FB2026_02 , released June 18, 2026
Human Disease Model Report: Usher syndrome, deafness, MYO7A-related
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General Information
Name
Usher syndrome, deafness, MYO7A-related
FlyBase ID
FBhh0000472
Disease Ontology Term
Parent Disease
OMIM
Overview

This report covers models in flies for the related diseases associated with the human gene Myosin VIIA (MYO7A). These diseases include Usher syndrome, type I (MIM:276900, FBhh0000469), deafness, autosomal dominant 11 (MIM:601317, FBhh0000470) and deafness, autosomal recessive 2 (MIM:600060, FBhh0000471). MYO7A encodes an unconventional myosin involved in intracellular transport and vesicle trafficking. There are two orthologous genes in Drosophila, ck, for which classical amorphic and hypomorphic alleles, RNAi-targeting constructs, and alleles caused by insertional mutagenesis have been generated, and Myo28B1, for which RNAi-targeting constructs and alleles caused by insertional mutagenesis are available. There is an additional paralogous gene in human, MYO7B.

The human MYO7A gene has not been introduced into flies.

Only the higher-scoring MYO7A ortholog in flies, ck, has been genetically characterized. Animals homozygous for amorphic alleles of ck are lethal during embryonic or larval stages. For several alleles that allow survival to adulthood, auditory transduction (assayed in the antenna) is impaired and the Johnston's organ (the auditory organ in the antenna) is morphologically abnormal. Genetic and physical interactions of Dmel\ck have been described; see below and in the gene report for ck.

[updated Jan. 2017 by FlyBase; FBrf0222196]

Disease Summary Information
Disease Summary: Usher syndrome, deafness, MYO7A-related
OMIM report
Human gene(s) implicated
Symptoms and phenotype
Genetics
Cellular phenotype and pathology
Molecular information

Myosins are actin-based motor molecules with ATPase activity; unconventional myosins serve in intracellular transport. Their highly divergent tails bind to membranous compartments, which are then moved relative to actin filaments. [from Gene cards, MYO7A; 2017.01.09]

The MYO7A gene encodes a protein classified as an unconventional myosin. Unconventional myosins are motor molecules with structurally conserved heads that move along actin filaments. Their highly divergent tails are presumed to be tethered to different macromolecular structures that move relative to actin filaments, thus enabling them to transport cargo (Weil et al., 1995; pubmed:7870171). [from MIM:276903; 2017.01.09]

External links
Disease synonyms
Ortholog Information
Human gene(s) in FlyBase
    Human gene (HGNC)
    Symbol / Name
    D. melanogaster ortholog (based on DIOPT)
    Comments on ortholog(s)

    Many to many: 2 human to 2 Drosophila; the other human gene is MYO7B.

    Other mammalian ortholog(s) used
      D. melanogaster Gene Information (1)
      Gene Snapshot
      crinkled (ck) encodes a myosin VIIa homolog that is expected to have roles in cellular protrusion formation and cargo intracellular transport. ck hypomorphs are hearing defective and present abnormal chaetae and trichomes. [Date last reviewed: 2018-09-06]
      Gene Groups / Pathways
      Comments on ortholog(s)

      Moderate- to high-scoring ortholog of human MYO7A and MYO7B (2 Drosophila to 2 human). Dmel\ck shares 59% identity and 75% similarity with MYO7A; it shares 46% identity and 64% similarity with MYO7B.

      Orthologs and Alignments from DRSC
      DIOPT - DRSC Integrative Ortholog Prediction Tool - Click the link below to search for orthologs in Humans
      Other Genes Used: Viral, Bacterial, Synthetic (0)
        Summary of Physical Interactions (11 groups)
        RNA-RNA
        Interacting group
        Assay
        References
        fluorescence technology
        fluorescence technology
        fluorescence technology
        protein-protein
        Interacting group
        Assay
        References
        anti tag coimmunoprecipitation, western blot, anti tag western blot
        anti tag coimmunoprecipitation, anti tag western blot
        bio-layer interferometry, two hybrid, pull down, western blot
        anti tag coimmunoprecipitation, peptide massfingerprinting
        anti tag coimmunoprecipitation, western blot, anti bait coimmunoprecipitation
        anti tag coimmunoprecipitation, anti tag western blot
        anti tag coimmunoprecipitation, anti tag western blot
        anti tag coimmunoprecipitation, western blot
        Alleles Reported to Model Human Disease (Disease Ontology) (2 alleles)
        Models Based on Experimental Evidence ( 2 )
        Modifiers Based on Experimental Evidence ( 0 )
        Allele
        Disease
        Interaction
        References
        Alleles Representing Disease-Implicated Variants
        Genetic Tools, Stocks and Reagents
        Sources of Stocks
        Contact lab of origin for a reagent not available from a public stock center.
        Bloomington Stock Center Disease Page
        Related mammalian, viral, bacterial, or synthetic transgenes
        Allele
        Transgene
        Publicly Available Stocks
        Selected Drosophila transgenes
        Allele
        Transgene
        Publicly Available Stocks
        RNAi constructs available
        Allele
        Transgene
        Publicly Available Stocks
        Selected Drosophila classical alleles
        Allele
        Allele class
        Mutagen
        Publicly Available Stocks
        amorphic allele - molecular evidence
        ethyl methanesulfonate
        References (10)