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Large Gene Detail
 Symbol
Name
ID
Large
like-glycosyltransferase
MGI:1342270


Nomenclature History
Synonyms BPFD#36, enr, fg, froggy, mKIAA0609
Genetic Map
Chromosome 8
34.0 cM, cytoband C1
Detailed Genetic Map ± 1 cM
 
Mapping data( 17)

Sequence Map
Chr8:75338498-75877439 bp, - strand
(From VEGA annotation of NCBI Build 37)
VEGA ContigView | Ensembl ContigView | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser
Mammalian
homology
human; chimpanzee; cattle; dog, domestic; rat    (Mammalian Orthology)
Comparative Map (Mouse/Human Large ± 2 cM)
TreeFam: TF319168
Sequences
Representative Sequences Length Strain/Species Flank
genomic OTTMUSG00000030306 VEGA Gene Model | MGI Sequence Detail 538942 C57BL/6J ± Kb
transcript NM_010687 RefSeq | MGI Sequence Detail 3669 -
polypeptide Q9Z1M7 UniProt | EBI | MGI Sequence Detail 756 Not Applicable
For the selected sequences
All sequences(27)
Alleles
and
phenotypes
All alleles(7) : Gene trapped(4) Transgenic(1) Spontaneous(2)
Homozygotes exhibit a progressive myopathy, abnormal posture, thoracic kyphosis, calcium deposits in muscle, loss of Schwann cells and myelin, eye and CNS defects, deafness, reduced growth, and death around 4 months.
Associated Human Diseases (2)   Alleles Annotated to Human Diseases (2)  
Polymorphisms SNPs within 2kb(1641 from dbSNP Build 128)  
Gene Ontology
(GO)
classifications
All GO classifications(7)
Process glycoprotein biosynthetic process, muscle homeostasis...
Component Golgi apparatus, integral to membrane...
Function transferase activity, transferase activity, transferring glycosyl groups...
External Resources: MouseFunc
Expression Literature Summary: (4 records)
Data Summary: Assays (1)    Results (6)    Tissues (5)    Images (3)
Theiler Stages: 28
  Assay Type Assays   Results
      RNA in situ 1   6
cDNA source data(66)
External Resources: Allen Brain Atlas  GENSAT  GEO 
Molecular
reagents
All nucleic(73) Genomic(3) cDNA(69) Other(1)
Microarray probesets(3)
Other database
links
Ensembl Gene Model ENSMUSG00000004383
DoTS DT.481431, DT.91330323, DT.94138642, DT.94295107
UniGene 324371
DFCI TC1578304, TC1612245, TC1770883
NIA Mouse Gene Index U043860
Entrez Gene 16795
VEGA Gene Model OTTMUSG00000030306
International Mouse Knockout Project Status Large
Protein
domains
InterPro ID Description
IPR002495 Glycosyl transferase, family 8
Graphical View of Protein Domain Structure
References
(Earliest) J:64437 Lane PW, "Froggy (fg) renamed myd - myodystrophy" Mouse News Lett 1969;40():30
(Latest) J:152269 Groh S et al., "Sarcoglycan complex: implications for metabolic defects in muscular dystrophies." J Biol Chem 2009 Jul 17;284(29):19178-82
All references(44)
Other
accession IDs
MGD-MRK-12127, MGD-MRK-12128, MGD-MRK-12737, MGD-MRK-9759, MGI:1196289, MGI:96926, MGI:97251

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
11/20/2009
MGI_4.31
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The Jackson Laboratory