ZFIN ID: ZDB-GENE-091204-466
Gene Name: fibrillin 1
Gene Symbol: fbn1    Nomenclature History

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Previous Name: si:ch73-34a12.4

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 18 Mapping Details/Browsers
Description: Human ortholog(s) of this gene implicated in several diseases, including CREST syndrome; Weill-Marchesani syndrome; aortic disease (multiple); autosomal dominant isolated ectopia lentis 1; and bone disease (multiple). Orthologous to human FBN1 (fibrillin 1).
Genome Resources: Alliance (1),  Ensembl(GRCz11):ENSDARG00000105333 (1)
GENE EXPRESSION No data available
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
sa9112 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • PHENOTYPE No data available
    DISEASE ASSOCIATED WITH fbn1 HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    acromicric dysplasia Alliance Acromicric dysplasia 102370
    autosomal dominant isolated ectopia lentis 1 Alliance Ectopia lentis, familial 129600
    geleophysic dysplasia 2 Alliance Geleophysic dysplasia 2 614185
    Marfan syndrome Alliance Marfan syndrome 154700
    stiff skin syndrome Alliance Stiff skin syndrome 184900
    Weill-Marchesani syndrome Alliance Weill-Marchesani syndrome 2, dominant 608328
    Marfan lipodystrophy syndrome 616914
    MASS syndrome 604308
    DISEASE ASSOCIATED WITH fbn1 VIA EXPERIMENTAL MODELS No data available
    GENE ONTOLOGY No data available
    PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA ottdart00000063143 (1) 3609
    INTERACTIONS AND PATHWAYS
    ANTIBODIES No data available
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM fbn1 No data available
    MARKER RELATIONSHIPS
    fbn1 Contained in: [BAC] CH73-34A12 (1)
    SEQUENCE INFORMATION
    Type Accession # Length (nt/aa) Analysis
    Genomic GenBank:CU498833 (1) 66872 nt
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    ORTHOLOGY for fbn1 ( Chr: 18 )
    CITATIONS (7)