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Search results 1 to 100 out of 3378 for Sacs

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Type Details Score
Gene
Type: gene
Organism: Homo sapiens
Gene
Type: gene
Organism: Danio rerio
Gene
Type: gene
Organism: Rattus norvegicus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Gene
Type: gene
Organism: Homo sapiens
Publication
First Author: Larivière R
Year: 2019
Journal: Mol Brain
Title: Sacs R272C missense homozygous mice develop an ataxia phenotype.
Volume: 12
Issue: 1
Pages: 19
Publication
First Author: Larivière R
Year: 2015
Journal: Hum Mol Genet
Title: Sacs knockout mice present pathophysiological defects underlying autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Volume: 24
Issue: 3
Pages: 727-39
Publication
First Author: Engert JC
Year: 2000
Journal: Nat Genet
Title: ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF.
Volume: 24
Issue: 2
Pages: 120-5
Publication
First Author: Parfitt DA
Year: 2009
Journal: Hum Mol Genet
Title: The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1.
Volume: 18
Issue: 9
Pages: 1556-65
Publication
First Author: Girard M
Year: 2012
Journal: Proc Natl Acad Sci U S A
Title: Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).
Volume: 109
Issue: 5
Pages: 1661-6
Publication
First Author: Ady V
Year: 2018
Journal: J Physiol
Title: Altered synaptic and firing properties of cerebellar Purkinje cells in a mouse model of ARSACS.
Volume: 596
Issue: 17
Pages: 4253-4267
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
Publication
First Author: Duncan EJ
Year: 2017
Journal: Hum Mol Genet
Title: Altered organization of the intermediate filament cytoskeleton and relocalization of proteostasis modulators in cells lacking the ataxia protein sacsin.
Volume: 26
Issue: 16
Pages: 3130-3143
Publication
First Author: Gentil BJ
Year: 2019
Journal: FASEB J
Title: Sacsin, mutated in the ataxia ARSACS, regulates intermediate filament assembly and dynamics.
Volume: 33
Issue: 2
Pages: 2982-2994
GXD Expression      
Probe: MGI:6752584
Assay Type: RT-PCR
Annotation Date: 2021-08-26
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1691020
Stage: TS20
Assay Id: MGI:6753205
Age: embryonic day 12.5
Specimen Label: PA1
Detected: true
Specimen Num: 1
GXD Expression      
Probe: MGI:6752584
Assay Type: RT-PCR
Annotation Date: 2021-08-26
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1691020
Stage: TS20
Assay Id: MGI:6753206
Age: embryonic day 12.5
Specimen Label: PA2
Detected: true
Specimen Num: 1
GXD Expression  
Probe: MGI:4426693
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1666823
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4827857
Age: embryonic day 14.5
Image: euxassay_014163_05
Specimen Label: euxassay_014163_05
Detected: true
Specimen Num: 4
GXD Expression  
Probe: MGI:4426693
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1666823
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4827857
Age: embryonic day 14.5
Image: euxassay_014163_06
Specimen Label: euxassay_014163_06
Detected: true
Specimen Num: 5
GXD Expression  
Probe: MGI:4426693
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1666823
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4827857
Age: embryonic day 14.5
Image: euxassay_014163_07
Specimen Label: euxassay_014163_07
Detected: true
Specimen Num: 6
GXD Expression  
Probe: MGI:4426693
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1666823
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4827857
Age: embryonic day 14.5
Image: euxassay_014163_08
Specimen Label: euxassay_014163_08
Detected: true
Specimen Num: 7
GXD Expression  
Probe: MGI:4426693
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1666823
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4827857
Age: embryonic day 14.5
Image: euxassay_014163_09
Specimen Label: euxassay_014163_09
Detected: true
Specimen Num: 8
GXD Expression  
Probe: MGI:4426693
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1666823
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4827857
Age: embryonic day 14.5
Image: euxassay_014163_10
Specimen Label: euxassay_014163_10
Detected: true
Specimen Num: 9
GXD Expression  
Probe: MGI:4426693
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1666823
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4827857
Age: embryonic day 14.5
Image: euxassay_014163_11
Specimen Label: euxassay_014163_11
Detected: true
Specimen Num: 10
GXD Expression  
Probe: MGI:4426693
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1666823
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4827857
Age: embryonic day 14.5
Image: euxassay_014163_12
Specimen Label: euxassay_014163_12
Detected: true
Specimen Num: 11
GXD Expression  
Probe: MGI:4426693
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1666823
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4827857
Age: embryonic day 14.5
Image: euxassay_014163_13
Specimen Label: euxassay_014163_13
Detected: true
Specimen Num: 12
GXD Expression  
Probe: MGI:4426693
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1666823
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4827857
Age: embryonic day 14.5
Image: euxassay_014163_14
Specimen Label: euxassay_014163_14
Detected: true
Specimen Num: 13
GXD Expression  
Probe: MGI:4426693
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1666823
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4827857
Age: embryonic day 14.5
Image: euxassay_014163_15
Specimen Label: euxassay_014163_15
Detected: true
Specimen Num: 14
GXD Expression  
Probe: MGI:4426693
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1679723
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4827857
Age: embryonic day 14.5
Image: euxassay_014163_02
Specimen Label: euxassay_014163_02
Detected: true
Specimen Num: 1
GXD Expression  
Probe: MGI:4426693
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1679723
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4827857
Age: embryonic day 14.5
Image: euxassay_014163_03
Specimen Label: euxassay_014163_03
Detected: true
Specimen Num: 2
GXD Expression  
Probe: MGI:4426693
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1679723
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4827857
Age: embryonic day 14.5
Image: euxassay_014163_04
Specimen Label: euxassay_014163_04
Detected: true
Specimen Num: 3
GXD Expression  
Probe: MGI:4426693
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1679723
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4827857
Age: embryonic day 14.5
Image: euxassay_014163_05
Specimen Label: euxassay_014163_05
Detected: true
Specimen Num: 4
GXD Expression  
Probe: MGI:4426693
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1679723
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4827857
Age: embryonic day 14.5
Image: euxassay_014163_06
Specimen Label: euxassay_014163_06
Detected: true
Specimen Num: 5
GXD Expression  
Probe: MGI:4426693
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1679723
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4827857
Age: embryonic day 14.5
Image: euxassay_014163_07
Specimen Label: euxassay_014163_07
Detected: true
Specimen Num: 6
GXD Expression  
Probe: MGI:4426693
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1679723
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4827857
Age: embryonic day 14.5
Image: euxassay_014163_08
Specimen Label: euxassay_014163_08
Detected: true
Specimen Num: 7
GXD Expression  
Probe: MGI:4426693
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1679723
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4827857
Age: embryonic day 14.5
Image: euxassay_014163_16
Specimen Label: euxassay_014163_16
Detected: true
Specimen Num: 15
GXD Expression  
Probe: MGI:4426693
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1679723
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4827857
Age: embryonic day 14.5
Image: euxassay_014163_17
Specimen Label: euxassay_014163_17
Detected: true
Specimen Num: 16
GXD Expression  
Probe: MGI:4426693
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1679723
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4827857
Age: embryonic day 14.5
Image: euxassay_014163_18
Specimen Label: euxassay_014163_18
Detected: true
Specimen Num: 17
GXD Expression  
Probe: MGI:4426693
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1679723
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4827857
Age: embryonic day 14.5
Image: euxassay_014163_19
Specimen Label: euxassay_014163_19
Detected: true
Specimen Num: 18
GXD Expression  
Probe: MGI:4426693
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1679723
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4827857
Age: embryonic day 14.5
Image: euxassay_014163_20
Specimen Label: euxassay_014163_20
Detected: true
Specimen Num: 19
GXD Expression  
Probe: MGI:4426693
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1679723
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4827857
Age: embryonic day 14.5
Image: euxassay_014163_21
Specimen Label: euxassay_014163_21
Detected: true
Specimen Num: 20
GXD Expression  
Probe: MGI:4426693
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1756923
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4827857
Age: embryonic day 14.5
Image: euxassay_014163_03
Specimen Label: euxassay_014163_03
Detected: true
Specimen Num: 2
GXD Expression  
Probe: MGI:4426693
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1756923
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4827857
Age: embryonic day 14.5
Image: euxassay_014163_04
Specimen Label: euxassay_014163_04
Detected: true
Specimen Num: 3
GXD Expression  
Probe: MGI:4426693
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1756923
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4827857
Age: embryonic day 14.5
Image: euxassay_014163_19
Specimen Label: euxassay_014163_19
Detected: true
Specimen Num: 18
GXD Expression  
Probe: MGI:4426693
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1756923
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4827857
Age: embryonic day 14.5
Image: euxassay_014163_20
Specimen Label: euxassay_014163_20
Detected: true
Specimen Num: 19
GXD Expression  
Probe: MGI:4426693
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1679523
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4827857
Age: embryonic day 14.5
Image: euxassay_014163_05
Specimen Label: euxassay_014163_05
Detected: true
Specimen Num: 4
GXD Expression  
Probe: MGI:4426693
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1679823
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4827857
Age: embryonic day 14.5
Image: euxassay_014163_06
Specimen Label: euxassay_014163_06
Detected: true
Specimen Num: 5
GXD Expression  
Probe: MGI:4426693
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1679823
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4827857
Age: embryonic day 14.5
Image: euxassay_014163_16
Specimen Label: euxassay_014163_16
Detected: true
Specimen Num: 15
Publication
First Author: Marschang P
Year: 2004
Journal: Mol Cell Biol
Title: Normal development and fertility of knockout mice lacking the tumor suppressor gene LRP1b suggest functional compensation by LRP1.
Volume: 24
Issue: 9
Pages: 3782-93
MP Term
Publication
First Author: Mattiske T
Year: 2016
Journal: Hum Mol Genet
Title: Embryonic forebrain transcriptome of mice with polyalanine expansion mutations in the ARX homeobox gene.
Volume: 25
Issue: 24
Pages: 5433-5443
Publication      
First Author: Nutter L
Year: 2022
Journal: MGI Direct Data Submission
Title: Direct Data Submission for The Centre for Phenogenomics Alleles.
Publication      
First Author: Toronto Centre for Phenogenomics
Year: 2013
Journal: MGI Direct Data Submission
Title: Strains and alleles submitted by Toronto Centre for Phenogenomics (NorCOMM2, funded by Genome Canada and Ontario Genomics Institute OGI-051).
Protein
Organism: Mus musculus
Length: 744  
Fragment?: false
Publication      
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)
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2003
Title: MGI Sequence Curation Reference
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: 2010
Title: Human to Mouse ISO GO annotation transfer
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: The Jackson Laboratory Mouse Radiation Hybrid Database
Year: 2004
Journal: Database Release
Title: Mouse T31 Radiation Hybrid Data Load
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Mouse Genome Informatics Computational Sequence to Gene Associations
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: 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 Database and National Center for Biotechnology Information
Year: 2000
Journal: Database Release
Title: Entrez Gene Load
Publication      
First Author: Bairoch A
Year: 1999
Journal: Database Release
Title: SWISS-PROT Annotated protein sequence database
Publication      
First Author: Mouse Genome Informatics Group
Year: 2003
Journal: Database Procedure
Title: Automatic Encodes (AutoE) Reference
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 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: 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: Allen Institute for Brain Science
Year: 2004
Journal: Allen Institute
Title: Allen Brain Atlas: mouse riboprobes
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
MP Term
Publication
First Author: Vondenhoff MF
Year: 2009
Journal: Development
Title: Lymph sacs are not required for the initiation of lymph node formation.
Volume: 136
Issue: 1
Pages: 29-34
Publication
First Author: Yasuda Y
Year: 1996
Journal: Dev Dyn
Title: Erythropoietin in mouse avascular yolk sacs is increased by retinoic acid.
Volume: 207
Issue: 2
Pages: 184-94
GXD Expression      
Probe: MGI:1202909
Assay Type: Northern blot
Annotation Date: 2003-12-03
Strength: Absent
Sex: Male
Emaps: EMAPS:1796828
Stage: TS28
Assay Id: MGI:2680450
Age: postnatal adult
Specimen Label: Scrotal sacs
Detected: false
Specimen Num: 13
Publication
First Author: François M
Year: 2012
Journal: Dev Biol
Title: Segmental territories along the cardinal veins generate lymph sacs via a ballooning mechanism during embryonic lymphangiogenesis in mice.
Volume: 364
Issue: 2
Pages: 89-98
HT Experiment
Series Id: GSE51407
Experiment Type: transcription profiling by array
Study Type: WT vs. Mutant
Source: ArrayExpress