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Search results 1 to 100 out of 104 for Spata7

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0.038s
Type Details Score
Gene
Type: gene
Organism: human
Gene
Type: gene
Organism: chimpanzee
Gene
Type: gene
Organism: cattle
Gene
Type: gene
Organism: chicken
Gene
Type: gene
Organism: zebrafish
Gene
Type: gene
Organism: macaque, rhesus
Gene
Type: gene
Organism: frog, western clawed
Gene
Type: gene
Organism: rat
Gene
Type: gene
Organism: dog, domestic
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Domain
Type: Family
Description: This entry represents the spermatogenesis-associated protein 7 (SPATA7, also known as HSD3). It was first identified in human spermatocytes. Later on, it was also found expressed in multiple layers of the mature mouse retina []. Mutations in SPATA7 cause Leber congenital amaurosis 3 (LCA3), which is a severe dystrophy of the retina, typically becoming evident in the first years of life [, ]. Mutations in SPATA7 also cause autosomal recessive retinitis pigmentosa (ARRP), which is a retinal dystrophy belonging to the group of pigmentary retinopathies [].
Publication
First Author: Wang H
Year: 2009
Journal: Am J Hum Genet
Title: Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa.
Volume: 84
Issue: 3
Pages: 380-7
Publication
First Author: Perrault I
Year: 2010
Journal: Hum Mutat
Title: Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype.
Volume: 31
Issue: 3
Pages: E1241-50
Publication
First Author: Lu J
Year: 2022
Journal: Sci Rep
Title: Spata7 is required for maintenance of the retinal connecting cilium.
Volume: 12
Issue: 1
Pages: 5575
Publication  
First Author: Eblimit A
Year: 2018
Journal: Exp Eye Res
Title: Conditional loss of Spata7 in photoreceptors causes progressive retinal degeneration in mice.
Volume: 166
Pages: 120-130
Publication
First Author: Dharmat R
Year: 2018
Journal: J Cell Biol
Title: SPATA7 maintains a novel photoreceptor-specific zone in the distal connecting cilium.
Volume: 217
Issue: 8
Pages: 2851-2865
Publication
First Author: Eblimit A
Year: 2015
Journal: Hum Mol Genet
Title: Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina.
Volume: 24
Issue: 6
Pages: 1584-601
Protein
Organism: Mus musculus/domesticus
Length: 582  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 550  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 415  
Fragment?: false
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus caroli
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus pahari
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus spretus
GXD Expression      
Probe: MGI:6110158
Assay Type: RNA in situ
Annotation Date: 2018-01-16
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1619824
Stage: TS24
Assay Id: MGI:6110160
Age: embryonic day 16.5
Specimen Label: 3A
Detected: false
Specimen Num: 1
GXD Expression      
Probe: MGI:6110163
Assay Type: Immunohistochemistry
Annotation Date: 2018-01-16
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1716828
Stage: TS28
Assay Id: MGI:6110169
Age: postnatal day 4
Specimen Label: 3D
Detected: false
Specimen Num: 1
GXD Expression      
Probe: MGI:6110158
Assay Type: RNA in situ
Annotation Date: 2018-01-16
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1716828
Stage: TS28
Assay Id: MGI:6110160
Age: postnatal day 4
Specimen Label: 3B
Detected: false
Specimen Num: 2
GXD Expression    
Probe: MGI:1404065
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:3585657
Age: postnatal day 6-7
Specimen Label: P6/7
Detected: true
Specimen Num: 5
GXD Expression    
Probe: MGI:6110158
Assay Type: RNA in situ
Annotation Date: 2018-01-16
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1915528
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:6110160
Age: postnatal day 21
Specimen Label: 3C
Detected: true
Specimen Num: 3
GXD Expression    
Probe: MGI:6110163
Assay Type: Immunohistochemistry
Annotation Date: 2018-01-16
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1915528
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:6110169
Age: postnatal day 21
Specimen Label: 3G
Detected: true
Specimen Num: 2
GXD Expression    
Probe: MGI:6110158
Assay Type: RNA in situ
Annotation Date: 2018-01-16
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3568728
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:6110160
Age: postnatal day 21
Specimen Label: 3C
Detected: true
Specimen Num: 3
GXD Expression    
Probe: MGI:6110163
Assay Type: Immunohistochemistry
Annotation Date: 2018-01-16
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3568728
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:6110169
Age: postnatal day 21
Specimen Label: 3G
Detected: true
Specimen Num: 2
GXD Expression    
Probe: MGI:6110163
Assay Type: Immunohistochemistry
Annotation Date: 2018-01-16
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3568728
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:6110169
Age: postnatal day 21
Specimen Label: 3J
Detected: true
Specimen Num: 3
GXD Expression  
Probe: MGI:1404065
Assay Type: RNA in situ
Annotation Date: 2005-08-30
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1647028
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:3585657
Age: postnatal day 6
Note: Expression was widespread.
Specimen Label: CNS
Detected: true
Specimen Num: 8
GXD Expression    
Assay Type: In situ reporter (knock in)
Annotation Date: 2021-04-16
Strength: Present
Sex: Female
Emaps: EMAPS:1603920
Pattern: Not Specified
Stage: TS20
Assay Id: MGI:6692420
Age: embryonic day 12.5
Image: JAX_1128423
Specimen Label: JAX_1128423
Detected: true
Specimen Num: 1
GXD Expression    
Assay Type: In situ reporter (knock in)
Annotation Date: 2021-04-16
Strength: Present
Sex: Female
Emaps: EMAPS:1603920
Pattern: Not Specified
Stage: TS20
Assay Id: MGI:6692420
Age: embryonic day 12.5
Image: JAX_1128425
Specimen Label: JAX_1128425
Detected: true
Specimen Num: 2
GXD Expression    
Assay Type: In situ reporter (knock in)
Annotation Date: 2021-04-16
Strength: Present
Sex: Female
Emaps: EMAPS:1603920
Pattern: Not Specified
Stage: TS20
Assay Id: MGI:6692420
Age: embryonic day 12.5
Image: JAX_1128427
Specimen Label: JAX_1128427
Detected: true
Specimen Num: 3
GXD Expression    
Assay Type: In situ reporter (knock in)
Annotation Date: 2021-04-16
Strength: Present
Sex: Female
Emaps: EMAPS:1603920
Pattern: Not Specified
Stage: TS20
Assay Id: MGI:6692420
Age: embryonic day 12.5
Image: JAX_1128429
Specimen Label: JAX_1128429
Detected: true
Specimen Num: 4
GXD Expression    
Assay Type: In situ reporter (knock in)
Annotation Date: 2021-04-16
Strength: Present
Sex: Female
Emaps: EMAPS:1603920
Pattern: Not Specified
Stage: TS20
Assay Id: MGI:6692420
Age: embryonic day 12.5
Image: JAX_1128439
Specimen Label: JAX_1128439
Detected: true
Specimen Num: 5
GXD Expression    
Assay Type: In situ reporter (knock in)
Annotation Date: 2021-04-16
Strength: Present
Sex: Female
Emaps: EMAPS:1603920
Pattern: Not Specified
Stage: TS20
Assay Id: MGI:6692420
Age: embryonic day 12.5
Image: JAX_1128441
Specimen Label: JAX_1128441
Detected: true
Specimen Num: 6
GXD Expression    
Assay Type: In situ reporter (knock in)
Annotation Date: 2021-04-16
Strength: Present
Sex: Female
Emaps: EMAPS:1603920
Pattern: Not Specified
Stage: TS20
Assay Id: MGI:6692420
Age: embryonic day 12.5
Image: JAX_1128443
Specimen Label: JAX_1128443
Detected: true
Specimen Num: 7
GXD Expression    
Assay Type: In situ reporter (knock in)
Annotation Date: 2021-04-16
Strength: Present
Sex: Female
Emaps: EMAPS:1603920
Pattern: Not Specified
Stage: TS20
Assay Id: MGI:6692420
Age: embryonic day 12.5
Image: JAX_1128445
Specimen Label: JAX_1128445
Detected: true
Specimen Num: 8
GXD Expression    
Probe: MGI:1404065
Assay Type: RNA in situ
Annotation Date: 2005-08-30
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3274328
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:3585657
Age: postnatal day 6
Specimen Label: CNS
Detected: true
Specimen Num: 8
GXD Expression  
Probe: MGI:1404065
Assay Type: RNA in situ
Annotation Date: 2005-08-30
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1915726
Pattern: Not Specified
Stage: TS26
Assay Id: MGI:3585657
Age: embryonic day 18.0
Note: Expression was detected in the outer neuroblastic layer.
Specimen Label: E18
Detected: true
Specimen Num: 1
GXD Expression  
Probe: MGI:1404065
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:3585657
Age: postnatal day 0-1
Note: Expression was detected in the outer neuroblastic layer.
Specimen Label: P0/1
Detected: true
Specimen Num: 2
GXD Expression  
Probe: MGI:1404065
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:3585657
Age: postnatal day 2-3
Note: Expression was detected in the outer neuroblastic layer.
Specimen Label: P2/3
Detected: true
Specimen Num: 3
GXD Expression  
Probe: MGI:1404065
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:3585657
Age: postnatal day 4-5
Note: Expression was detected in the outer neuroblastic layer.
Specimen Label: P4/5
Detected: true
Specimen Num: 4
GXD Expression    
Probe: MGI:1404065
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:3585657
Age: postnatal day 6-7
Specimen Label: P6/7
Detected: true
Specimen Num: 5
GXD Expression    
Probe: MGI:1404065
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:3585657
Age: postnatal day 8-10
Specimen Label: P8/10
Detected: true
Specimen Num: 6
GXD Expression    
Probe: MGI:1404065
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:3585657
Age: postnatal adult
Specimen Label: Adult
Detected: true
Specimen Num: 7
GXD Expression    
Probe: MGI:6110158
Assay Type: RNA in situ
Annotation Date: 2018-01-16
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3573928
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:6110160
Age: postnatal day 21
Specimen Label: 3C
Detected: true
Specimen Num: 3
GXD Expression    
Probe: MGI:6110163
Assay Type: Immunohistochemistry
Annotation Date: 2018-01-16
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3573928
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:6110169
Age: postnatal day 21
Specimen Label: 3G
Detected: true
Specimen Num: 2
GXD Expression    
Probe: MGI:6110163
Assay Type: Immunohistochemistry
Annotation Date: 2018-01-16
Strength: Trace
Sex: Not Specified
Emaps: EMAPS:3568828
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:6110169
Age: postnatal day 21
Specimen Label: 3J
Detected: true
Specimen Num: 3
Publication
First Author: Kasowitz SD
Year: 2018
Journal: PLoS Genet
Title: Nuclear m6A reader YTHDC1 regulates alternative polyadenylation and splicing during mouse oocyte development.
Volume: 14
Issue: 5
Pages: e1007412
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: Mouse Genome Database and National Center for Biotechnology Information Editorial Staff Collaboration
Year: 2001
Title: LocusLink Collaboration
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: The Jackson Laboratory
Year: 2012
Journal: MGI Direct Data Submission
Title: Alleles produced for the KOMP project by The Jackson Laboratory
Publication
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
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Mouse Genome Informatics Computational Sequence to Gene Associations for FANTOM2 data
Publication      
First Author: Lennon G
Year: 1999
Journal: Database Download
Title: WashU-HHMI Mouse EST Project
Publication      
First Author: Velocigene
Year: 2008
Journal: MGI Direct Data Submission
Title: Alleles produced for the KOMP project by Velocigene (Regeneron Pharmaceuticals)
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: GOA curators
Year: 2016
Title: Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
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: GemPharmatech
Year: 2020
Title: GemPharmatech Website.
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: 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
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: 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: Mouse Genome Informatics Scientific Curators
Year: 2010
Title: Human to Mouse ISO GO annotation transfer
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Mouse Genome Informatics Computational Sequence to Gene Associations
Publication      
First Author: MGI Genome Annotation Group and UniGene Staff
Year: 2015
Journal: Database Download
Title: MGI-UniGene Interconnection Effort
Publication        
First Author: Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas
Year: 2010
Title: Annotation inferences using phylogenetic trees
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: Bairoch A
Year: 1999
Journal: Database Release
Title: SWISS-PROT Annotated protein sequence database
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations
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 (MGI) and The National Center for Biotechnology Information (NCBI)
Year: 2010
Journal: Database Download
Title: Consensus CDS project
Publication      
First Author: Mouse Genome Informatics
Year: 2010
Journal: Database Release
Title: Protein Ontology Association Load.
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 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 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