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Search results 101 to 177 out of 177 for Cep290

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Type Details Score
Publication
- | J:101977
     
First Author: The Jackson Laboratory
Year: 2005
Journal: Unpublished
Title: Information obtained from The Jackson Laboratory, Bar Harbor, ME
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Publication
- | J:81858
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2003
Title: Data Curation Using Mouse Genome Assembly
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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
12520002 | J:91812
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
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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:155856
       
First Author: The Gene Ontology Consortium
Year: 2014
Title: Automated transfer of experimentally-verified manual GO annotation data to mouse-rat orthologs
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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
- | 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
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:293217
       
First Author: GemPharmatech
Year: 2020
Title: GemPharmatech Website.
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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:60000
       
First Author: UniProt-GOA
Year: 2012
Title: Gene Ontology annotation based on UniProtKB/Swiss-Prot keyword mapping
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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
21267068 | J:153498
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
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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: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
Cep290<tm1Jgg> | MGI:4835225
Name: centrosomal protein 290; targeted mutation 1, Joseph Gleeson
Allele Type: Targeted
Attribute String: Conditional ready
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Publication
26982032 | J:231293
First Author: Li C
Year: 2016
Journal: PLoS Biol
Title: MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone.
Volume: 14
Issue: 3
Pages: e1002416
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Publication
22767577 | J:199681
First Author: Stowe TR
Year: 2012
Journal: Mol Biol Cell
Title: The centriolar satellite proteins Cep72 and Cep290 interact and are required for recruitment of BBS proteins to the cilium.
Volume: 23
Issue: 17
Pages: 3322-35
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Publication
- | J:276029
     
First Author: Datta P
Year: 2019
Journal: bioRxiv
Title: CEP290 myosin-tail homology domain is essential for protein confinement between inner and outer segments in photoreceptors
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Publication
28235840 | -
First Author: Conkar D
Year: 2017
Journal: J Cell Sci
Title: The centriolar satellite protein CCDC66 interacts with CEP290 and functions in cilium formation and trafficking.
Volume: 130
Issue: 8
Pages: 1450-1462
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Allele
Cep290<rd16> | MGI:3624136
Name: centrosomal protein 290; retinal degeneration 16
Allele Type: Spontaneous
Attribute String: Hypomorph
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Allele
Cep290<Gt(CC0582)Wtsi> | MGI:3870362
Name: centrosomal protein 290; gene trap CC0582, Wellcome Trust Sanger Institute
Allele Type: Gene trapped
Attribute String: Hypomorph
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Allele
Cep290<tm1.1Jgg> | MGI:4835226
Name: centrosomal protein 290; targeted mutation 1.1, Joseph Gleeson
Allele Type: Targeted
Attribute String: Null/knockout
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Protein
Q6A078-2
Organism: Mus musculus/domesticus
Length: 808  
Fragment?: false
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Allele
Cep290<em1Smoc> | MGI:7288932
Name: centrosomal protein 290; endonuclease-mediated mutation 1, Shanghai Model Organisms Center
Allele Type: Endonuclease-mediated
Attribute String: Null/knockout
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Genotype
Genotype
Symbol: Cep290/Cep290
Background: involves: BXD24/TyJ * C57BL/6
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Cep290/Cep290
Background: involves: BXD24/TyJ
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Cep290/Cep290
Background: involves: 129
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Cep290/Cep290
Background: 129P2/OlaHsd-Cep290
Zygosity: hm
Has Mutant Allele: true
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DO Term
DOID:0111000 | Joubert syndrome 5
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DO Term
DOID:0110136 | Bardet-Biedl syndrome 14
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DO Term
DOID:0070118 | Meckel syndrome 4
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Publication
17705300 | -
First Author: Frank V
Year: 2008
Journal: Hum Mutat
Title: Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome.
Volume: 29
Issue: 1
Pages: 45-52
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Publication
33370260 | -
First Author: Wu Z
Year: 2020
Journal: PLoS Biol
Title: CEP290 is essential for the initiation of ciliary transition zone assembly.
Volume: 18
Issue: 12
Pages: e3001034
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Genotype
Genotype
Symbol: Cep290/Cep290 Nrl/Nrl
Background: involves: 129S1/Sv * 129X1/SvJ * BXD24/TyJ * C57BL/6
Zygosity: cx
Has Mutant Allele: true
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Strain
MGI:6474973 | C57BL/6JSmoc-Cep290<em1Smoc>/Smoc
Attribute String: coisogenic, endonuclease-mediated mutation, mutant strain
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Allele
Cep290<tm2.1Rwjc> | MGI:5578357
Name: centrosomal protein 290; targeted mutation 2.1, Robert WJ Collin
Allele Type: Targeted
Attribute String: Humanized sequence, Inserted expressed sequence
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Protein
Q6ZQ06
Organism: Mus musculus/domesticus
Length: 1403  
Fragment?: false
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Protein
Q05DS8
Organism: Mus musculus/domesticus
Length: 475  
Fragment?: true
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Protein
B9EKT8
Organism: Mus musculus/domesticus
Length: 1403  
Fragment?: false
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Protein Domain
IPR038774 | CEP162-like
Type: Family
Description: CEP162 (KIAA1009/QN1) is required for ciliogenesis. It is an axoneme-recognition protein that promotes and restricts transition zone formation at the cilia base. It has also been shown to interact with CEP290 and mediate its association with microtubules [].
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Protein Domain
IPR032321 | Cep209_CC5
Type: Domain
Description: Cep290 and similar centrosomal proteins carry a number of coiled-coil regions, and this is the fifth along the length of the protein. It is thought that the proteins are involved in cilia biosynthesis [].
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DO Term
DOID:0110291 | Leber congenital amaurosis 10
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Publication
22940612 | J:188915
First Author: Di Gioia SA
Year: 2012
Journal: Hum Mol Genet
Title: FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies.
Volume: 21
Issue: 23
Pages: 5174-84
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Protein Domain
IPR039183 | CCD66
Type: Family
Description: CCDC66 localizes to the centrosome and the centriolar satellites []. It interacts with CEP290 and functions in cilium formation and trafficking. It has also been shown to bind to microtubules in vitro and in vivo []. Mutations of the CCD66 gene in dogs cause progressive retinal atrophy []. Homologues are found only in metazoa.
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Allele
Nrl<tm1Asw> | MGI:2152376
Name: neural retina leucine zipper gene; targeted mutation 1, Anand Swaroop
Allele Type: Targeted
Attribute String: Null/knockout
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Strain
MGI:5314367 | B6.Cg-Cep290<rd16>/Boc
Attribute String: congenic, mutant strain, spontaneous mutation
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Strain
MGI:2163445 | BXD24/TyJ-Cep290<rd16>/J
Attribute String: recombinant inbred (RI), coisogenic, mutant strain, spontaneous mutation
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Strain
MGI:3654178 | BXD24/Ty-Cep290<rd16>
Attribute String: spontaneous mutation, mutant strain, coisogenic
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Strain
MGI:5654609 | (BXD24/Ty-Cep290<rd16> x CAST/EiJ)F1
Attribute String: F1 hybrid, mutant strain, spontaneous mutation
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Genotype
Genotype
Symbol: Cep290/Cep290
Background: BXD24/TyJ-Cep290/J
Zygosity: hm
Has Mutant Allele: true
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Gene
91147 | TMEM67
Type: gene
Organism: human
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Genotype
Genotype
Symbol: Cep290/Cep290<+> Spata7/Spata7
Background: involves: 129S7/SvEvBrd * BXD24/TyJ * C57BL/6J
Zygosity: cx
Has Mutant Allele: true
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Publication
19777273 | J:261912
First Author: Dekomien G
Year: 2010
Journal: Neurogenetics
Title: Progressive retinal atrophy in Schapendoes dogs: mutation of the newly identified CCDC66 gene.
Volume: 11
Issue: 2
Pages: 163-74
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Protein
Q6NS45
Organism: Mus musculus/domesticus
Length: 935  
Fragment?: false
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Publication
37640708 | J:341118
First Author: Huang Y
Year: 2023
Journal: Nat Commun
Title: DNAJA2 deficiency activates cGAS-STING pathway via the induction of aberrant mitosis and chromosome instability.
Volume: 14
Issue: 1
Pages: 5246
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Publication
25877302 | J:223340
First Author: Damerla RR
Year: 2015
Journal: Hum Mol Genet
Title: Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies.
Volume: 24
Issue: 14
Pages: 3994-4005
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Publication
38052787 | J:357625
First Author: Zhang L
Year: 2023
Journal: Cell Death Dis
Title: Phosphorylation of MIF by PIP4K2a is necessary for cilia biogenesis.
Volume: 14
Issue: 12
Pages: 795
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Publication
23637188 | J:197147
First Author: Li F
Year: 2013
Journal: J Neurosci
Title: Heterotrimeric G protein subunit Gγ13 is critical to olfaction.
Volume: 33
Issue: 18
Pages: 7975-84
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Publication
25937446 | J:230782
First Author: Migliavacca E
Year: 2015
Journal: Am J Hum Genet
Title: A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology.
Volume: 96
Issue: 5
Pages: 784-96
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Publication
23789104 | J:199465
First Author: Sillibourne JE
Year: 2013
Journal: Biol Open
Title: Primary ciliogenesis requires the distal appendage component Cep123.
Volume: 2
Issue: 6
Pages: 535-45
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Publication
23351659 | J:196617
First Author: Rachel RA
Year: 2012
Journal: Cilia
Title: Photoreceptor sensory cilia and ciliopathies: focus on CEP290, RPGR and their interacting proteins.
Volume: 1
Issue: 1
Pages: 22
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Publication
15489334 | -
First Author: Gerhard DS
Year: 2004
Journal: Genome Res
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
Volume: 14
Issue: 10B
Pages: 2121-7
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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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