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Search results 201 to 276 out of 276 for Ighmbp2

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Type Details Score
Publication
10087069 | J:53928
First Author: Cooper JD
Year: 1999
Journal: J Neurosci
Title: Apparent loss and hypertrophy of interneurons in a mouse model of neuronal ceroid lipofuscinosis: evidence for partial response to insulin-like growth factor-1 treatment.
Volume: 19
Issue: 7
Pages: 2556-67
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Publication
7613514 | J:23643
First Author: Tanner A
Year: 1995
Journal: Cell Biol Int
Title: Batten disease fibroblasts in culture accumulate mitochondrial ATP synthase subunit 9.
Volume: 19
Issue: 1
Pages: 71-5
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Publication
10709991 | J:61295
First Author: Scimeca JC
Year: 2000
Journal: Bone
Title: The gene encoding the mouse homologue of the human osteoclast-specific 116-kDa V-ATPase subunit bears a deletion in osteosclerotic (oc/oc) mutants.
Volume: 26
Issue: 3
Pages: 207-13
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Publication
7749225 | J:23584
First Author: Cook SA
Year: 1995
Journal: Mamm Genome
Title: Neuromuscular degeneration (nmd): a mutation on mouse chromosome 19 that causes motor neuron degeneration.
Volume: 6
Issue: 3
Pages: 187-91
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Publication
9883726 | J:51890
First Author: Cox GA
Year: 1998
Journal: Neuron
Title: Identification of the mouse neuromuscular degeneration gene and mapping of a second site suppressor allele.
Volume: 21
Issue: 6
Pages: 1327-37
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Publication
12917329 | J:85091
First Author: Matsuoka TA
Year: 2003
Journal: Mol Cell Biol
Title: Members of the large Maf transcription family regulate insulin gene transcription in islet beta cells.
Volume: 23
Issue: 17
Pages: 6049-62
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Publication
19741192 | J:154181
First Author: Zhang B
Year: 2009
Journal: Blood
Title: Repulsive axon guidance molecule Slit3 is a novel angiogenic factor.
Volume: 114
Issue: 19
Pages: 4300-9
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Publication
10527800 | J:58176
First Author: Elliott JL
Year: 1999
Journal: Neurobiol Dis
Title: Experimental models of amyotrophic lateral sclerosis.
Volume: 6
Issue: 5
Pages: 310-20
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Publication
8861101 | J:32832
First Author: Kaestner KH
Year: 1996
Journal: Mech Dev
Title: Expression of the winged helix genes fkh-4 and fkh-5 defines domains in the central nervous system.
Volume: 55
Issue: 2
Pages: 221-30
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Publication
- | J:326541
       
First Author: Cyagen Biosciences Inc.
Year: 2022
Title: Cyagen Biosciences Website.
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Publication
22988430 | J:190636
 
First Author: Wiese CB
Year: 2012
Journal: Front Neurosci
Title: A genome-wide screen to identify transcription factors expressed in pelvic Ganglia of the lower urinary tract.
Volume: 6
Pages: 130
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Publication
- | J:237616
     
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)
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Publication
20059953 | J:156017
First Author: Yokoyama S
Year: 2009
Journal: Dev Cell
Title: A systems approach reveals that the myogenesis genome network is regulated by the transcriptional repressor RP58.
Volume: 17
Issue: 6
Pages: 836-48
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Publication
- | J:72245
       
First Author: GOA curators, MGI curators
Year: 2001
Title: Gene Ontology annotation based on Enzyme Commission mapping
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Publication
- | J:94790
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Mouse Synonym Curation
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Publication
12904583 | J:85162
First Author: Hansen J
Year: 2003
Journal: Proc Natl Acad Sci U S A
Title: A large-scale, gene-driven mutagenesis approach for the functional analysis of the mouse genome.
Volume: 100
Issue: 17
Pages: 9918-22
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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
14681479 | J:122989
First Author: Visel A
Year: 2004
Journal: Nucleic Acids Res
Title: GenePaint.org: an atlas of gene expression patterns in the mouse embryo.
Volume: 32
Issue: Database issue
Pages: D552-6
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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:171409
     
First Author: GUDMAP Consortium
Year: 2004
Journal: www.gudmap.org
Title: GUDMAP: the GenitoUrinary Development Molecular Anatomy Project
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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
18799693 | J:142754
First Author: Hansen GM
Year: 2008
Journal: Genome Res
Title: Large-scale gene trapping in C57BL/6N mouse embryonic stem cells.
Volume: 18
Issue: 10
Pages: 1670-9
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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
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:23000
       
First Author: MGD Nomenclature Committee
Year: 1995
Title: Nomenclature Committee Use
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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: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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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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Interaction Experiment
de Planell-Saguer M (2009)
Description: Biochemical and genetic evidence for a role of IGHMBP2 in the translational machinery.
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Protein
P40694
Organism: Mus musculus/domesticus
Length: 993  
Fragment?: false
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Allele
Ighmbp2<em1Cx> | MGI:7495583
Name: immunoglobulin mu DNA binding protein 2; endonuclease-mediated mutation 1, Gregory Cox
Allele Type: Endonuclease-mediated
Attribute String: Not Specified
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Allele
Ighmbp2<em5Cx> | MGI:7495802
Name: immunoglobulin mu DNA binding protein 2; endonuclease-mediated mutation 5, Gregory Cox
Allele Type: Endonuclease-mediated
Attribute String: Humanized sequence
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Genotype
Genotype
Symbol: Ighmbp2/Ighmbp2
Background: C57BL/6J-Ighmbp2/Cx
Zygosity: hm
Has Mutant Allele: true
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DO Term
DOID:0110171 | Charcot-Marie-Tooth disease axonal type 2S
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Genotype
Genotype
Symbol: Ighmbp2/Ighmbp2
Background: C57BL/6J-Ighmbp2/Cx
Zygosity: hm
Has Mutant Allele: true
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Allele
Ighmbp2<nmd-2J> | MGI:1857648
 
Name: immunoglobulin mu DNA binding protein 2; neuromuscular degeneration 2 Jackson
Allele Type: Spontaneous
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Allele
Ighmbp2<em1Cll> | MGI:7314213
Name: immunoglobulin mu DNA binding protein 2; endonuclease-mediated mutation 1, Christian L Lorson
Allele Type: Endonuclease-mediated
Attribute String: Humanized sequence
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Genotype
Genotype
Symbol: Ighmbp2/Ighmbp2
Background: B6.BKS-Ighmbp2/J
Zygosity: hm
Has Mutant Allele: true
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DO Term
DOID:0111064 | autosomal recessive distal hereditary motor neuronopathy 1
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Genotype
Genotype
Symbol: Ighmbp2/Ighmbp2
Background: FVB/NJ-Ighmbp2
Zygosity: hm
Has Mutant Allele: true
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Allele
Tg(Eno2-Ighmbp2)17Cx | MGI:3765055
Name: transgene insertion 17, Gregory A Cox
Allele Type: Transgenic
Attribute String: Inserted expressed sequence
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Allele
Tg(Eno2-Ighmbp2)90Cx | MGI:3784996
Name: transgene insertion 90, Gregory A Cox
Allele Type: Transgenic
Attribute String: Inserted expressed sequence
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Allele
Tg(Ttn-Ighmbp2)45Cx | MGI:3785076
Name: transgene insertion 45, Gregory A Cox
Allele Type: Transgenic
Attribute String: Inserted expressed sequence
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Allele
Tg(Ttn-Ighmbp2)108Cx | MGI:3785079
Name: transgene insertion 108, Gregory A Cox
Allele Type: Transgenic
Attribute String: Inserted expressed sequence
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Allele
Ighmbp2<tm1(IGHMBP2)Cya> | MGI:7657266
Name: immunoglobulin mu DNA binding protein 2; targeted mutation 1, Cyagen Biosciences
Allele Type: Targeted
Attribute String: Inserted expressed sequence, Null/knockout
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Strain
MGI:7657615 | C57BL/6N-Ighmbp2<tm1(IGHMBP2)Cya>/Cya
Attribute String: coisogenic, targeted mutation, mutant strain
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Publication
9341218 | -
First Author: Biswas EE
Year: 1997
Journal: Biochemistry
Title: Yeast DNA helicase A: cloning, expression, purification, and enzymatic characterization.
Volume: 36
Issue: 43
Pages: 13277-84
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Protein Domain
IPR004483 | SMUBP-2/Hcs1-like
Type: Family
Description: Proteins in this entry belong to the DNA2/NAM7 helicase family, including SMUBP-2 from humans, DNA polymerase alpha-associated DNA helicase A (also konwn as Hcs1) from budding yeasts and some putative helicases from prokaryotes. DNA-binding protein SMUBP-2 (also known as IGHMBP2, CATF1) is a 5' to 3' helicase that unwinds RNA and DNA duplices in an ATP-dependent reaction []. It acts as a transcription regulator. It exhibits strong binding specificity to the enhancer element B of the flounder antifreeze protein gene intron []. It binds to 5'-phosphorylated single-stranded guanine-rich DNA sequence related to the immunoglobulin mu chain switch region. It preferentially binds to the 5'-GGGCT-3' motif. It also interacts with tRNA-Tyr []. In human, defects in IGHMBP2 are the cause of distal hereditary motor neuronopathy type 6 (HMN6); also known as spinal muscular atrophy distal autosomal recessive 1 (DSMA1) or spinal muscular atrophy with respiratory distress 1 (SMARD1) [].Hcs1 may be involved in DNA replication [].
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Strain
MGI:3785256 | B6.Cg-Ighmbp2<nmd-2J> Tg(Ttn-Ighmbp2)108Cx/Cx
Attribute String: transgenic, targeted mutation, congenic
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Strain
MGI:3785255 | B6.Cg-Ighmbp2<nmd-2J> Tg(Ttn-Ighmbp2)45Cx/Cx
Attribute String: congenic, targeted mutation, transgenic
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Strain
MGI:2174558 | B6.Cg-Tg(Eno2-Ighmbp2)90Cx Ighmbp2<nmd-2J>/Cx
Attribute String: transgenic
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Strain
MGI:2174557 | B6.Cg-Tg(Eno2-Ighmpb2)17Cx Ighmbp2<nmd-2J>/Cx
Attribute String: mutant strain, transgenic, spontaneous mutation, congenic
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Genotype
Genotype
Symbol: Ighmbp2/Ighmbp2 Tg(Eno2-Ighmbp2)17Cx/?
Background: involves: C57BL/6J * C57BLKS/J
Zygosity: cx
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Ighmbp2/Ighmbp2 Tg(Ttn-Ighmbp2)45Cx/?
Background: involves: C57BL/6J * C57BLKS/J
Zygosity: cx
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Ighmbp2/Ighmbp2 Tg(Ttn-Ighmbp2)108Cx/?
Background: involves: C57BL/6J * C57BLKS/J
Zygosity: cx
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Ighmbp2/Ighmbp2 Tg(Eno2-Ighmbp2)90Cx/?
Background: involves: C57BL/6J * C57BLKS/J
Zygosity: cx
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Ighmbp2/Ighmbp2 Tg(Eno2-Ighmbp2)17Cx/? Tg(Ttn-Ighmbp2)108Cx/?
Background: involves: C57BL/6J * C57BLKS/J
Zygosity: cx
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Ighmbp2/Ighmbp2 Tg(Eno2-Ighmbp2)17Cx/? Tg(Ttn-Ighmbp2)45Cx/?
Background: involves: C57BL/6J * C57BLKS/J
Zygosity: cx
Has Mutant Allele: true
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Protein
D3Z5P5
Organism: Mus musculus/domesticus
Length: 885  
Fragment?: false
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Protein
A0A0B4J1E3
Organism: Mus musculus/domesticus
Length: 993  
Fragment?: false
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