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Search results 701 to 800 out of 876 for Smn1

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Type Details Score
Publication
11470819 | J:70593
First Author: Tucker KE
Year: 2001
Journal: J Cell Biol
Title: Residual Cajal bodies in coilin knockout mice fail to recruit Sm snRNPs and SMN, the spinal muscular atrophy gene product.
Volume: 154
Issue: 2
Pages: 293-307
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Publication
34073630 | J:338285
 
First Author: Malacarne C
Year: 2021
Journal: Int J Mol Sci
Title: Dysregulation of Muscle-Specific MicroRNAs as Common Pathogenic Feature Associated with Muscle Atrophy in ALS, SMA and SBMA: Evidence from Animal Models and Human Patients.
Volume: 22
Issue: 11
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Publication
20616011 | J:162409
First Author: Haramati S
Year: 2010
Journal: Proc Natl Acad Sci U S A
Title: miRNA malfunction causes spinal motor neuron disease.
Volume: 107
Issue: 29
Pages: 13111-6
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Publication
30012555 | J:272583
First Author: Van Alstyne M
Year: 2018
Journal: Genes Dev
Title: Dysregulation of Mdm2 and Mdm4 alternative splicing underlies motor neuron death in spinal muscular atrophy.
Volume: 32
Issue: 15-16
Pages: 1045-1059
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Publication
22641814 | J:185985
First Author: Subramanian N
Year: 2012
Journal: Hum Mol Genet
Title: Role of Na(v)1.9 in activity-dependent axon growth in motoneurons.
Volume: 21
Issue: 16
Pages: 3655-67
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Publication
25369768 | J:355155
First Author: Little D
Year: 2015
Journal: Mol Ther
Title: PTEN depletion decreases disease severity and modestly prolongs survival in a mouse model of spinal muscular atrophy.
Volume: 23
Issue: 2
Pages: 270-7
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Publication
34360794 | J:336193
 
First Author: Feng Z
Year: 2021
Journal: Int J Mol Sci
Title: Activation of Muscle-Specific Kinase (MuSK) Reduces Neuromuscular Defects in the Delta7 Mouse Model of Spinal Muscular Atrophy (SMA).
Volume: 22
Issue: 15
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Publication
36419936 | J:348134
 
First Author: Buettner JM
Year: 2022
Journal: Front Cell Neurosci
Title: p53-dependent c-Fos expression is a marker but not executor for motor neuron death in spinal muscular atrophy mouse models.
Volume: 16
Pages: 1038276
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Publication
27241020 | J:310658
 
First Author: Tseng YT
Year: 2016
Journal: Pharmacol Res
Title: Loganin possesses neuroprotective properties, restores SMN protein and activates protein synthesis positive regulator Akt/mTOR in experimental models of spinal muscular atrophy.
Volume: 111
Pages: 58-75
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Publication
23897586 | J:238830
First Author: Fallini C
Year: 2014
Journal: Dev Neurobiol
Title: Dynamics of survival of motor neuron (SMN) protein interaction with the mRNA-binding protein IMP1 facilitates its trafficking into motor neuron axons.
Volume: 74
Issue: 3
Pages: 319-332
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Publication
30010942 | J:267571
First Author: Kannan A
Year: 2018
Journal: Nucleic Acids Res
Title: Combined deficiency of Senataxin and DNA-PKcs causes DNA damage accumulation and neurodegeneration in spinal muscular atrophy.
Volume: 46
Issue: 16
Pages: 8326-8346
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Publication
20525971 | J:163195
First Author: Ning K
Year: 2010
Journal: Hum Mol Genet
Title: PTEN depletion rescues axonal growth defect and improves survival in SMN-deficient motor neurons.
Volume: 19
Issue: 16
Pages: 3159-68
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Publication
36607273 | J:347483
 
First Author: Hennlein L
Year: 2023
Journal: J Cell Biol
Title: Plastin 3 rescues cell surface translocation and activation of TrkB in spinal muscular atrophy.
Volume: 222
Issue: 3
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Publication
28379354 | J:242834
First Author: Kim JK
Year: 2017
Journal: Hum Mol Genet
Title: Motor neuronal repletion of the NMJ organizer, Agrin, modulates the severity of the spinal muscular atrophy disease phenotype in model mice.
Volume: 26
Issue: 13
Pages: 2377-2385
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Publication
37976261 | J:355053
First Author: Miller N
Year: 2023
Journal: Proc Natl Acad Sci U S A
Title: Mitigating aberrant Cdk5 activation alleviates mitochondrial defects and motor neuron disease symptoms in spinal muscular atrophy.
Volume: 120
Issue: 47
Pages: e2300308120
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Publication
35522298 | J:355072
First Author: Forouhan M
Year: 2022
Journal: Acta Neuropathol
Title: AR cooperates with SMAD4 to maintain skeletal muscle homeostasis.
Volume: 143
Issue: 6
Pages: 713-731
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Publication
24590288 | J:209625
First Author: Wishart TM
Year: 2014
Journal: J Clin Invest
Title: Dysregulation of ubiquitin homeostasis and β-catenin signaling promote spinal muscular atrophy.
Volume: 124
Issue: 4
Pages: 1821-34
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Publication
30188931 | J:265523
First Author: Strathmann EA
Year: 2018
Journal: PLoS One
Title: Evaluation of potential effects of Plastin 3 overexpression and low-dose SMN-antisense oligonucleotides on putative biomarkers in spinal muscular atrophy mice.
Volume: 13
Issue: 9
Pages: e0203398
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Publication
21300694 | J:170496
First Author: Peter CJ
Year: 2011
Journal: Hum Mol Genet
Title: The COPI vesicle complex binds and moves with survival motor neuron within axons.
Volume: 20
Issue: 9
Pages: 1701-11
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Publication
10640764 | J:59986
First Author: Diez E
Year: 2000
Journal: J Immunol
Title: The neuronal apoptosis inhibitory protein (Naip) is expressed in macrophages and is modulated after phagocytosis and during intracellular infection with Legionella pneumophila.
Volume: 164
Issue: 3
Pages: 1470-7
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Publication
10958627 | J:64117
First Author: Endrizzi MG
Year: 2000
Journal: Genome Res
Title: Genomic sequence analysis of the mouse Naip gene array.
Volume: 10
Issue: 8
Pages: 1095-102
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Publication
8975718 | J:37707
First Author: Scharf JM
Year: 1996
Journal: Genomics
Title: The mouse region syntenic for human spinal muscular atrophy lies within the Lgn1 critical interval and contains multiple copies of Naip exon 5.
Volume: 38
Issue: 3
Pages: 405-17
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Publication
33382987 | J:307754
 
First Author: Reedich EJ
Year: 2021
Journal: Exp Neurol
Title: Spinal motor neuron loss occurs through a p53-and-p21-independent mechanism in the Smn2B/- mouse model of spinal muscular atrophy.
Volume: 337
Pages: 113587
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Publication
30050118 | J:268452
First Author: Madaro L
Year: 2018
Journal: Nat Cell Biol
Title: Denervation-activated STAT3-IL-6 signalling in fibro-adipogenic progenitors promotes myofibres atrophy and fibrosis.
Volume: 20
Issue: 8
Pages: 917-927
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Publication
25878277 | J:221676
First Author: Miller N
Year: 2015
Journal: J Neurosci
Title: Non-aggregating tau phosphorylation by cyclin-dependent kinase 5 contributes to motor neuron degeneration in spinal muscular atrophy.
Volume: 35
Issue: 15
Pages: 6038-50
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Publication
26792401 | J:336824
 
First Author: Foran E
Year: 2016
Journal: Neurobiol Dis
Title: CNS uptake of bortezomib is enhanced by P-glycoprotein inhibition: implications for spinal muscular atrophy.
Volume: 88
Pages: 118-24
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Publication
28017471 | J:253263
First Author: d'Ydewalle C
Year: 2017
Journal: Neuron
Title: The Antisense Transcript SMN-AS1 Regulates SMN Expression and Is a Novel Therapeutic Target for Spinal Muscular Atrophy.
Volume: 93
Issue: 1
Pages: 66-79
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Publication
18492800 | J:138437
First Author: Kariya S
Year: 2008
Journal: Hum Mol Genet
Title: Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy.
Volume: 17
Issue: 16
Pages: 2552-69
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Publication
12483212 | J:81887
First Author: Diez E
Year: 2003
Journal: Nat Genet
Title: Birc1e is the gene within the Lgn1 locus associated with resistance to Legionella pneumophila.
Volume: 33
Issue: 1
Pages: 55-60
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Publication
19642194 | J:154795
First Author: Liu H
Year: 2010
Journal: J Neurosci Res
Title: Neurodevelopmental consequences of Smn depletion in a mouse model of spinal muscular atrophy.
Volume: 88
Issue: 1
Pages: 111-22
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Publication
10958634 | J:64163
First Author: Growney JD
Year: 2000
Journal: Genome Res
Title: High-resolution genetic and physical map of the Lgn1 interval in C57BL/6J implicates Naip2 or Naip5 in Legionella pneumophila pathogenesis.
Volume: 10
Issue: 8
Pages: 1158-71
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Publication
35848514 | J:331510
First Author: Chang WF
Year: 2022
Journal: Stem Cells Dev
Title: Survival Motor Neuron Enhances Pluripotent Gene Expression and Facilitates Cell Reprogramming.
Volume: 31
Issue: 21-22
Pages: 696-705
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Publication
20176735 | J:158711
First Author: Wen HL
Year: 2010
Journal: Hum Mol Genet
Title: Stathmin, a microtubule-destabilizing protein, is dysregulated in spinal muscular atrophy.
Volume: 19
Issue: 9
Pages: 1766-78
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Publication
16236758 | J:106808
First Author: Gabanella F
Year: 2005
Journal: Hum Mol Genet
Title: The activity of the spinal muscular atrophy protein is regulated during development and cellular differentiation.
Volume: 14
Issue: 23
Pages: 3629-42
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Publication
28811488 | J:279182
First Author: Genabai NK
Year: 2017
Journal: Sci Rep
Title: Deregulation of ZPR1 causes respiratory failure in spinal muscular atrophy.
Volume: 7
Issue: 1
Pages: 8295
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Publication
30291028 | J:273618
First Author: Shan M
Year: 2018
Journal: Immunity
Title: Secreted IgD Amplifies Humoral T Helper 2 Cell Responses by Binding Basophils via Galectin-9 and CD44.
Volume: 49
Issue: 4
Pages: 709-724.e8
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Publication
10708519 | J:61136
First Author: Growney JD
Year: 2000
Journal: Genomics
Title: Evolutionary divergence of the mouse and human Lgn1/SMA repeat structures.
Volume: 64
Issue: 1
Pages: 62-81
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Publication
34974536 | J:319558
     
First Author: Bizen N
Year: 2022
Journal: Cell Death Differ
Title: Ddx20, an Olig2 binding factor, governs the survival of neural and oligodendrocyte progenitor cells via proper Mdm2 splicing and p53 suppression.
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Publication
31330130 | J:282329
First Author: Hildebrandt MR
Year: 2019
Journal: Dev Biol
Title: Cytoplasmic aggregation of DDX1 in developing embryos: Early embryonic lethality associated with Ddx1 knockout.
Volume: 455
Issue: 2
Pages: 420-433
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Publication
- | J:326541
       
First Author: Cyagen Biosciences Inc.
Year: 2022
Title: Cyagen Biosciences Website.
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Publication
- | J:238766
     
First Author: Shanghai Model Organisms Center
Year: 2017
Journal: MGI Direct Data Submission
Title: Information obtained from the Shanghai Model Organisms Center (SMOC), Shanghai, China
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Publication
15226823 | J:93300
First Author: Blackshaw S
Year: 2004
Journal: PLoS Biol
Title: Genomic analysis of mouse retinal development.
Volume: 2
Issue: 9
Pages: E247
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Publication
20412781 | J:140465
First Author: Guo G
Year: 2010
Journal: Dev Cell
Title: Resolution of cell fate decisions revealed by single-cell gene expression analysis from zygote to blastocyst.
Volume: 18
Issue: 4
Pages: 675-85
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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
15618518 | J:91257
First Author: Gray PA
Year: 2004
Journal: Science
Title: Mouse brain organization revealed through direct genome-scale TF expression analysis.
Volume: 306
Issue: 5705
Pages: 2255-7
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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:57656
     
First Author: Lennon G
Year: 1999
Journal: Database Download
Title: WashU-HHMI Mouse EST Project
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Publication
- | J:136110
     
First Author: Velocigene
Year: 2008
Journal: MGI Direct Data Submission
Title: Alleles produced for the KOMP project by Velocigene (Regeneron Pharmaceuticals)
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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
- | J:342604
       
First Author: UniProt-GOA
Year: 2012
Title: Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt
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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:85000
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2003
Title: MGI Sequence Curation Reference
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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
11217851 | J:65060
First Author: Kawai J
Year: 2001
Journal: Nature
Title: Functional annotation of a full-length mouse cDNA collection.
Volume: 409
Issue: 6821
Pages: 685-90
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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:68900
     
First Author: The Jackson Laboratory Mouse Radiation Hybrid Database
Year: 2004
Journal: Database Release
Title: Mouse T31 Radiation Hybrid Data Load
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Publication
12466851 | J:80000
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
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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:57747
     
First Author: MGI Genome Annotation Group and UniGene Staff
Year: 2015
Journal: Database Download
Title: MGI-UniGene Interconnection Effort
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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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- | 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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- | 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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- | J:155221
     
First Author: Mouse Genome Informatics
Year: 2010
Journal: Database Release
Title: Protein Ontology Association Load.
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- | 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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- | 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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Publication
24892836 | J:218133
First Author: Doktor TK
Year: 2014
Journal: PLoS One
Title: Absence of an intron splicing silencer in porcine Smn1 intron 7 confers immunity to the exon skipping mutation in human SMN2.
Volume: 9
Issue: 6
Pages: e98841
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Interaction Experiment
Kim EK (2017)
Description: SMN1 functions as a novel inhibitor for TRAF6-mediated NF-B signaling.
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Allele
Smn1<tm3(SMN2/Smn1)Mrph> | MGI:3794199
Name: survival motor neuron 1; targeted mutation 3, Andrew Murphy
Allele Type: Targeted
Attribute String: Conditional ready, Humanized sequence, No functional change
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Genotype
Genotype
Symbol: Smn1/Smn1 Tg(SMN1*A2G)2023Ahmb/? Grm7/Grm7<+>
Background: involves: 129P2/OlaHsd * FVB/N
Zygosity: cx
Has Mutant Allele: true
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Allele
Smn1<tm5(Smn1/SMN2)Mrph> | MGI:3794202
Name: survival motor neuron 1; targeted mutation 5, Andrew Murphy
Allele Type: Targeted
Attribute String: Humanized sequence, Inserted expressed sequence
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Gene
6607 | SMN2
Type: gene
Organism: human
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Allele
Tg(SMN1*A2G)2023Ahmb | MGI:2448969
Name: transgene insertion 2023, Arthur H M Burghes
Allele Type: Transgenic
Attribute String: Humanized sequence, Inserted expressed sequence
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Genotype
Genotype
Symbol: Smn1/Smn1
Background: involves: 129S6/SvEvTac * C57BL/6J * C57BL/6NTac
Zygosity: hm
Has Mutant Allele: true
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Allele
Smn1<tm1.1Dscd> | MGI:4836979
Name: survival motor neuron 1; targeted mutation 1.1, Dawn S Chandler
Allele Type: Targeted
Attribute String: Humanized sequence
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Allele
Smn1<tm2Mrph> | MGI:3794065
Name: survival motor neuron 1; targeted mutation 2, Andrew Murphy
Allele Type: Targeted
Attribute String: Null/knockout, Reporter
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Allele
Smn1<tm1(SMN2)Cya> | MGI:7657325
Name: survival motor neuron 1; targeted mutation 1, Cyagen Biosciences
Allele Type: Targeted
Attribute String: Inserted expressed sequence, Null/knockout
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Allele
Tg(SMN2-SMN1*D44V)10Ahmb | MGI:6199460
Name: transgene insertion 10, Arthur H M Burghes
Allele Type: Transgenic
Attribute String: Humanized sequence, Inserted expressed sequence
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Allele
Tg(SMN2-SMN1*T274I)5Ahmb | MGI:6199465
Name: transgene insertion 5, Arthur H M Burghes
Allele Type: Transgenic
Attribute String: Humanized sequence, Inserted expressed sequence
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Allele
Tg(SMN2-SMN1*I116F)11Ahmb | MGI:6199484
Name: transgene insertion 11, Arthur H M Burghes
Allele Type: Transgenic
Attribute String: Humanized sequence, Inserted expressed sequence
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Allele
Smn1<tm1Smoc> | MGI:7292484
Name: survival motor neuron 1; targeted mutation 1, Shanghai Model Organisms Center
Allele Type: Targeted
Attribute String: Conditional ready, No functional change
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Strain
MGI:7657625 | C57BL/6N-Smn1<tm1(SMN2)Cya>/Cya
Attribute String: coisogenic, targeted mutation, mutant strain
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Genotype
Genotype
Symbol: Smn1/Smn1 Tg(SMN1*A2G)2023Ahmb/?
Background: involves: 129P2/OlaHsd * FVB/N
Zygosity: cx
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Smn1/Smn1
Background: involves: 129S/SvEv * 129S4/SvJaeSor * C57BL/6
Zygosity: hm
Has Mutant Allele: true
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DO Term
DOID:12376 | juvenile spinal muscular atrophy
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DO Term
DOID:0050530 | intermediate spinal muscular atrophy
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DO Term
DOID:0050529 | adult spinal muscular atrophy
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•
•
Protein
Q8BHE1
Organism: Mus musculus/domesticus
Length: 238  
Fragment?: false
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•
•
•
•
Protein
B1AVP5
Organism: Mus musculus/domesticus
Length: 207  
Fragment?: false
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•
•
•
•
Protein
E9QA54
Organism: Mus musculus/domesticus
Length: 147  
Fragment?: true
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•
•
•
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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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