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Search results 101 to 200 out of 200 for Gnptab

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0.045s
Type Details Score
GXD Expression      
Probe: MGI:4428880
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1684622
Stage: TS22
Assay Id: MGI:5422706
Age: embryonic day 14.5
Specimen Label: EN2704; Specimen N1079
Detected: false
Specimen Num: 1
GXD Expression    
Probe: MGI:4428880
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:3272922
Stage: TS22
Assay Id: MGI:5422706
Age: embryonic day 14.5
Note: Expression was not detected in the skeleton (limbs, shoulder, hip).
Specimen Label: EN2704; Specimen N1079
Detected: false
Specimen Num: 1
GXD Expression      
Probe: MGI:4428880
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1752422
Stage: TS22
Assay Id: MGI:5422706
Age: embryonic day 14.5
Specimen Label: EN2704; Specimen N1079
Detected: false
Specimen Num: 1
GXD Expression      
Probe: MGI:4428880
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:3267322
Stage: TS22
Assay Id: MGI:5422706
Age: embryonic day 14.5
Specimen Label: EN2704; Specimen N1079
Detected: false
Specimen Num: 1
GXD Expression      
Probe: MGI:4428880
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1718522
Stage: TS22
Assay Id: MGI:5422706
Age: embryonic day 14.5
Specimen Label: EN2704; Specimen N1079
Detected: false
Specimen Num: 1
GXD Expression      
Probe: MGI:4428880
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:3283722
Stage: TS22
Assay Id: MGI:5422706
Age: embryonic day 14.5
Specimen Label: EN2704; Specimen N1079
Detected: false
Specimen Num: 1
GXD Expression    
Probe: MGI:4428880
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1842522
Stage: TS22
Assay Id: MGI:5422706
Age: embryonic day 14.5
Note: Expression was not detected in the endocrine system.
Specimen Label: EN2704; Specimen N1079
Detected: false
Specimen Num: 1
GXD Expression      
Probe: MGI:4428880
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1781522
Stage: TS22
Assay Id: MGI:5422706
Age: embryonic day 14.5
Specimen Label: EN2704; Specimen N1079
Detected: false
Specimen Num: 1
GXD Expression      
Probe: MGI:4428880
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1759722
Stage: TS22
Assay Id: MGI:5422706
Age: embryonic day 14.5
Specimen Label: EN2704; Specimen N1079
Detected: false
Specimen Num: 1
GXD Expression      
Probe: MGI:4428880
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1672722
Stage: TS22
Assay Id: MGI:5422706
Age: embryonic day 14.5
Specimen Label: EN2704; Specimen N1079
Detected: false
Specimen Num: 1
GXD Expression      
Probe: MGI:4428880
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1750322
Stage: TS22
Assay Id: MGI:5422706
Age: embryonic day 14.5
Specimen Label: EN2704; Specimen N1079
Detected: false
Specimen Num: 1
GXD Expression      
Probe: MGI:4428880
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1775122
Stage: TS22
Assay Id: MGI:5422706
Age: embryonic day 14.5
Specimen Label: EN2704; Specimen N1079
Detected: false
Specimen Num: 1
GXD Expression      
Probe: MGI:4428880
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:3274122
Stage: TS22
Assay Id: MGI:5422706
Age: embryonic day 14.5
Specimen Label: EN2704; Specimen N1079
Detected: false
Specimen Num: 1
GXD Expression      
Probe: MGI:4428880
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:3287422
Stage: TS22
Assay Id: MGI:5422706
Age: embryonic day 14.5
Specimen Label: EN2704; Specimen N1079
Detected: false
Specimen Num: 1
GXD Expression      
Probe: MGI:4428880
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:3266022
Stage: TS22
Assay Id: MGI:5422706
Age: embryonic day 14.5
Specimen Label: EN2704; Specimen N1079
Detected: false
Specimen Num: 1
GXD Expression    
Probe: MGI:4428880
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1624622
Stage: TS22
Assay Id: MGI:5422706
Age: embryonic day 14.5
Note: Expression was not detected in the digestive system.
Specimen Label: EN2704; Specimen N1079
Detected: false
Specimen Num: 1
GXD Expression      
Probe: MGI:4428880
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1721422
Stage: TS22
Assay Id: MGI:5422706
Age: embryonic day 14.5
Specimen Label: EN2704; Specimen N1079
Detected: false
Specimen Num: 1
GXD Expression      
Probe: MGI:4428880
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1646922
Stage: TS22
Assay Id: MGI:5422706
Age: embryonic day 14.5
Specimen Label: EN2704; Specimen N1079
Detected: false
Specimen Num: 1
GXD Expression      
Probe: MGI:4428880
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1736222
Stage: TS22
Assay Id: MGI:5422706
Age: embryonic day 14.5
Specimen Label: EN2704; Specimen N1079
Detected: false
Specimen Num: 1
GXD Expression      
Probe: MGI:4428880
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1683322
Stage: TS22
Assay Id: MGI:5422706
Age: embryonic day 14.5
Specimen Label: EN2704; Specimen N1079
Detected: false
Specimen Num: 1
GXD Expression      
Probe: MGI:4428880
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1700022
Stage: TS22
Assay Id: MGI:5422706
Age: embryonic day 14.5
Specimen Label: EN2704; Specimen N1079
Detected: false
Specimen Num: 1
GXD Expression      
Probe: MGI:4428880
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1832122
Stage: TS22
Assay Id: MGI:5422706
Age: embryonic day 14.5
Specimen Label: EN2704; Specimen N1079
Detected: false
Specimen Num: 1
GXD Expression    
Probe: MGI:4428880
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1876522
Stage: TS22
Assay Id: MGI:5422706
Age: embryonic day 14.5
Note: Expression was not detected in the immune system.
Specimen Label: EN2704; Specimen N1079
Detected: false
Specimen Num: 1
GXD Expression      
Probe: MGI:4428880
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1741222
Stage: TS22
Assay Id: MGI:5422706
Age: embryonic day 14.5
Specimen Label: EN2704; Specimen N1079
Detected: false
Specimen Num: 1
GXD Expression      
Probe: MGI:4428880
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1754022
Stage: TS22
Assay Id: MGI:5422706
Age: embryonic day 14.5
Specimen Label: EN2704; Specimen N1079
Detected: false
Specimen Num: 1
GXD Expression      
Probe: MGI:4428880
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:3599822
Stage: TS22
Assay Id: MGI:5422706
Age: embryonic day 14.5
Specimen Label: EN2704; Specimen N1079
Detected: false
Specimen Num: 1
GXD Expression      
Probe: MGI:4428880
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:3280922
Stage: TS22
Assay Id: MGI:5422706
Age: embryonic day 14.5
Specimen Label: EN2704; Specimen N1079
Detected: false
Specimen Num: 1
GXD Expression      
Probe: MGI:4428880
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1833322
Stage: TS22
Assay Id: MGI:5422706
Age: embryonic day 14.5
Specimen Label: EN2704; Specimen N1079
Detected: false
Specimen Num: 1
GXD Expression      
Probe: MGI:4428880
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:3287022
Stage: TS22
Assay Id: MGI:5422706
Age: embryonic day 14.5
Specimen Label: EN2704; Specimen N1079
Detected: false
Specimen Num: 1
GXD Expression      
Probe: MGI:4428880
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1752522
Stage: TS22
Assay Id: MGI:5422706
Age: embryonic day 14.5
Specimen Label: EN2704; Specimen N1079
Detected: false
Specimen Num: 1
GXD Expression      
Probe: MGI:4428880
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1821522
Stage: TS22
Assay Id: MGI:5422706
Age: embryonic day 14.5
Specimen Label: EN2704; Specimen N1079
Detected: false
Specimen Num: 1
GXD Expression      
Probe: MGI:4428880
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:3557722
Stage: TS22
Assay Id: MGI:5422706
Age: embryonic day 14.5
Specimen Label: EN2704; Specimen N1079
Detected: false
Specimen Num: 1
GXD Expression      
Probe: MGI:4428880
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1702122
Stage: TS22
Assay Id: MGI:5422706
Age: embryonic day 14.5
Specimen Label: EN2704; Specimen N1079
Detected: false
Specimen Num: 1
GXD Expression      
Probe: MGI:4428880
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1756322
Stage: TS22
Assay Id: MGI:5422706
Age: embryonic day 14.5
Specimen Label: EN2704; Specimen N1079
Detected: false
Specimen Num: 1
GXD Expression      
Probe: MGI:4428880
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1668822
Stage: TS22
Assay Id: MGI:5422706
Age: embryonic day 14.5
Specimen Label: EN2704; Specimen N1079
Detected: false
Specimen Num: 1
GXD Expression      
Probe: MGI:4428880
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1757722
Stage: TS22
Assay Id: MGI:5422706
Age: embryonic day 14.5
Specimen Label: EN2704; Specimen N1079
Detected: false
Specimen Num: 1
GXD Expression      
Probe: MGI:4428880
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1757522
Stage: TS22
Assay Id: MGI:5422706
Age: embryonic day 14.5
Specimen Label: EN2704; Specimen N1079
Detected: false
Specimen Num: 1
GXD Expression      
Probe: MGI:4428880
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1738322
Stage: TS22
Assay Id: MGI:5422706
Age: embryonic day 14.5
Specimen Label: EN2704; Specimen N1079
Detected: false
Specimen Num: 1
GXD Expression      
Probe: MGI:4428880
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1802422
Stage: TS22
Assay Id: MGI:5422706
Age: embryonic day 14.5
Specimen Label: EN2704; Specimen N1079
Detected: false
Specimen Num: 1
GXD Expression    
Probe: MGI:4428880
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1768022
Stage: TS22
Assay Id: MGI:5422706
Age: embryonic day 14.5
Note: Expression was not detected in the skull (base and vault).
Specimen Label: EN2704; Specimen N1079
Detected: false
Specimen Num: 1
GXD Expression    
Probe: MGI:4428880
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:2672022
Stage: TS22
Assay Id: MGI:5422706
Age: embryonic day 14.5
Note: Expression was not detected in whisker follicle.
Specimen Label: EN2704; Specimen N1079
Detected: false
Specimen Num: 1
Publication
First Author: Qian Y
Year: 2010
Journal: J Biol Chem
Title: Functions of the alpha, beta, and gamma subunits of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase.
Volume: 285
Issue: 5
Pages: 3360-70
Publication
First Author: Lee WS
Year: 2007
Journal: J Biol Chem
Title: Murine UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase lacking the gamma-subunit retains substantial activity toward acid hydrolases.
Volume: 282
Issue: 37
Pages: 27198-203
Publication
First Author: Idol RA
Year: 2014
Journal: PLoS One
Title: Neurologic abnormalities in mouse models of the lysosomal storage disorders mucolipidosis II and mucolipidosis III γ.
Volume: 9
Issue: 10
Pages: e109768
Publication
First Author: Vogel P
Year: 2009
Journal: Vet Pathol
Title: Comparative pathology of murine mucolipidosis types II and IIIC.
Volume: 46
Issue: 2
Pages: 313-24
Publication
First Author: Schrader KA
Year: 2011
Journal: J Pathol
Title: Using next-generation sequencing for the diagnosis of rare disorders: a family with retinitis pigmentosa and skeletal abnormalities.
Volume: 225
Issue: 1
Pages: 12-8
Publication
First Author: Westermann LM
Year: 2021
Journal: Sci Rep
Title: Transgenic inhibition of interleukin-6 trans-signaling does not prevent skeletal pathologies in mucolipidosis type II mice.
Volume: 11
Issue: 1
Pages: 3556
Publication
First Author: Cordes SP
Year: 1994
Journal: Cell
Title: The mouse segmentation gene kr encodes a novel basic domain-leucine zipper transcription factor.
Volume: 79
Issue: 6
Pages: 1025-34
Publication
First Author: Boonen M
Year: 2009
Journal: Mol Biol Cell
Title: Mice lacking mannose 6-phosphate uncovering enzyme activity have a milder phenotype than mice deficient for N-acetylglucosamine-1-phosphotransferase activity.
Volume: 20
Issue: 20
Pages: 4381-9
Publication  
First Author: Brommage R
Year: 2014
Journal: Bone Res
Title: High-throughput screening of mouse gene knockouts identifies established and novel skeletal phenotypes.
Volume: 2
Pages: 14034
Publication      
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
Publication  
First Author: Collin GB
Year: 2020
Journal: Cells
Title: Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss.
Volume: 9
Issue: 4
Publication      
First Author: The RIKEN BioResource Center
Year: 2006
Journal: Unpublished
Title: Information obtained from The RIKEN BioResource Center
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: 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
Publication
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
Publication      
First Author: Wellcome Trust Sanger Institute
Year: 2010
Journal: MGI Direct Data Submission
Title: Alleles produced for the EUCOMM and EUCOMMTools projects by the Wellcome Trust Sanger Institute
Publication        
First Author: Cyagen Biosciences Inc.
Year: 2022
Title: Cyagen Biosciences Website.
Publication        
First Author: DDB, FB, MGI, GOA, ZFIN curators
Year: 2001
Title: Gene Ontology annotation through association of InterPro records with GO terms
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: 2003
Title: MGI Sequence Curation Reference
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: MGD Nomenclature Committee
Year: 1995
Title: Nomenclature Committee Use
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: 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: Adams DJ
Year: 2024
Journal: Nature
Title: Genetic determinants of micronucleus formation in vivo.
Volume: 627
Issue: 8002
Pages: 130-136
Publication        
First Author: GemPharmatech
Year: 2020
Title: GemPharmatech Website.
Publication        
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
Publication        
First Author: The Gene Ontology Consortium
Year: 2010
Title: Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs
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
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 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).
Publication        
First Author: Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas
Year: 2010
Title: Annotation inferences using phylogenetic trees
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 Scientific Curators
Year: 2005
Title: Obtaining and loading genome assembly coordinates from NCBI annotations
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: Allen Institute for Brain Science
Year: 2004
Journal: Allen Institute
Title: Allen Brain Atlas: mouse riboprobes
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
Allele
Name: N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits; endonuclease-mediated mutation 1, Shanghai Model Organisms Center
Allele Type: Endonuclease-mediated
Attribute String: Null/knockout
Protein
Organism: Mus musculus/domesticus
Length: 1235  
Fragment?: false
Publication
First Author: Qian Y
Year: 2015
Journal: J Biol Chem
Title: Analysis of mucolipidosis II/III GNPTAB missense mutations identifies domains of UDP-GlcNAc:lysosomal enzyme GlcNAc-1-phosphotransferase involved in catalytic function and lysosomal enzyme recognition.
Volume: 290
Issue: 5
Pages: 3045-56
Strain
Attribute String: coisogenic, endonuclease-mediated mutation, mutant strain
Protein
Organism: Mus musculus/domesticus
Length: 1189  
Fragment?: false
Allele
Name: N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits; Nymphe
Allele Type: Chemically induced (ENU)
Attribute String: Not Specified
Allele
Name: N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits; targeted mutation 1, Katrin Kollmann
Allele Type: Targeted
Attribute String: Humanized sequence
Allele
Name: N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits; gene trap OST97730, Lexicon Genetics
Allele Type: Gene trapped
Attribute String: Null/knockout
Allele
Name: N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits; targeted mutation 1, Dong-Kyu Jin
Allele Type: Targeted
Attribute String: Null/knockout
Genotype
Symbol: Gnptab/Gnptab
Background: involves: 129S5/SvEvBrd * C57BL/6J
Zygosity: hm
Has Mutant Allele: true
Genotype
Symbol: Gnptab/Gnptab
Background: involves: 129 * C57BL/6
Zygosity: hm
Has Mutant Allele: true
Genotype
Symbol: Gnptab/Gnptab
Background: involves: BALB/cAnNHsd * C3H/HeNHsd
Zygosity: hm
Has Mutant Allele: true
Genotype
Symbol: Gnptab/Gnptab
Background: involves: 129 * C57BL/6
Zygosity: hm
Has Mutant Allele: true
DO Term
Publication
First Author: Liu L
Year: 2017
Journal: FEBS Lett
Title: Role of spacer-1 in the maturation and function of GlcNAc-1-phosphotransferase.
Volume: 591
Issue: 1
Pages: 47-55
Protein Domain
Type: Domain
Description: The Golgi enzyme UDP-GlcNAc-lysosomal enzyme N-acetylglucosamine-1-phosphotransferase (GlcNAc-1-phosphotransferase), an alpha2beta2gamma2 hexamer, mediates the initial step in the addition of the mannose 6-phosphate targeting signal on newly synthesized lysosomal enzymes []. GNPTAB encodes the alpha and beta subunits of GlcNAc-1-phosphotransferase, and mutations in this gene cause the lysosomal storage disorders mucolipidosis II and III alpha-beta. The alpha-beta subunits contain three identifiable domains separated by so-called spacer regions. This domain is part of the first spacer region, Spacer-1 []. Studies indicate that GlcNAc-1 lacking spacer-1 exhibits enhanced phosphorylation of several non-lysosomal glycoproteins, while the phosphorylation of lysosomal acid hydrolases is not altered. In view of these effects on the maturation and function of GlcNAc-1, it is suggested to rename 'spacer-1' the 'regulatory-1' domain [].
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