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Search results 1 to 97 out of 97 for Iqcb1

0.035s
Type Details Score
Gene
Type: gene
Organism: Homo sapiens
Gene
Type: gene
Organism: Rattus norvegicus
Gene
Type: gene
Organism: Danio rerio
Protein Domain
Type: Family
Description: IQ calmodulin-binding motif-containing protein 1 (IQCB1, also called NPHP5) is involved in ciliogenesis []. Mutations in IQCB1 gene cause Senior-Loken syndrome 5 (SLSN5), which is a renal-retinal disorder characterised by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease [].
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Publication
First Author: Otto EA
Year: 2005
Journal: Nat Genet
Title: Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.
Volume: 37
Issue: 3
Pages: 282-8
Publication
First Author: Sang L
Year: 2011
Journal: Cell
Title: Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways.
Volume: 145
Issue: 4
Pages: 513-28
Protein
Organism: Mus musculus
Length: 598  
Fragment?: false
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus caroli
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus pahari
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus spretus
GXD Expression    
Probe: MGI:3783663
Assay Type: Western blot
Annotation Date: 2008-05-02
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1737328
Stage: TS28
Assay Id: MGI:3783667
Age: postnatal
Image: S4
Detected: true
Specimen Num: 2
GXD Expression    
Probe: MGI:3783663
Assay Type: Western blot
Annotation Date: 2008-05-02
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1716828
Stage: TS28
Assay Id: MGI:3783666
Age: postnatal
Image: S4
Detected: true
Specimen Num: 1
GXD Expression    
Probe: MGI:3783663
Assay Type: Western blot
Annotation Date: 2008-05-02
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1716828
Stage: TS28
Assay Id: MGI:3783667
Age: postnatal
Image: S4
Detected: true
Specimen Num: 1
GXD Expression    
Probe: MGI:3783663
Assay Type: Western blot
Annotation Date: 2008-05-02
Strength: Absent
Sex: Male
Emaps: EMAPS:1797228
Stage: TS28
Assay Id: MGI:3783667
Age: postnatal
Image: S4
Detected: false
Specimen Num: 5
GXD Expression  
Probe: MGI:4416819
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1733123
Pattern: Spotted
Stage: TS23
Assay Id: MGI:4825610
Age: embryonic day 14.5
Image: euxassay_012492_06
Detected: true
Specimen Num: 6
GXD Expression  
Probe: MGI:4416819
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1733123
Pattern: Spotted
Stage: TS23
Assay Id: MGI:4825610
Age: embryonic day 14.5
Image: euxassay_012492_07
Detected: true
Specimen Num: 7
GXD Expression  
Probe: MGI:4416819
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1733123
Pattern: Spotted
Stage: TS23
Assay Id: MGI:4825610
Age: embryonic day 14.5
Image: euxassay_012492_08
Detected: true
Specimen Num: 8
GXD Expression  
Probe: MGI:4416819
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1733123
Pattern: Spotted
Stage: TS23
Assay Id: MGI:4825610
Age: embryonic day 14.5
Image: euxassay_012492_09
Detected: true
Specimen Num: 9
GXD Expression  
Probe: MGI:4416819
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1733123
Pattern: Spotted
Stage: TS23
Assay Id: MGI:4825610
Age: embryonic day 14.5
Image: euxassay_012492_10
Detected: true
Specimen Num: 10
GXD Expression  
Probe: MGI:3783661
Assay Type: RNA in situ
Annotation Date: 2008-05-02
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1603911
Pattern: Ubiquitous
Stage: TS11
Assay Id: MGI:3783670
Age: embryonic day 7.5
Image: S2a
Detected: true
Specimen Num: 1
GXD Expression  
Probe: MGI:3783661
Assay Type: RNA in situ
Annotation Date: 2008-05-02
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1603913
Pattern: Ubiquitous
Stage: TS13
Assay Id: MGI:3783670
Age: embryonic day 8.5
Image: S2b
Detected: true
Specimen Num: 2
GXD Expression  
Probe: MGI:3783661
Assay Type: RNA in situ
Annotation Date: 2008-05-02
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1603915
Pattern: Ubiquitous
Stage: TS15
Assay Id: MGI:3783670
Age: embryonic day 9.5
Image: S2c
Detected: true
Specimen Num: 3
GXD Expression  
Probe: MGI:3783661
Assay Type: RNA in situ
Annotation Date: 2008-05-02
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1603917
Pattern: Ubiquitous
Stage: TS17
Assay Id: MGI:3783670
Age: embryonic day 10.5
Image: S2d
Detected: true
Specimen Num: 4
GXD Expression  
Probe: MGI:4416819
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1691323
Pattern: Uniform
Stage: TS23
Assay Id: MGI:4825610
Age: embryonic day 14.5
Image: euxassay_012492_01
Detected: true
Specimen Num: 1
GXD Expression  
Probe: MGI:4416819
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1691323
Pattern: Uniform
Stage: TS23
Assay Id: MGI:4825610
Age: embryonic day 14.5
Image: euxassay_012492_02
Detected: true
Specimen Num: 2
GXD Expression  
Probe: MGI:4416819
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1691323
Pattern: Uniform
Stage: TS23
Assay Id: MGI:4825610
Age: embryonic day 14.5
Image: euxassay_012492_03
Detected: true
Specimen Num: 3
GXD Expression  
Probe: MGI:4416819
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1691323
Pattern: Uniform
Stage: TS23
Assay Id: MGI:4825610
Age: embryonic day 14.5
Image: euxassay_012492_04
Detected: true
Specimen Num: 4
GXD Expression  
Probe: MGI:4416819
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1691323
Pattern: Uniform
Stage: TS23
Assay Id: MGI:4825610
Age: embryonic day 14.5
Image: euxassay_012492_05
Detected: true
Specimen Num: 5
GXD Expression  
Probe: MGI:4416819
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1691323
Pattern: Uniform
Stage: TS23
Assay Id: MGI:4825610
Age: embryonic day 14.5
Image: euxassay_012492_06
Detected: true
Specimen Num: 6
GXD Expression  
Probe: MGI:4416819
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1691323
Pattern: Uniform
Stage: TS23
Assay Id: MGI:4825610
Age: embryonic day 14.5
Image: euxassay_012492_07
Detected: true
Specimen Num: 7
GXD Expression  
Probe: MGI:4416819
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1691323
Pattern: Uniform
Stage: TS23
Assay Id: MGI:4825610
Age: embryonic day 14.5
Image: euxassay_012492_08
Detected: true
Specimen Num: 8
GXD Expression  
Probe: MGI:4416819
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1691323
Pattern: Uniform
Stage: TS23
Assay Id: MGI:4825610
Age: embryonic day 14.5
Image: euxassay_012492_09
Detected: true
Specimen Num: 9
GXD Expression  
Probe: MGI:4416819
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1691323
Pattern: Uniform
Stage: TS23
Assay Id: MGI:4825610
Age: embryonic day 14.5
Image: euxassay_012492_11
Detected: true
Specimen Num: 11
GXD Expression  
Probe: MGI:4416819
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1691323
Pattern: Uniform
Stage: TS23
Assay Id: MGI:4825610
Age: embryonic day 14.5
Image: euxassay_012492_12
Detected: true
Specimen Num: 12
GXD Expression  
Probe: MGI:4416819
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1691323
Pattern: Uniform
Stage: TS23
Assay Id: MGI:4825610
Age: embryonic day 14.5
Image: euxassay_012492_13
Detected: true
Specimen Num: 13
GXD Expression  
Probe: MGI:4416819
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1691323
Pattern: Uniform
Stage: TS23
Assay Id: MGI:4825610
Age: embryonic day 14.5
Image: euxassay_012492_14
Detected: true
Specimen Num: 14
GXD Expression  
Probe: MGI:4416819
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1691323
Pattern: Uniform
Stage: TS23
Assay Id: MGI:4825610
Age: embryonic day 14.5
Image: euxassay_012492_15
Detected: true
Specimen Num: 15
GXD Expression  
Probe: MGI:4416819
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1691323
Pattern: Uniform
Stage: TS23
Assay Id: MGI:4825610
Age: embryonic day 14.5
Image: euxassay_012492_16
Detected: true
Specimen Num: 16
GXD Expression  
Probe: MGI:4416819
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1691323
Pattern: Uniform
Stage: TS23
Assay Id: MGI:4825610
Age: embryonic day 14.5
Image: euxassay_012492_17
Detected: true
Specimen Num: 17
GXD Expression  
Probe: MGI:4416819
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1691323
Pattern: Uniform
Stage: TS23
Assay Id: MGI:4825610
Age: embryonic day 14.5
Image: euxassay_012492_18
Detected: true
Specimen Num: 18
GXD Expression  
Probe: MGI:4416819
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1691323
Pattern: Uniform
Stage: TS23
Assay Id: MGI:4825610
Age: embryonic day 14.5
Image: euxassay_012492_19
Detected: true
Specimen Num: 19
GXD Expression
Probe: MGI:3783663
Assay Type: Immunohistochemistry
Annotation Date: 2009-05-13
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3568628
Pattern: Regionally restricted
Stage: TS28
Assay Id: MGI:3843941
Age: postnatal
Image: 4i
Note: Expression is present in connecting cilium, the outer segment, and the basal bodies. Higher magnification was shown in the inset.
Detected: true
Specimen Num: 1
GXD Expression
Probe: MGI:3783663
Assay Type: Immunohistochemistry
Annotation Date: 2009-05-13
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3568628
Pattern: Regionally restricted
Stage: TS28
Assay Id: MGI:3843944
Age: postnatal
Image: 4h
Note: Expression is present in the outer segment and connecting cilium.
Detected: true
Specimen Num: 1
GXD Expression
Probe: MGI:3783663
Assay Type: Immunohistochemistry
Annotation Date: 2009-05-13
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3568828
Pattern: Regionally restricted
Stage: TS28
Assay Id: MGI:3843941
Age: postnatal
Image: 4i
Note: Expression is present in connecting cilium, the outer segment, and the basal bodies. Higher magnification was shown in the inset.
Detected: true
Specimen Num: 1
GXD Expression
Probe: MGI:3783663
Assay Type: Immunohistochemistry
Annotation Date: 2009-05-13
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3568828
Pattern: Regionally restricted
Stage: TS28
Assay Id: MGI:3843944
Age: postnatal
Image: 4h
Note: Expression is present in the outer segment and connecting cilium.
Detected: true
Specimen Num: 1
GXD Expression  
Probe: MGI:4416819
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1778223
Pattern: Uniform
Stage: TS23
Assay Id: MGI:4825610
Age: embryonic day 14.5
Image: euxassay_012492_08
Detected: true
Specimen Num: 8
GXD Expression  
Probe: MGI:4416819
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1778223
Pattern: Uniform
Stage: TS23
Assay Id: MGI:4825610
Age: embryonic day 14.5
Image: euxassay_012492_12
Detected: true
Specimen Num: 12
GXD Expression  
Probe: MGI:4416819
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1778223
Pattern: Uniform
Stage: TS23
Assay Id: MGI:4825610
Age: embryonic day 14.5
Image: euxassay_012492_13
Detected: true
Specimen Num: 13
Publication  
First Author: Hanke-Gogokhia C
Year: 2018
Journal: Mol Vis
Title: Rescue of cone function in cone-only Nphp5 knockout mouse model with Leber congenital amaurosis phenotype.
Volume: 24
Pages: 834-846
Publication
First Author: Cideciyan AV
Year: 2011
Journal: Hum Mol Genet
Title: Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy.
Volume: 20
Issue: 7
Pages: 1411-23
Publication
First Author: Rao KN
Year: 2016
Journal: Hum Mol Genet
Title: Ciliopathy-associated protein CEP290 modifies the severity of retinal degeneration due to loss of RPGR.
Volume: 25
Issue: 10
Pages: 2005-2012
Publication
First Author: Ronquillo CC
Year: 2016
Journal: FASEB J
Title: Ciliopathy-associated IQCB1/NPHP5 protein is required for mouse photoreceptor outer segment formation.
Volume: 30
Issue: 10
Pages: 3400-3412
Publication  
First Author: Collin GB
Year: 2020
Journal: Cells
Title: Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss.
Volume: 9
Issue: 4
Publication      
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)
Publication
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
Publication      
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)
Publication      
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
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2003
Title: MGI Sequence Curation Reference
Publication
First Author: Carninci P
Year: 2005
Journal: Science
Title: The transcriptional landscape of the mammalian genome.
Volume: 309
Issue: 5740
Pages: 1559-63
Publication
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
Publication
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
Publication      
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
Publication      
First Author: MGI Genome Annotation Group and UniGene Staff
Year: 2015
Journal: Database Download
Title: MGI-UniGene Interconnection Effort
Publication      
First Author: The Jackson Laboratory Mouse Radiation Hybrid Database
Year: 2004
Journal: Database Release
Title: Mouse T31 Radiation Hybrid Data Load
Publication
First Author: Gaudet P
Year: 2011
Journal: Brief Bioinform
Title: Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium.
Volume: 12
Issue: 5
Pages: 449-62
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2010
Title: Human to Mouse ISO GO annotation transfer
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2000
Title: Gene Ontology Annotation by electronic association of SwissProt Keywords with GO terms
Publication
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
Publication      
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).
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Mouse Genome Informatics Computational Sequence to Gene Associations
Publication      
First Author: Mouse Genome Informatics
Year: 2010
Journal: Database Release
Title: Protein Ontology Association Load.
Publication      
First Author: Mouse Genome Database and National Center for Biotechnology Information
Year: 2000
Journal: Database Release
Title: Entrez Gene Load
Publication      
First Author: Mouse Genome Informatics Group
Year: 2003
Journal: Database Procedure
Title: Automatic Encodes (AutoE) Reference
Publication      
First Author: Allen Institute for Brain Science
Year: 2004
Journal: Allen Institute
Title: Allen Brain Atlas: mouse riboprobes
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and loading genome assembly coordinates from NCBI annotations
Publication      
First Author: Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI)
Year: 2010
Journal: Database Download
Title: Consensus CDS project
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations
Publication      
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
Publication      
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
Publication      
First Author: Bairoch A
Year: 1999
Journal: Database Release
Title: SWISS-PROT Annotated protein sequence database