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Search results 101 to 200 out of 215 for Bbs2

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Type Details Score
GXD Expression
GXD Expression
   
Probe: MGI:3584670
Assay Type: RNA in situ
Annotation Date: 2005-08-30
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1754428
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:3585788
Age: postnatal day 6
Specimen Label: CNS
Detected: true
Specimen Num: 7
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•
•
•
•
GXD Expression
GXD Expression
 
Probe: MGI:4885980
Assay Type: RNA in situ
Annotation Date: 2011-04-11
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1754428
Pattern: Widespread
Stage: TS28
Assay Id: MGI:4945944
Age: postnatal day 7
Image: g02326 P7
Specimen Label: g02326 P7
Detected: true
Specimen Num: 3
•
•
•
•
•
GXD Expression
GXD Expression
Probe: MGI:4885980
Assay Type: RNA in situ
Annotation Date: 2011-04-11
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1754428
Pattern: Regionally restricted
Stage: TS28
Assay Id: MGI:4945944
Age: postnatal day 42
Image: g02326 Adult
Note: Expression was region specific and scattered.
Specimen Label: g02326 Adult
Detected: true
Specimen Num: 4
•
•
•
•
•
GXD Expression
GXD Expression
 
Probe: MGI:4885980
Assay Type: RNA in situ
Annotation Date: 2011-04-11
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3267228
Pattern: Widespread
Stage: TS28
Assay Id: MGI:4945944
Age: postnatal day 7
Image: g02326 P7
Specimen Label: g02326 P7
Detected: true
Specimen Num: 3
•
•
•
•
•
GXD Expression
GXD Expression
 
Probe: MGI:4885980
Assay Type: RNA in situ
Annotation Date: 2011-04-11
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3267228
Pattern: Widespread
Stage: TS28
Assay Id: MGI:4945944
Age: postnatal day 42
Image: g02326 Adult
Specimen Label: g02326 Adult
Detected: true
Specimen Num: 4
•
•
•
•
•
GXD Expression
GXD Expression
 
Probe: MGI:4885980
Assay Type: RNA in situ
Annotation Date: 2011-04-11
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1691019
Pattern: Widespread
Stage: TS19
Assay Id: MGI:4945944
Age: embryonic day 11.5
Image: g02326 E11.5
Specimen Label: g02326 E11.5
Detected: true
Specimen Num: 1
•
•
•
•
•
GXD Expression
GXD Expression
   
Probe: MGI:3584670
Assay Type: RNA in situ
Annotation Date: 2005-08-30
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3284528
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:3585788
Age: postnatal day 6
Specimen Label: CNS
Detected: true
Specimen Num: 7
•
•
•
•
•
GXD Expression
GXD Expression
 
Probe: MGI:4885980
Assay Type: RNA in situ
Annotation Date: 2011-04-11
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3284523
Pattern: Widespread
Stage: TS23
Assay Id: MGI:4945944
Age: embryonic day 15.5
Image: g02326 E15.5
Specimen Label: g02326 E15.5
Detected: true
Specimen Num: 2
•
•
•
•
•
GXD Expression
GXD Expression
Probe: MGI:4885980
Assay Type: RNA in situ
Annotation Date: 2011-04-11
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3284528
Pattern: Regionally restricted
Stage: TS28
Assay Id: MGI:4945944
Age: postnatal day 7
Image: g02326 P7
Note: Expression was region specific and scattered.
Specimen Label: g02326 P7
Detected: true
Specimen Num: 3
•
•
•
•
•
GXD Expression
GXD Expression
Probe: MGI:4885980
Assay Type: RNA in situ
Annotation Date: 2011-04-11
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3284528
Pattern: Regionally restricted
Stage: TS28
Assay Id: MGI:4945944
Age: postnatal day 42
Image: g02326 Adult
Note: Expression was region specific and scattered.
Specimen Label: g02326 Adult
Detected: true
Specimen Num: 4
•
•
•
•
•
GXD Expression
GXD Expression
 
Probe: MGI:4885980
Assay Type: RNA in situ
Annotation Date: 2011-04-11
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1689619
Pattern: Widespread
Stage: TS19
Assay Id: MGI:4945944
Age: embryonic day 11.5
Image: g02326 E11.5
Specimen Label: g02326 E11.5
Detected: true
Specimen Num: 1
•
•
•
•
•
GXD Expression
GXD Expression
 
Probe: MGI:3584670
Assay Type: RNA in situ
Annotation Date: 2005-08-30
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1915727
Pattern: Not Specified
Stage: TS27
Assay Id: MGI:3585788
Age: postnatal day 0-1
Note: Expression was detected in the outer neuroblastic layer.
Specimen Label: P0/1
Detected: true
Specimen Num: 1
•
•
•
•
•
GXD Expression
GXD Expression
Probe: MGI:3584670
Assay Type: RNA in situ
Annotation Date: 2005-08-30
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1915727
Pattern: Not Specified
Stage: TS27
Assay Id: MGI:3585788
Age: postnatal day 2-3
Image: P2/3
Note: Expression was detected in the outer neuroblastic layer.
Specimen Label: P2/3
Detected: true
Specimen Num: 2
•
•
•
•
•
GXD Expression
GXD Expression
 
Probe: MGI:3584670
Assay Type: RNA in situ
Annotation Date: 2005-08-30
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1915728
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:3585788
Age: postnatal day 4-5
Note: Expression was detected in the outer neuroblastic layer.
Specimen Label: P4/5
Detected: true
Specimen Num: 3
•
•
•
•
•
GXD Expression
GXD Expression
 
Probe: MGI:3584670
Assay Type: RNA in situ
Annotation Date: 2005-08-30
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1915728
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:3585788
Age: postnatal day 6-7
Image: P6/7
Specimen Label: P6/7
Detected: true
Specimen Num: 4
•
•
•
•
•
GXD Expression
GXD Expression
 
Probe: MGI:3584670
Assay Type: RNA in situ
Annotation Date: 2005-08-30
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1915728
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:3585788
Age: postnatal day 8-10
Image: P8/10
Specimen Label: P8/10
Detected: true
Specimen Num: 5
•
•
•
•
•
GXD Expression
GXD Expression
 
Probe: MGI:3584670
Assay Type: RNA in situ
Annotation Date: 2005-08-30
Strength: Present
Sex: Male
Emaps: EMAPS:1915728
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:3585788
Age: postnatal adult
Image: Adult
Specimen Label: Adult
Detected: true
Specimen Num: 6
•
•
•
•
•
GXD Expression
GXD Expression
 
Probe: MGI:4885980
Assay Type: RNA in situ
Annotation Date: 2011-04-11
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3267328
Pattern: Widespread
Stage: TS28
Assay Id: MGI:4945944
Age: postnatal day 7
Image: g02326 P7
Specimen Label: g02326 P7
Detected: true
Specimen Num: 3
•
•
•
•
•
GXD Expression
GXD Expression
 
Probe: MGI:4885980
Assay Type: RNA in situ
Annotation Date: 2011-04-11
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3267328
Pattern: Widespread
Stage: TS28
Assay Id: MGI:4945944
Age: postnatal day 42
Image: g02326 Adult
Specimen Label: g02326 Adult
Detected: true
Specimen Num: 4
•
•
•
•
•
GXD Expression
GXD Expression
 
Probe: MGI:4885980
Assay Type: RNA in situ
Annotation Date: 2011-04-11
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3274128
Pattern: Regionally restricted
Stage: TS28
Assay Id: MGI:4945944
Age: postnatal day 7
Image: g02326 P7
Specimen Label: g02326 P7
Detected: true
Specimen Num: 3
•
•
•
•
•
GXD Expression
GXD Expression
 
Probe: MGI:4885980
Assay Type: RNA in situ
Annotation Date: 2011-04-11
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3274128
Pattern: Regionally restricted
Stage: TS28
Assay Id: MGI:4945944
Age: postnatal day 42
Image: g02326 Adult
Specimen Label: g02326 Adult
Detected: true
Specimen Num: 4
•
•
•
•
•
GXD Expression
GXD Expression
 
Probe: MGI:4885980
Assay Type: RNA in situ
Annotation Date: 2011-04-11
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1609219
Pattern: Widespread
Stage: TS19
Assay Id: MGI:4945944
Age: embryonic day 11.5
Image: g02326 E11.5
Specimen Label: g02326 E11.5
Detected: true
Specimen Num: 1
•
•
•
•
•
GXD Expression
GXD Expression
 
Probe: MGI:4885980
Assay Type: RNA in situ
Annotation Date: 2011-04-11
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3266028
Pattern: Regionally restricted
Stage: TS28
Assay Id: MGI:4945944
Age: postnatal day 7
Image: g02326 P7
Specimen Label: g02326 P7
Detected: true
Specimen Num: 3
•
•
•
•
•
GXD Expression
GXD Expression
Probe: MGI:3584670
Assay Type: RNA in situ
Annotation Date: 2005-08-30
Strength: Present
Sex: Male
Emaps: EMAPS:3574228
Pattern: Regionally restricted
Stage: TS28
Assay Id: MGI:3585788
Age: postnatal adult
Image: Adult
Note: Expression was detected in bipolar cells.
Specimen Label: Adult
Detected: true
Specimen Num: 6
•
•
•
•
•
GXD Expression
GXD Expression
   
Probe: MGI:1733214
Assay Type: RNA in situ
Annotation Date: 2024-04-24
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1754722
Pattern: Not Specified
Stage: TS22
Assay Id: MGI:7623579
Age: embryonic day 14.5
Specimen Label: Supplementary table 2
Detected: true
Specimen Num: 1
•
•
•
•
•
GXD Expression
GXD Expression
 
Probe: MGI:4885980
Assay Type: RNA in situ
Annotation Date: 2011-04-11
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1754028
Pattern: Widespread
Stage: TS28
Assay Id: MGI:4945944
Age: postnatal day 7
Image: g02326 P7
Specimen Label: g02326 P7
Detected: true
Specimen Num: 3
•
•
•
•
•
GXD Expression
GXD Expression
 
Probe: MGI:4885980
Assay Type: RNA in situ
Annotation Date: 2011-04-11
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1754028
Pattern: Widespread
Stage: TS28
Assay Id: MGI:4945944
Age: postnatal day 42
Image: g02326 Adult
Specimen Label: g02326 Adult
Detected: true
Specimen Num: 4
•
•
•
•
•
GXD Expression
GXD Expression
   
Probe: MGI:4885980
Assay Type: RNA in situ
Annotation Date: 2011-04-11
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:3280923
Stage: TS23
Assay Id: MGI:4945944
Age: embryonic day 15.5
Image: g02326 E15.5
Specimen Label: g02326 E15.5
Detected: false
Specimen Num: 2
•
•
•
•
•
GXD Expression
GXD Expression
Probe: MGI:4885980
Assay Type: RNA in situ
Annotation Date: 2011-04-11
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3280928
Pattern: Regionally restricted
Stage: TS28
Assay Id: MGI:4945944
Age: postnatal day 7
Image: g02326 P7
Note: Expression was region specific and scattered.
Specimen Label: g02326 P7
Detected: true
Specimen Num: 3
•
•
•
•
•
GXD Expression
GXD Expression
Probe: MGI:4885980
Assay Type: RNA in situ
Annotation Date: 2011-04-11
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3280928
Pattern: Regionally restricted
Stage: TS28
Assay Id: MGI:4945944
Age: postnatal day 42
Image: g02326 Adult
Note: Expression was region specific and scattered.
Specimen Label: g02326 Adult
Detected: true
Specimen Num: 4
•
•
•
•
•
GXD Expression
GXD Expression
 
Probe: MGI:4885980
Assay Type: RNA in situ
Annotation Date: 2011-04-11
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3266523
Pattern: Widespread
Stage: TS23
Assay Id: MGI:4945944
Age: embryonic day 15.5
Image: g02326 E15.5
Specimen Label: g02326 E15.5
Detected: true
Specimen Num: 2
•
•
•
•
•
GXD Expression
GXD Expression
Probe: MGI:4885980
Assay Type: RNA in situ
Annotation Date: 2011-04-11
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1757723
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4945944
Age: embryonic day 15.5
Image: g02326 E15.5
Note: Expression was region specific and scattered.
Specimen Label: g02326 E15.5
Detected: true
Specimen Num: 2
•
•
•
•
•
GXD Expression
GXD Expression
 
Probe: MGI:4885980
Assay Type: RNA in situ
Annotation Date: 2011-04-11
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1757728
Pattern: Widespread
Stage: TS28
Assay Id: MGI:4945944
Age: postnatal day 7
Image: g02326 P7
Specimen Label: g02326 P7
Detected: true
Specimen Num: 3
•
•
•
•
•
GXD Expression
GXD Expression
Probe: MGI:4885980
Assay Type: RNA in situ
Annotation Date: 2011-04-11
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1757728
Pattern: Regionally restricted
Stage: TS28
Assay Id: MGI:4945944
Age: postnatal day 42
Image: g02326 Adult
Note: Expression was region specific and scattered.
Specimen Label: g02326 Adult
Detected: true
Specimen Num: 4
•
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Publication
21152952 | J:226748
First Author: Domire JS
Year: 2011
Journal: Cell Mol Life Sci
Title: Dopamine receptor 1 localizes to neuronal cilia in a dynamic process that requires the Bardet-Biedl syndrome proteins.
Volume: 68
Issue: 17
Pages: 2951-60
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DO Term
DOID:0110124 | Bardet-Biedl syndrome 2
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Publication
19195025 | J:194514
First Author: Kaushik AP
Year: 2009
Journal: J Orthop Res
Title: Cartilage abnormalities associated with defects of chondrocytic primary cilia in Bardet-Biedl syndrome mutant mice.
Volume: 27
Issue: 8
Pages: 1093-9
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Publication
21106857 | J:168735
First Author: Guo DF
Year: 2011
Journal: Am J Physiol Renal Physiol
Title: Inactivation of Bardet-Biedl syndrome genes causes kidney defects.
Volume: 300
Issue: 2
Pages: F574-80
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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
26103456 | J:224863
First Author: Starks RD
Year: 2015
Journal: PLoS Genet
Title: Regulation of Insulin Receptor Trafficking by Bardet Biedl Syndrome Proteins.
Volume: 11
Issue: 6
Pages: e1005311
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Publication
12524598 | J:82085
First Author: Mykytyn K
Year: 2003
Journal: Am J Hum Genet
Title: Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).
Volume: 72
Issue: 2
Pages: 429-37
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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
22228099 | J:181886
First Author: Zhang Q
Year: 2012
Journal: Hum Mol Genet
Title: BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes.
Volume: 21
Issue: 9
Pages: 1945-53
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Publication
32433491 | J:292018
First Author: Hsu Y
Year: 2020
Journal: Sci Rep
Title: The absence of BBSome function decreases synaptogenesis and causes ectopic synapse formation in the retina.
Volume: 10
Issue: 1
Pages: 8321
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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
20080638 | J:156536
First Author: Seo S
Year: 2010
Journal: Proc Natl Acad Sci U S A
Title: BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly.
Volume: 107
Issue: 4
Pages: 1488-93
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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
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
25605782 | J:217667
First Author: May-Simera HL
Year: 2015
Journal: Development
Title: Ciliary proteins Bbs8 and Ift20 promote planar cell polarity in the cochlea.
Volume: 142
Issue: 3
Pages: 555-66
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Publication
22139371 | J:180524
First Author: Zhang Q
Year: 2011
Journal: Proc Natl Acad Sci U S A
Title: Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes.
Volume: 108
Issue: 51
Pages: 20678-83
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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
17062627 | J:137511
First Author: Lin Q
Year: 2006
Journal: Nucleic Acids Res
Title: Mutagenesis of diploid mammalian genes by gene entrapment.
Volume: 34
Issue: 20
Pages: e139
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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:165964
     
First Author: Mammalian Functional Genomics Centre
Year: 2010
Journal: MGI Direct Data Submission
Title: Alleles produced for the NorCOMM project by the Mammalian Functional Genomics Centre (Mfgc), University of Manitoba
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Publication
21731673 | J:174767
First Author: Tang F
Year: 2011
Journal: PLoS One
Title: Deterministic and stochastic allele specific gene expression in single mouse blastomeres.
Volume: 6
Issue: 6
Pages: e21208
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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
15226823 | J:93300
First Author: Blackshaw S
Year: 2004
Journal: PLoS Biol
Title: Genomic analysis of mouse retinal development.
Volume: 2
Issue: 9
Pages: E247
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Publication
- | J:237616
     
First Author: MGI and IMPC
Year: 2017
Journal: MGI Direct Data Submission
Title: MGI Curation of Endonuclease-Mediated Alleles (CRISPR) from the International Mouse Phenotyping Consortium (IMPC)
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Publication
- | J:68100
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2001
Title: RIKEN Data Curation in Mouse Genome Informatics
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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
34321999 | J:313619
 
First Author: Bedogni F
Year: 2021
Journal: Front Mol Neurosci
Title: Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development.
Volume: 14
Pages: 686034
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Publication
- | J:57656
     
First Author: Lennon G
Year: 1999
Journal: Database Download
Title: WashU-HHMI Mouse EST Project
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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: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
16602821 | J:162220
First Author: Magdaleno S
Year: 2006
Journal: PLoS Biol
Title: BGEM: an in situ hybridization database of gene expression in the embryonic and adult mouse nervous system.
Volume: 4
Issue: 4
Pages: e86
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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
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: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
- | J:68900
     
First Author: The Jackson Laboratory Mouse Radiation Hybrid Database
Year: 2004
Journal: Database Release
Title: Mouse T31 Radiation Hybrid Data Load
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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
Bbs2<em1Smoc> | MGI:7641403
Name: Bardet-Biedl syndrome 2; endonuclease-mediated mutation 1, Shanghai Model Organisms Center
Allele Type: Endonuclease-mediated
Attribute String: Null/knockout
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Strain
MGI:6474848 | C57BL/6JSmoc-Bbs2<em1Smoc>/Smoc
Attribute String: coisogenic, endonuclease-mediated mutation, mutant strain
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Allele
Bbs2<tm1Vcs> | MGI:3521669
Name: Bardet-Biedl syndrome 2; targeted mutation 1, Val C Sheffield
Allele Type: Targeted
Attribute String: Null/knockout
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Allele
Bbs2<tm1.1Huss> | MGI:6471956
Name: Bardet-Biedl syndrome 2; targeted mutation 1.1, Herve Husson
Allele Type: Targeted
Attribute String: Null/knockout
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DO Term
DOID:0110401 | retinitis pigmentosa 74
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Genotype
Genotype
Symbol: Bbs2/Bbs2
Background: either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6J)
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Bbs2/Bbs2
Background: involves: 129S6/SvEv * C57BL/6
Zygosity: hm
Has Mutant Allele: true
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Publication
12016587 | -
First Author: Katsanis N
Year: 2002
Journal: Am J Hum Genet
Title: BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance.
Volume: 71
Issue: 1
Pages: 22-9
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Protein Domain
IPR028786 | BBS4
Type: Family
Description: Bardet-Biedl syndrome is characterised by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation []. Bardet-Biedl syndrome proteins (BBS1, BBS2, BBS4, BBS5, BBS7, BBS8/TTC8, BBS9 and BBIP10) form the BBSome complex, which may function as a coat complex required for sorting of specific membrane proteins to the primary cilia []. The ciliary trafficking function of BBSome is regulated by LZTFL1 (Leucine-zipper transcription factor-like 1) [].Primary cilia are ubiquitous cellular appendages that provide important sensory and signalling functions and their dysfunction underlies numerous human genetic disorders. The proteins disrupted in the human ciliary disorder Bardet-Biedl syndrome (BBS) are required for the localisation of G protein-coupled receptors to primary cilia on central neurons. The alteration of signalling caused by mislocalisation of ciliary signalling proteins underlies the BBS phenotype []. Of the 12 known BBS genes, BBS1 is the most commonly mutated [].This entry represents BBS4. It may participate in triallelic inheritance with BBS2 and BBS1 [].
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Publication
20395968 | -
First Author: Goetz SC
Year: 2010
Journal: Nat Rev Genet
Title: The primary cilium: a signalling centre during vertebrate development.
Volume: 11
Issue: 5
Pages: 331-44
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Publication
11707781 | J:72840
First Author: Hamacher M
Year: 2001
Journal: Mamm Genome
Title: Plasmolipin: genomic structure, chromosomal localization, protein expression pattern, and putative association with Bardet-Biedl syndrome.
Volume: 12
Issue: 12
Pages: 933-7
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