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ZIRC
ZFIN ID: ZDB-GENE-050211-6
Gene Name: structural maintenance of chromosomes flexible hinge domain containing 1
Gene Symbol: smchd1
Sequence Ontology ID : SO:0000704

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(Including Attributions)
Location: Chr: 7 Mapping Details/Browsers
Nomenclature History
AUTOMATED DESCRIPTION
Predicted to have ATP binding activity; involved in embryonic cranial skeleton morphogenesis; predicted to localize to the chromosome; orthologous to human SMCHD1 (structural maintenance of  ...
GENE EXPRESSION
All Expression Data: 4 figures from 2 publications
Wild-type Stages, Structures: Segmentation:5-9 somites (11.66h-14.0h) to Pharyngula:Prim-25 (36.0h-42.0h)
 
Curated Microarray Expression: GEO (1)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
sa18180 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa27111 Point Mutation Unknown Premature Stop ENU
    sa34256 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 smchd1 HUMAN ORTHOLOG
    Disease Ontology Term OMIM Term OMIM Phenotype ID
    facioscapulohumeral muscular dystrophy Fascioscapulohumeral muscular dystrophy 2, digenic 158901
    Bosma arhinia microphthalmia syndrome 603457
    DISEASE ASSOCIATED WITH smchd1 VIA EXPERIMENTAL MODELS
    Human Disease Fish Conditions Citations
    choanal atresia zf195Tg + CRISPR1-smchd1(AB) standard conditions Shaw et al., 2017
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process embryonic cranial skeleton morphogenesis (more)
    Cellular Component chromosome (more)
    Molecular Function ATP binding (more)
    GO Terms (all 5)
    TRANSCRIPTS
    Type Name Length (bp) Analysis
    mRNA smchd1-201 (1) 6420
    GENE PRODUCT DESCRIPTION No description available
    INTERACTIONS AND PATHWAYS
    ANTIBODIESNo data available
    PLASMIDSNo data available
    CONSTRUCTS WITH SEQUENCES FROM smchd1 No data available
    MARKER RELATIONSHIPS
    smchd1Contained in: [BAC] CH73-310J3 (1) (order this)
    SEQUENCE INFORMATION
    Type Accession # Length (bp/aa) Analysis
    RNA RefSeq:XM_009303635 (1)
    Genomic GenBank:FP016237 (1) 90568bp
    Select Tool
    Polypeptide UniProtKB:A0A0G2L6F5 (1) 1983aa
    Sequence Clusters UniGene:115612 (1)
    Sequence Information (all 11)
    ORTHOLOGY for smchd1 (Chr: 7)
    CITATIONS (14)