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ZIRC
ZFIN ID: ZDB-GENE-070501-1
Gene Name: dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
Gene Symbol: dysf
Sequence Ontology ID : SO:0000704

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Previous Names: si:rp71-50c18.1, wu:fb73b05

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(Including Attributions)
Location: Chr: 7 Mapping Details/Browsers
Nomenclature History
AUTOMATED DESCRIPTION
Involved in T-tubule organization; muscle organ morphogenesis; and plasma membrane repair. Localizes to the T-tubule. Human ortholog(s) of this gene implicated in Miyoshi muscular dystrophy 1;  ...
GENE EXPRESSION
All Expression Data: 4 figures from 3 publications
Wild-type Stages, Structures: Segmentation:1-4 somites (10.33h-11.66h) to Adult (90d-730d, breeding adult)
 
Curated Microarray Expression: GEO (1)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
ka86 Small Deletion Exon 37 Unknown CRISPR
  • European Zebrafish Resource Center (EZRC) (order this)
  • ka87 Unknown Unknown Unknown CRISPR
  • European Zebrafish Resource Center (EZRC) (order this)
  • ka88 Unknown Unknown Unknown CRISPR
  • European Zebrafish Resource Center (EZRC) (order this)
  • ka89 Unknown Unknown Unknown CRISPR
  • European Zebrafish Resource Center (EZRC) (order this)
  • la025913Tg Transgenic Insertion Unknown Unknown DNA
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa11331 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa17832 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa20934 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa26952 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa30886 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa40887 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa40888 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • Targeting reagents:
    DISEASE ASSOCIATED WITH dysf HUMAN ORTHOLOG
    Disease Ontology Term OMIM Term OMIM Phenotype ID
    autosomal recessive limb-girdle muscular dystrophy type 2B Muscular dystrophy, limb-girdle, autosomal recessive 2 253601
    distal muscular dystrophy with anterior tibial onset Myopathy, distal, with anterior tibial onset 606768
    Miyoshi muscular dystrophy 1 Miyoshi muscular dystrophy 1 254130
    DISEASE ASSOCIATED WITH dysf VIA EXPERIMENTAL MODELS No data available
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process muscle organ morphogenesis (more)
    Cellular Component sarcolemma (more)
    GO Terms (all 7)
    TRANSCRIPTS
    Type Name Length (bp) Analysis
    ncRNA dysf-003 (1) 6622
    mRNA dysf-201 (1) 9223
    dysf-202 (1) 9146
     Withdrawn Transcriptsextinct
    GENE PRODUCT DESCRIPTION No description available
    INTERACTIONS AND PATHWAYS
    ANTIBODIES
    PLASMIDSNo data available
    CONSTRUCTS WITH SEQUENCES FROM dysf No data available
    MARKER RELATIONSHIPS
    dysfContained in: [BAC] DKEYP-78E10, RP71-50C18 (order this)
    dysfEncodes: [EST] fb73b05
    SEQUENCE INFORMATION
    Type Accession # Length (bp/aa) Analysis
    RNA RefSeq:NM_001257193 (1) 6622bp
    Genomic GenBank:CR847843 (1) 162935bp
    Select Tool
    Polypeptide UniProtKB:E7F4H1 (1) 2097aa
    Sequence Clusters UniGene:11738 (1)
    Sequence Information (all 34)
    ORTHOLOGY for dysf (Chr: 7)
    CITATIONS (25)