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Search results 1 to 92 out of 92 for Rp1l1

0.038s
Type Details Score
Gene
Type: gene
Organism: Homo sapiens
Gene
Type: gene
Organism: Rattus norvegicus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Publication
First Author: Yamashita T
Year: 2009
Journal: J Neurosci
Title: Essential and synergistic roles of RP1 and RP1L1 in rod photoreceptor axoneme and retinitis pigmentosa.
Volume: 29
Issue: 31
Pages: 9748-60
Publication
First Author: Davidson AE
Year: 2013
Journal: Hum Mutat
Title: RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy.
Volume: 34
Issue: 3
Pages: 506-14
Publication  
First Author: Bowne SJ
Year: 2003
Journal: Mol Vis
Title: Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1) gene.
Volume: 9
Pages: 129-37
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:3584690
Assay Type: RNA in situ
Annotation Date: 2005-08-30
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1647024
Pattern: Not Specified
Stage: TS24
Assay Id: MGI:3585361
Age: embryonic day 16.0
Detected: true
Specimen Num: 12
GXD Expression      
Probe: MGI:3584690
Assay Type: RNA in situ
Annotation Date: 2005-08-30
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1647028
Stage: TS28
Assay Id: MGI:3585361
Age: postnatal day 6
Detected: false
Specimen Num: 11
GXD Expression    
Probe: MGI:3584690
Assay Type: RNA in situ
Annotation Date: 2005-08-30
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1684624
Pattern: Not Specified
Stage: TS24
Assay Id: MGI:3585361
Age: embryonic day 16.0
Detected: true
Specimen Num: 12
GXD Expression
Probe: MGI:3723018
Assay Type: RNA in situ
Annotation Date: 2007-10-01
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1717122
Pattern: Regionally restricted
Stage: TS22
Assay Id: MGI:3723089
Age: embryonic day 14.5
Image: 5O
Note: Expression was detected in the outer neuroblastic layer that contains proliferating cells.
Detected: true
Specimen Num: 1
GXD Expression  
Probe: MGI:3584690
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:3585361
Age: postnatal adult
Image: Adult
Detected: true
Specimen Num: 10
GXD Expression  
Probe: MGI:3584690
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:3585361
Age: postnatal day 8-10
Image: P8/10
Detected: true
Specimen Num: 9
GXD Expression  
Probe: MGI:3584690
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:3585361
Age: postnatal day 6-7
Image: P6/7
Detected: true
Specimen Num: 8
GXD Expression
Probe: MGI:3584690
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:3585361
Age: postnatal day 4-5
Image: P4/5
Note: Expression was detected in the outer neuroblastic layer.
Detected: true
Specimen Num: 7
GXD Expression
Probe: MGI:3584690
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:3585361
Age: postnatal day 2-3
Image: P2/3
Note: Expression was detected in the outer neuroblastic layer.
Detected: true
Specimen Num: 6
GXD Expression    
Probe: MGI:3584690
Assay Type: RNA in situ
Annotation Date: 2005-08-30
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1716827
Stage: TS27
Assay Id: MGI:3585361
Age: postnatal day 0-1
Image: P0/1
Detected: false
Specimen Num: 5
GXD Expression    
Probe: MGI:3584690
Assay Type: RNA in situ
Annotation Date: 2005-08-30
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1716826
Stage: TS26
Assay Id: MGI:3585361
Age: embryonic day 18.0
Image: E18
Detected: false
Specimen Num: 4
GXD Expression    
Probe: MGI:3584690
Assay Type: RNA in situ
Annotation Date: 2005-08-30
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1716824
Stage: TS24
Assay Id: MGI:3585361
Age: embryonic day 16.0
Image: E16
Detected: false
Specimen Num: 3
GXD Expression    
Probe: MGI:3584690
Assay Type: RNA in situ
Annotation Date: 2005-08-30
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1716822
Stage: TS22
Assay Id: MGI:3585361
Age: embryonic day 14.0
Image: E14
Detected: false
Specimen Num: 2
GXD Expression    
Probe: MGI:3584690
Assay Type: RNA in situ
Annotation Date: 2005-08-30
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1716820
Stage: TS20
Assay Id: MGI:3585361
Age: embryonic day 12.0
Image: E12
Detected: false
Specimen Num: 1
GXD Expression  
Probe: MGI:3584690
Assay Type: RNA in situ
Annotation Date: 2005-08-30
Strength: Present
Sex: Male
Emaps: EMAPS:1915528
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:3585361
Age: postnatal adult
Image: Adult
Detected: true
Specimen Num: 10
GXD Expression  
Probe: MGI:3584690
Assay Type: RNA in situ
Annotation Date: 2005-08-30
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1915528
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:3585361
Age: postnatal day 8-10
Image: P8/10
Detected: true
Specimen Num: 9
GXD Expression  
Probe: MGI:3584690
Assay Type: RNA in situ
Annotation Date: 2005-08-30
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1915528
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:3585361
Age: postnatal day 6-7
Image: P6/7
Detected: true
Specimen Num: 8
Publication
First Author: Coquelle FM
Year: 2006
Journal: Cell Cycle
Title: Common and divergent roles for members of the mouse DCX superfamily.
Volume: 5
Issue: 9
Pages: 976-83
Publication  
First Author: Reiner O
Year: 2006
Journal: BMC Genomics
Title: The evolving doublecortin (DCX) superfamily.
Volume: 7
Pages: 188
Publication
First Author: Kowalchuk AM
Year: 2018
Journal: Dev Biol
Title: Requirements for Neurogenin2 during mouse postnatal retinal neurogenesis.
Volume: 442
Issue: 2
Pages: 220-235
Publication
First Author: Blackshaw S
Year: 2004
Journal: PLoS Biol
Title: Genomic analysis of mouse retinal development.
Volume: 2
Issue: 9
Pages: E247
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: MGC Data curation in Mouse Genome Informatics
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Function or Process or Component Unknown following Literature Review
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2003
Title: Data Curation Using Mouse Genome Assembly
Publication      
First Author: Wellcome Trust Sanger Institute
Year: 2009
Journal: MGI Direct Data Submission
Title: Alleles produced for the KOMP project by the Wellcome Trust Sanger Institute
Publication        
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
Publication
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
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: MGD Nomenclature Committee
Year: 1995
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: 2001
Title: Gene Ontology Annotation by the MGI Curatorial Staff
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: 2000
Title: Gene Ontology Annotation by electronic association of SwissProt Keywords with GO terms
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: 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, the Protein Information Resource and the Protein Ontology Consortium
Year: 2010
Journal: Database Release
Title: Protein Ontology Association Load
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 (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: Bairoch A
Year: 1999
Journal: Database Release
Title: SWISS-PROT Annotated protein sequence database
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 Scientific Curators
Year: 2005
Title: Obtaining and loading genome assembly coordinates from NCBI annotations
Publication
First Author: Akahori M
Year: 2010
Journal: Am J Hum Genet
Title: Dominant mutations in RP1L1 are responsible for occult macular dystrophy.
Volume: 87
Issue: 3
Pages: 424-9
Publication
First Author: Gao J
Year: 2002
Journal: Proc Natl Acad Sci U S A
Title: Progressive photoreceptor degeneration, outer segment dysplasia, and rhodopsin mislocalization in mice with targeted disruption of the retinitis pigmentosa-1 (Rp1) gene.
Volume: 99
Issue: 8
Pages: 5698-703
Protein
Organism: Mus musculus
Length: 1026  
Fragment?: true
Protein
Organism: Mus musculus
Length: 987  
Fragment?: true
Protein
Organism: Mus musculus
Length: 302  
Fragment?: true
Protein Domain
Type: Family
Description: This entry includes oxygen-regulated protein 1 (RP1), retinitis pigmentosa 1-like 1 (RP1L1) and neuronal migration protein doublecortin (DCX).Oxygen-regulated protein 1 (also known as retinitis pigmentosa 1, RP1) is a photoreceptor-specific, microtubule-associated ciliary protein containing the doublecortin (DCX) domain. Together with RP1L1, they play essential and synergistic roles in affecting photosensitivity and outer segment morphogenesis of rod photoreceptors [].Mutations in the RP1 gene account for 5-10% of cases of autosomal dominant retinitis pigmentosa, a disease characterised by late-onset night blindness, loss of peripheral vision, and diminished or absent electroretinogram (ERG) responses [].Mutations in the RP1L1 gene cause occult macular dystrophy (OCMD), an inherited macular dystrophy characterised by progressive loss of macular function but normal ophthalmoscopic appearance []. Neuronal migration protein doublecortin (DCX; also known as Lissencephalin-X) seems to be required for the initial steps of neuronal dispersion and cortex lamination during cerebral cortex development []. This protein may act by competing with the putative neuronal protein kinase DCAMKL1 in binding to a target protein, and thereby participate in a signalling pathway that is crucial for neuronal interaction before and during migration, possibly as part of a calcium ion-dependent signal transduction pathway. It may also be involved with LIS-1 in an overlapping, but distinct, signalling pathways that promotes neuronal migration. Defects in neuronal migration protein doublecortin are the cause of lissencephaly X-linked type 1 (LISX1), a classic lissencephaly characterised by mental retardation and seizures that are more severe in male patients [, ].
Publication
First Author: Gleeson JG
Year: 1998
Journal: Cell
Title: Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein.
Volume: 92
Issue: 1
Pages: 63-72
Publication
First Author: Boekhoorn K
Year: 2008
Journal: J Comp Neurol
Title: Doublecortin (DCX) and doublecortin-like (DCL) are differentially expressed in the early but not late stages of murine neocortical development.
Volume: 507
Issue: 4
Pages: 1639-52
Protein
Organism: Mus musculus
Length: 2095  
Fragment?: false
Protein
Organism: Mus musculus
Length: 1859  
Fragment?: false
Protein
Organism: Mus musculus
Length: 366  
Fragment?: false
Protein
Organism: Mus musculus
Length: 365  
Fragment?: false
Protein
Organism: Mus musculus
Length: 1859  
Fragment?: false
Protein
Organism: Mus musculus
Length: 379  
Fragment?: false
Protein
Organism: Mus musculus
Length: 331  
Fragment?: false
Protein
Organism: Mus musculus
Length: 2096  
Fragment?: true
Protein
Organism: Mus musculus
Length: 285  
Fragment?: false
Protein
Organism: Mus musculus
Length: 769  
Fragment?: true
Protein
Organism: Mus musculus
Length: 360  
Fragment?: false
Protein
Organism: Mus musculus
Length: 111  
Fragment?: true
Publication
First Author: des Portes V
Year: 1998
Journal: Cell
Title: A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome.
Volume: 92
Issue: 1
Pages: 51-61