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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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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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