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Search results 201 to 289 out of 289 for Fktn

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Type Details Score
GXD Expression
GXD Expression
   
Probe: MGI:3795160
Assay Type: RNA in situ
Annotation Date: 2008-06-26
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1757720
Pattern: Not Specified
Stage: TS20
Assay Id: MGI:3795152
Age: embryonic day 12.5
Specimen Label: 4D
Detected: true
Specimen Num: 4
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GXD Expression
GXD Expression
   
Probe: MGI:3795160
Assay Type: RNA in situ
Annotation Date: 2008-06-26
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1757723
Pattern: Not Specified
Stage: TS23
Assay Id: MGI:3795152
Age: embryonic day 15.0
Specimen Label: 4F
Detected: true
Specimen Num: 6
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GXD Expression
GXD Expression
Probe: MGI:4885991
Assay Type: RNA in situ
Annotation Date: 2011-04-11
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1757723
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4945493
Age: embryonic day 15.5
Image: g01017 E15.5
Note: Expression was region specific and scattered.
Specimen Label: g01017 E15.5
Detected: true
Specimen Num: 2
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GXD Expression
GXD Expression
 
Probe: MGI:4885991
Assay Type: RNA in situ
Annotation Date: 2011-04-11
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1757728
Pattern: Widespread
Stage: TS28
Assay Id: MGI:4945493
Age: postnatal day 7
Image: g01017 P7
Specimen Label: g01017 P7
Detected: true
Specimen Num: 3
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GXD Expression
GXD Expression
Probe: MGI:4885991
Assay Type: RNA in situ
Annotation Date: 2011-04-11
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1757728
Pattern: Regionally restricted
Stage: TS28
Assay Id: MGI:4945493
Age: postnatal day 42
Image: g01017 Adult
Note: Expression was region specific and scattered.
Specimen Label: g01017 Adult
Detected: true
Specimen Num: 4
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GXD Expression
GXD Expression
 
Probe: MGI:6473514
Assay Type: Immunohistochemistry
Annotation Date: 2020-11-23
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1757724
Pattern: Regionally restricted
Stage: TS24
Assay Id: MGI:6473521
Age: embryonic day 16.0
Note: Expression was detected in the anterior horn cells.
Specimen Label: not shown
Detected: true
Specimen Num: 7
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GXD Expression
GXD Expression
   
Probe: MGI:3795160
Assay Type: RNA in situ
Annotation Date: 2008-06-26
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1689420
Pattern: Not Specified
Stage: TS20
Assay Id: MGI:3795152
Age: embryonic day 12.5
Specimen Label: 4C
Detected: true
Specimen Num: 3
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GXD Expression
GXD Expression
   
Probe: MGI:3795160
Assay Type: RNA in situ
Annotation Date: 2008-06-26
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1689421
Pattern: Not Specified
Stage: TS21
Assay Id: MGI:3795152
Age: embryonic day 13.5
Specimen Label: 4E
Detected: true
Specimen Num: 5
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GXD Expression
GXD Expression
 
Probe: MGI:1629748
Assay Type: RNA in situ
Annotation Date: 2019-07-24
Strength: Strong
Sex: Not Specified
Emaps: EMAPS:3521725
Pattern: Not Specified
Stage: TS25
Assay Id: MGI:6324626
Age: embryonic day 17.0
Note: Expression is in proliferating granule cell precursors.
Specimen Label: 1B
Detected: true
Specimen Num: 1
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GXD Expression
GXD Expression
   
Probe: MGI:5001274
Assay Type: RNA in situ
Annotation Date: 2014-02-07
Strength: Ambiguous
Sex: Female
Emaps: EMAPS:1796220
Pattern: Not Specified
Stage: TS20
Assay Id: MGI:5541829
Age: embryonic day 12.5
Image: GUDMAP:8123
Specimen Label: GUDMAP:8123
Specimen Num: 4
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GXD Expression
GXD Expression
 
Probe: MGI:6473514
Assay Type: Immunohistochemistry
Annotation Date: 2020-11-23
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3671224
Pattern: Not Specified
Stage: TS24
Assay Id: MGI:6473521
Age: embryonic day 16.0
Note: The leptomeninges and the pial-glial border were immunopositive.
Specimen Label: 1C
Detected: true
Specimen Num: 2
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Publication
- | J:76444
   
First Author: Horie M
Year: 2002
Journal: GenBank Submission
Title: Mus musculus mRNA for Fukutin, complete cds, strain: C57BL/6
Pages: AB077383
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Publication
23562821 | J:198535
First Author: Kanagawa M
Year: 2013
Journal: Hum Mol Genet
Title: Impaired viability of muscle precursor cells in muscular dystrophy with glycosylation defects and amelioration of its severe phenotype by limited gene expression.
Volume: 22
Issue: 15
Pages: 3003-15
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Publication
17376776 | J:122564
First Author: Yong W
Year: 2007
Journal: J Biol Chem
Title: Mice lacking protein phosphatase 5 are defective in ataxia telangiectasia mutated (ATM)-mediated cell cycle arrest.
Volume: 282
Issue: 20
Pages: 14690-4
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Publication
27496765 | J:348635
First Author: Inamori KI
Year: 2016
Journal: Glycobiology
Title: LARGE2-dependent glycosylation confers laminin-binding ability on proteoglycans.
Volume: 26
Issue: 12
Pages: 1284-1296
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Publication
25661440 | J:250188
 
First Author: Ohtsuka Y
Year: 2015
Journal: Sci Rep
Title: Fukutin is prerequisite to ameliorate muscular dystrophic phenotype by myofiber-selective LARGE expression.
Volume: 5
Pages: 8316
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Publication
25198651 | J:221523
First Author: Kanagawa M
Year: 2014
Journal: PLoS One
Title: Contribution of dysferlin deficiency to skeletal muscle pathology in asymptomatic and severe dystroglycanopathy models: generation of a new model for Fukuyama congenital muscular dystrophy.
Volume: 9
Issue: 9
Pages: e106721
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Publication
20944549 | J:186889
First Author: Kojima K
Year: 2011
Journal: Kidney Int
Title: Defective glycosylation of α-dystroglycan contributes to podocyte flattening.
Volume: 79
Issue: 3
Pages: 311-6
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Publication
15351499 | J:93079
First Author: Ohtsuka-Tsurumi E
Year: 2004
Journal: Brain Res Dev Brain Res
Title: Co-localization of fukutin and alpha-dystroglycan in the mouse central nervous system.
Volume: 152
Issue: 2
Pages: 121-7
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Publication
24722207 | J:213615
First Author: Saito F
Year: 2014
Journal: Hum Mol Genet
Title: Overexpression of LARGE suppresses muscle regeneration via down-regulation of insulin-like growth factor 1 and aggravates muscular dystrophy in mice.
Volume: 23
Issue: 17
Pages: 4543-58
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Publication
29360985 | J:258733
First Author: Sudo A
Year: 2018
Journal: Hum Mol Genet
Title: Temporal requirement of dystroglycan glycosylation during brain development and rescue of severe cortical dysplasia via gene delivery in the fetal stage.
Volume: 27
Issue: 7
Pages: 1174-1185
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Publication
24256719 | J:215959
 
First Author: Yagi H
Year: 2013
Journal: Sci Rep
Title: AGO61-dependent GlcNAc modification primes the formation of functional glycans on α-dystroglycan.
Volume: 3
Pages: 3288
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Publication
15837576 | J:97950
First Author: Kurahashi H
Year: 2005
Journal: Neurobiol Dis
Title: Basement membrane fragility underlies embryonic lethality in fukutin-null mice.
Volume: 19
Issue: 1-2
Pages: 208-17
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Publication
32433954 | J:306323
First Author: Ueda Y
Year: 2020
Journal: Cell Rep
Title: Intrauterine Pressures Adjusted by Reichert's Membrane Are Crucial for Early Mouse Morphogenesis.
Volume: 31
Issue: 7
Pages: 107637
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Publication
34127677 | J:307860
First Author: Choquet H
Year: 2021
Journal: Nat Commun
Title: A large multiethnic GWAS meta-analysis of cataract identifies new risk loci and sex-specific effects.
Volume: 12
Issue: 1
Pages: 3595
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Publication
19501082 | J:152865
First Author: Georgas K
Year: 2009
Journal: Dev Biol
Title: Analysis of early nephron patterning reveals a role for distal RV proliferation in fusion to the ureteric tip via a cap mesenchyme-derived connecting segment.
Volume: 332
Issue: 2
Pages: 273-86
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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
- | J:81858
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2003
Title: Data Curation Using Mouse Genome Assembly
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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: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:157065
     
First Author: Helmholtz Zentrum Muenchen GmbH
Year: 2010
Journal: MGI Direct Data Submission
Title: Alleles produced for the EUCOMM and EUCOMMTools projects by the Helmholtz Zentrum Muenchen GmbH (Hmgu)
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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:23000
       
First Author: MGD Nomenclature Committee
Year: 1995
Title: Nomenclature Committee Use
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Publication
14610273 | J:86696
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
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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:326541
       
First Author: Cyagen Biosciences Inc.
Year: 2022
Title: Cyagen Biosciences Website.
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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: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
- | 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: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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UniProt Feature
UniProt Feature
Begin: 1
Description: Ribitol-5-phosphate transferase FKTN
Type: chain
End: 461
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Protein
Q8R507
Organism: Mus musculus/domesticus
Length: 461  
Fragment?: false
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Protein
Q8K4R2
Organism: Mus musculus/domesticus
Length: 54  
Fragment?: false
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Publication
29416295 | -
 
First Author: Haro C
Year: 2018
Journal: Mol Vis
Title: Expression in retinal neurons of fukutin and FKRP, the protein products of two dystroglycanopathy-causative genes.
Volume: 24
Pages: 43-58
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DO Term
DOID:0110444 | dilated cardiomyopathy 1X
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Allele
Fktn<tm3(FKTN)Ttd> | MGI:3832562
Name: fukutin; targeted mutation 3, Tatsushi Toda
Allele Type: Targeted
Attribute String: Humanized sequence, Inserted expressed sequence
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Allele
Fktn<tm1Ttd> | MGI:3577652
Name: fukutin; targeted mutation 1, Tatsushi Toda
Allele Type: Targeted
Attribute String: Null/knockout
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Allele
Fktn<tm1Kcam> | MGI:5435571
Name: fukutin; targeted mutation 1, Kevin P Campbell
Allele Type: Targeted
Attribute String: Conditional ready, No functional change
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Genotype
Genotype
Symbol: Fktn/Fktn
Background: Not Specified
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Fktn/Fktn
Background: involves: 129S7/SvEvBrd * C57BL/6
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Fktn/Fktn Tg(CAG-cre/Esr1*)5Amc/?
Background: involves: 129S/SvEv * C57BL/6 * CBA
Zygosity: cn
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Fktn/Fktn Tg(Ckmm-cre)5Khn/?
Background: involves: 129S/SvEv * FVB
Zygosity: cn
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Fktn/Fktn Myf5/Myf5<+>
Background: involves: 129S/SvEv * 129S4/SvJaeSor
Zygosity: cn
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Dysf/Dysf Fktn/Fktn
Background: involves: 129S7/SvEvBrd * C57BL/6 * SJL/J
Zygosity: cx
Has Mutant Allele: true
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DO Term
DOID:0050559 | Fukuyama congenital muscular dystrophy
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DO Term
DOID:0112379 | muscular dystrophy-dystroglycanopathy type B4
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Publication
9023541 | -
First Author: Odani T
Year: 1996
Journal: Glycobiology
Title: Cloning and analysis of the MNN4 gene required for phosphorylation of N-linked oligosaccharides in Saccharomyces cerevisiae.
Volume: 6
Issue: 8
Pages: 805-10
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Publication
9459307 | -
First Author: Odani T
Year: 1997
Journal: FEBS Lett
Title: Mannosylphosphate transfer to cell wall mannan is regulated by the transcriptional level of the MNN4 gene in Saccharomyces cerevisiae.
Volume: 420
Issue: 2-3
Pages: 186-90
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Protein Domain
IPR009644 | FKTN-related
Type: Family
Description: Ribitol-5-phosphate transferase FKTN is a eukaryotic protein necessary for the maintenance of muscle integrity, cortical histiogenesis, and normal ocular development. Mutations in the fukutin gene have been shown to result in Fukuyama-type congenital muscular dystrophy characterised by brain malformation - one of the most common autosomal-recessive disorders in Japan []. FKTN participates in glycosylation of alpha-dystroglycan/DAG1 [, , ].This entry also include the Protein MNN4 from budding yeast. It may function as a positive regulator for mannosylphosphate transferase [, ].
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Protein
A0A1Y7VM91
Organism: Mus musculus/domesticus
Length: 500  
Fragment?: false
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Publication
29477842 | -
First Author: Nishihara R
Year: 2018
Journal: Biochem Biophys Res Commun
Title: Cell endogenous activities of fukutin and FKRP coexist with the ribitol xylosyltransferase, TMEM5.
Volume: 497
Issue: 4
Pages: 1025-1030
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Genotype
Genotype
Symbol: Fktn/Fktn
Background: involves: 129S7/SvEvBrd
Zygosity: ht
Has Mutant Allele: true
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Protein Domain
IPR045587 | FKTN_N
Type: Domain
Description: This is the N-terminal domain of Ribitol-5-phosphate transferase FKTN (also referred to fukutin) which contains the transmembrane domain required for its localisation to the Golgi and participates in the interaction with POMGnT1 (Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1) for normal POMGnT1 location and activity []. FKTN is a ribitol-phosphate transferase that forms a complex with FKRP (fukutin-related protein, also a ribitol-phosphate transferase) and TMEM5 (a ribitol xylosyltransferase). Fukutin, FKRP, and TMEM5 maintain each of their enzyme activities in the complex and may contribute to specificbiosynthesis of glycans required for dystroglycan function [].
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Protein
Q3UMQ5
Organism: Mus musculus/domesticus
Length: 385  
Fragment?: false
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Publication
11445638 | -
First Author: Hayashi YK
Year: 2001
Journal: Neurology
Title: Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy.
Volume: 57
Issue: 1
Pages: 115-21
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Protein
Q8CG64
Organism: Mus musculus/domesticus
Length: 494  
Fragment?: false
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Protein
Q3TM90
Organism: Mus musculus/domesticus
Length: 494  
Fragment?: false
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Protein
Q3THE8
Organism: Mus musculus/domesticus
Length: 494  
Fragment?: false
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Publication
10200966 | -
First Author: Zhang JR
Year: 1999
Journal: Mol Microbiol
Title: Pneumococcal licD2 gene is involved in phosphorylcholine metabolism.
Volume: 31
Issue: 5
Pages: 1477-88
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Publication
31949166 | -
First Author: Kuwabara N
Year: 2020
Journal: Nat Commun
Title: Crystal structures of fukutin-related protein (FKRP), a ribitol-phosphate transferase related to muscular dystrophy.
Volume: 11
Issue: 1
Pages: 303
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Protein Domain
IPR007074 | LicD_fam
Type: Family
Description: The LicD family of proteins show high sequence similarity and are involved in phosphorylcholine metabolism. There is evidence to show that LicD2 mutants have a reduced ability to take up choline, have decreased ability to adhere to host cells and are less virulent []. These proteins are part of the nucleotidyltransferase superfamily [].Ribitol-5-phosphate transferase FKTN (also known as Fukutin), which is a member of the LicD family, is a mammal protein which may be involved in the modification of glycan moieties of alpha-dystroglycan; defects in Fukutin are associated with congential muscular dystrophy [, ]. Ribitol 5-phosphate transferase FKRP (also known as Fukutin-related protein), responsible for the the second step in the formation of the ribose 5-phosphate tandem repeat after FKTN activity [, ], has N-terminal stem and C-terminal catalytic domains, and adopts a tetramer assembly [].
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Publication
33529666 | J:308180
 
First Author: Xu F
Year: 2021
Journal: Int J Cardiol
Title: Characterizing modifier genes of cardiac fibrosis phenotype in hypertrophic cardiomyopathy.
Volume: 330
Pages: 135-141
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Publication
19833706 | -
First Author: Kuchta K
Year: 2009
Journal: Nucleic Acids Res
Title: Comprehensive classification of nucleotidyltransferase fold proteins: identification of novel families and their representatives in human.
Volume: 37
Issue: 22
Pages: 7701-14
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Publication
30233323 | J:268810
 
First Author: Wang T
Year: 2018
Journal: Front Cell Neurosci
Title: Alterations of GABAergic Neuron-Associated Extracellular Matrix and Synaptic Responses in Gad1-Heterozygous Mice Subjected to Prenatal Stress.
Volume: 12
Pages: 284
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Publication
15489334 | -
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
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Publication
19468303 | -
First Author: Church DM
Year: 2009
Journal: PLoS Biol
Title: Lineage-specific biology revealed by a finished genome assembly of the mouse.
Volume: 7
Issue: 5
Pages: e1000112
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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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