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Search results 1 to 77 out of 77 for Sh3tc2

0.039s
Type Details Score
Gene
Type: gene
Organism: Homo sapiens
Gene
Type: gene
Organism: Rattus norvegicus
Gene
Type: gene
Organism: Danio rerio
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Gene
Type: gene
Organism: Homo sapiens
Publication
First Author: Gouttenoire EA
Year: 2013
Journal: Glia
Title: Sh3tc2 deficiency affects neuregulin-1/ErbB signaling.
Volume: 61
Issue: 7
Pages: 1041-51
Publication      
First Author: Burgess RW
Year: 2016
Journal: MGI Direct Data Submission
Title: A spontaneous allele of Sh3tc2
Publication
First Author: Arnaud E
Year: 2009
Journal: Proc Natl Acad Sci U S A
Title: SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system.
Volume: 106
Issue: 41
Pages: 17528-33
Publication
First Author: Schiza N
Year: 2019
Journal: Brain
Title: Gene replacement therapy in a model of Charcot-Marie-Tooth 4C neuropathy.
Volume: 142
Issue: 5
Pages: 1227-1241
Publication
First Author: Morelli KH
Year: 2017
Journal: Cell Rep
Title: Severity of Demyelinating and Axonal Neuropathy Mouse Models Is Modified by Genes Affecting Structure and Function of Peripheral Nodes.
Volume: 18
Issue: 13
Pages: 3178-3191
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    
Assay Type: In situ reporter (knock in)
Annotation Date: 2017-05-02
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1603920
Pattern: Not Specified
Stage: TS20
Assay Id: MGI:5896025
Age: embryonic day 12.5
Image: JAX-JAX_001-IMPC_ELZ_001-IMPC_ELZ_064_001-266507
Detected: true
Specimen Num: 4
GXD Expression    
Assay Type: In situ reporter (knock in)
Annotation Date: 2017-05-02
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1603920
Pattern: Not Specified
Stage: TS20
Assay Id: MGI:5896025
Age: embryonic day 12.5
Image: JAX-JAX_001-IMPC_ELZ_001-IMPC_ELZ_064_001-266505
Detected: true
Specimen Num: 3
GXD Expression    
Assay Type: In situ reporter (knock in)
Annotation Date: 2017-05-02
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1603920
Pattern: Not Specified
Stage: TS20
Assay Id: MGI:5896025
Age: embryonic day 12.5
Image: JAX-JAX_001-IMPC_ELZ_001-IMPC_ELZ_064_001-266503
Detected: true
Specimen Num: 2
GXD Expression    
Assay Type: In situ reporter (knock in)
Annotation Date: 2017-05-02
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1603920
Pattern: Not Specified
Stage: TS20
Assay Id: MGI:5896025
Age: embryonic day 12.5
Image: JAX-JAX_001-IMPC_ELZ_001-IMPC_ELZ_064_001-266501
Detected: true
Specimen Num: 1
Publication
First Author: Auclair G
Year: 2016
Journal: Genome Res
Title: EHMT2 directs DNA methylation for efficient gene silencing in mouse embryos.
Volume: 26
Issue: 2
Pages: 192-202
Publication
First Author: Sundberg JP
Year: 2017
Journal: PLoS One
Title: Systematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program.
Volume: 12
Issue: 7
Pages: e0180682
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: The Jackson Laboratory
Year: 2012
Journal: MGI Direct Data Submission
Title: Alleles produced for the KOMP project by The Jackson Laboratory
Publication
First Author: Dickinson ME
Year: 2016
Journal: Nature
Title: High-throughput discovery of novel developmental phenotypes.
Volume: 537
Issue: 7621
Pages: 508-514
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 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: 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: 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: MGI Genome Annotation Group and UniGene Staff
Year: 2015
Journal: Database Download
Title: MGI-UniGene Interconnection Effort
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, 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: 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 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
Protein
Organism: Mus musculus
Length: 994  
Fragment?: true
Publication
First Author: Vijay S
Year: 2016
Journal: Biochim Biophys Acta
Title: Exclusive expression of the Rab11 effector SH3TC2 in Schwann cells links integrin-α6 and myelin maintenance to Charcot-Marie-Tooth disease type 4C.
Volume: 1862
Issue: 7
Pages: 1279-90
Allele
Name: SH3 domain and tetratricopeptide repeats 2; targeted mutation 1.1, Roman Chrast
Allele Type: Targeted
Attribute String: Null/knockout, Reporter
Publication categories: ProxyCollection
Genotype
Symbol: Sh3tc2/Sh3tc2
Background: involves: 129/Sv * FVB/N
Zygosity: hm
Has Mutant Allele: true
DO Term
Publication
First Author: Senderek J
Year: 2003
Journal: Am J Hum Genet
Title: Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.
Volume: 73
Issue: 5
Pages: 1106-19
Protein Domain
Type: Family
Description: This entry includes SH3TC1 and SH3TC2. SH3TC2 is an effector of Rab11 in Schwann cells []. Mutations of the SH3TC2 gene cause Charcot-Marie-Tooth disease 4C (CMT4C), a recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterised by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms []. The function of SH3TC1 is not clear.
Protein
Organism: Mus musculus
Length: 1012  
Fragment?: true
Protein
Organism: Mus musculus
Length: 947  
Fragment?: true
Protein
Organism: Mus musculus
Length: 610  
Fragment?: true
Protein
Organism: Mus musculus
Length: 130  
Fragment?: true
Protein
Organism: Mus musculus
Length: 1289  
Fragment?: false
Protein
Organism: Mus musculus
Length: 1346  
Fragment?: false
Protein
Organism: Mus musculus
Length: 749  
Fragment?: true
Protein
Organism: Mus musculus
Length: 1346  
Fragment?: false
Protein
Organism: Mus musculus
Length: 1346  
Fragment?: false
Protein
Organism: Mus musculus
Length: 749  
Fragment?: true
Protein
Organism: Mus musculus
Length: 1150  
Fragment?: true
Protein
Organism: Mus musculus
Length: 1228  
Fragment?: false
Protein
Organism: Mus musculus
Length: 1147  
Fragment?: true
Publication
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