen Num: 1
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GXD Expression
GXD Expression
   
Assay Type: In situ reporter (knock in)
Annotation Date: 2021-04-16
Strength: Present
Sex: Male
Emaps: EMAPS:1689428
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:6692020
Age: postnatal adult
Image: MRC Harwell_219761
Specimen Label: MRC Harwell_219761
Detected: true
Specimen Num: 3
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GXD Expression
GXD Expression
   
Assay Type: In situ reporter (knock in)
Annotation Date: 2021-04-16
Strength: Present
Sex: Male
Emaps: EMAPS:1689428
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:6692020
Age: postnatal adult
Image: MRC Harwell_219763
Specimen Label: MRC Harwell_219763
Detected: true
Specimen Num: 4
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Publication
31479441 | J:279506
First Author: Haq N
Year: 2019
Journal: PLoS Biol
Title: Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons.
Volume: 17
Issue: 9
Pages: e3000414
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Publication
31690665 | J:282359
First Author: Robichaux MA
Year: 2019
Journal: Proc Natl Acad Sci U S A
Title: Defining the layers of a sensory cilium with STORM and cryoelectron nanoscopy.
Volume: 116
Issue: 47
Pages: 23562-23572
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Publication
24833722 | J:214319
First Author: Karlstetter M
Year: 2014
Journal: Hum Mol Genet
Title: Disruption of the retinitis pigmentosa 28 gene Fam161a in mice affects photoreceptor ciliary structure and leads to progressive retinal degeneration.
Volume: 23
Issue: 19
Pages: 5197-210
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Publication
20603001 | J:165987
First Author: Jin H
Year: 2010
Journal: Cell
Title: The conserved Bardet-Biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia.
Volume: 141
Issue: 7
Pages: 1208-19
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Publication
19081074 | J:320058
First Author: Loktev AV
Year: 2008
Journal: Dev Cell
Title: A BBSome subunit links ciliogenesis, microtubule stability, and acetylation.
Volume: 15
Issue: 6
Pages: 854-65
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Publication
22500027 | J:193003
First Author: Zhang Q
Year: 2012
Journal: J Biol Chem
Title: Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome.
Volume: 287
Issue: 24
Pages: 20625-35
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Publication
27979967 | J:239231
First Author: Zhang B
Year: 2017
Journal: J Biol Chem
Title: DAZ-interacting Protein 1 (Dzip1) Phosphorylation by Polo-like Kinase 1 (Plk1) Regulates the Centriolar Satellite Localization of the BBSome Protein during the Cell Cycle.
Volume: 292
Issue: 4
Pages: 1351-1360
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Publication
25446516 | J:215449
First Author: Eguether T
Year: 2014
Journal: Dev Cell
Title: IFT27 links the BBSome to IFT for maintenance of the ciliary signaling compartment.
Volume: 31
Issue: 3
Pages: 279-90
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Publication
22922713 | J:193954
First Author: Wei Q
Year: 2012
Journal: Nat Cell Biol
Title: The BBSome controls IFT assembly and turnaround in cilia.
Volume: 14
Issue: 9
Pages: 950-7
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Publication
17379567 | J:135549
First Author: Forti E
Year: 2007
Journal: Int J Biochem Cell Biol
Title: Temporal expression pattern of Bardet-Biedl syndrome genes in adipogenesis.
Volume: 39
Issue: 5
Pages: 1055-62
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Publication
- | J:342612
       
First Author: UniProt curators
Year: 2014
Title: Electronic Gene Ontology annotations created by transferring manual GO annotations between related proteins based on shared sequence features
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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
32290105 | J:282558
 
First Author: Collin GB
Year: 2020
Journal: Cells
Title: Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss.
Volume: 9
Issue: 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
27626380 | J:236599
First Author: Dickinson ME
Year: 2016
Journal: Nature
Title: High-throughput discovery of novel developmental phenotypes.
Volume: 537
Issue: 7621
Pages: 508-514
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Publication
- | J:73065
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2001
Title: Gene Ontology Annotation by the MGI Curatorial Staff
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Publication
24194600 | J:228563
First Author: Koscielny G
Year: 2014
Journal: Nucleic Acids Res
Title: The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data.
Volume: 42
Issue: Database issue
Pages: D802-9
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Publication
- | J:204739
     
First Author: International Knockout Mouse Consortium
Year: 2014
Journal: Database Download
Title: MGI download of modified allele data from IKMC and creation of new knockout alleles
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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
- | J:157065
     
First Author: Helmholtz Zentrum Muenchen GmbH
Year: 2010
Journal: MGI Direct Data Submission
Title: Alleles produced for the EUCOMM and EUCOMMTools projects by the Helmholtz Zentrum Muenchen GmbH (Hmgu)
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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
- | J:85000
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2003
Title: MGI Sequence Curation Reference
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Publication
- | J:78475
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Chromosome assignment of mouse genes using the Mouse Genome Sequencing Consortium (MGSC) assembly and the ENSEMBL Database
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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
14610273 | J:86696
First Author: Zambrowicz BP
Year: 2003
Journal: Proc Natl Acad Sci U S A
Title: Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention.
Volume: 100
Issue: 24
Pages: 14109-14
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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:326541
       
First Author: Cyagen Biosciences Inc.
Year: 2022
Title: Cyagen Biosciences Website.
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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: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
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: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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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:262123
     
First Author: Allen Institute for Brain Science
Year: 2004
Journal: Allen Institute
Title: Allen Brain Atlas: mouse riboprobes
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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: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: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: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: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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Allele
Bbs5<em1Smoc> | MGI:7288441
Name: Bardet-Biedl syndrome 5; endonuclease-mediated mutation 1, Shanghai Model Organisms Center
Allele Type: Endonuclease-mediated
Attribute String: Null/knockout
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Allele
Bbs5<tm1a(EUCOMM)Wtsi> | MGI:4433255
Name: Bardet-Biedl syndrome 5; targeted mutation 1a, Wellcome Trust Sanger Institute
Allele Type: Targeted
Attribute String: Conditional ready, Null/knockout
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Strain
MGI:6474849 | C57BL/6JSmoc-Bbs5<em1Smoc>/Smoc
Attribute String: coisogenic, endonuclease-mediated mutation, mutant strain
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Genotype
Genotype
Symbol: Bbs5/Bbs5
Background: C57BL/6-Bbs5
Zygosity: hm
Has Mutant Allele: true
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Protein
F6Q242
Organism: Mus musculus/domesticus
Length: 92  
Fragment?: true
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Protein Domain
IPR006606 | BBL5
Type: Family
Description: Bardet-Biedl syndrome 5 protein (BBS5) is part of the BBSome complex that may function as a coat complex required for sorting of specific membrane proteins to the primary cilia []. Mutations in the BBS5 gene cause Bardet-Biedl syndrome 5, which is a syndrome characterised by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation [, ].
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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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