FB2024_03 , released June 25, 2024
Allele: Dmel\cherQ1042X
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General Information
Symbol
Dmel\cherQ1042X
Species
D. melanogaster
Name
FlyBase ID
FBal0150535
Feature type
allele
Associated gene
Dmel\cher
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

Allele class
Mutagen
    Nature of the Allele
    Allele class
    Mutagen
    Progenitor genotype
    Cytology
    Description

    Amino acid replacement: Q1042term.

    (Sokol and Cooley, 2003)
    Mutations Mapped to the Genome
    Curation Data
    Type
    Location
    Additional Notes
    References
    point_mutation
    3R:17,105,229..17,105,229 [-]
    Nucleotide change:

    C17105229T

    Reported nucleotide change:

    C?T

    Amino acid change:

    Q1042term | cher-PA; Q1231term | cher-PG; Q1072term | cher-PI; Q1231term | cher-PL; Q1261term | cher-PM; Q1236term | cher-PN

    Reported amino acid change:

    Q1042term

    Comment:

    The difference between the annotated and the reported site of the amino acid change is due to the use of a start codon 160aa further 5' in the annotated transcript relative to the published cDNA.

    (Sokol and Cooley, 2003)
    Variant Molecular Consequences
    Associated Sequence Data
    DDBJ / EMBL / GenBank
    DNA sequence
    Protein sequence
     
    UniProtKB/Swiss-Prot
      UniProtKB/TrEMBL
        Expression Data
        Reporter Expression
        Additional Information
        Statement
        Reference
         
        Marker for
        Reflects expression of
        Reporter construct used in assay
        Human Disease Associations
        Disease Ontology (DO) Annotations
        Models Based on Experimental Evidence ( 1 )
        Disease
        Evidence
        References
        model of  myopathy
        CEA
        (González-Morales et al., 2017)
        DOES NOT model  myopathy
        CEA with slsj1D7
        (González-Morales et al., 2017)
        Modifiers Based on Experimental Evidence ( 0 )
        Disease
        Interaction
        References
        Comments on Models/Modifiers Based on Experimental Evidence ( 1 )
         

        cherQ1042X/Df(3R)Exel6176 transheterozygotes model myopathy.

        (González-Morales et al., 2017)
        Disease-implicated variant(s)
         
        Phenotypic Data
        Phenotypic Class
        Phenotype Manifest In
        Detailed Description
        Statement
        Reference

        cherQ1042X/Df(3R)Exel6176 transheterozygotes cannot sustain flight, since high frequency wing beat is only sustained for a few seconds, as compared to wild-type and cherQ1042X heterozygous controls. These mutants exhibit a moderate but significant decrease in the number of recognizable sarcomeres in adult indirect flight muscles, associated with the detection of Z-disc fragments at the H-zone, as compared to wild-type and cherQ1042X heterozygous controls.

        cherQ1042X homozygotes do not exhibit abnormal actin accumulation at the H-zone of adult indirect flight muscle sarcomeres.

        (González-Morales et al., 2017)

        cherQ1042X homozygous embryos display fully penetrant axon pathfinding defects in intersegmental nerve b motor axons likely due to abnormal development of ventrolateral muscles and even heterozygotes display increased frequency of axon guidance defects compared to controls.

        cherQ1042X/cherNP6597 transheterozygotes also show high frequency of defasciculation defects.

        (Jeong et al., 2017)

        In cherQ1042X homozygous adults, egg chamber formation is normal, but germline ring-canals are defective resulting in inviable, "dumpless" egg chambers.

        (Sokol and Cooley, 2003)
        External Data
        Interactions
        Show genetic interaction network for Enhancers & Suppressors
        Phenotypic Class
        Enhanced by
        Statement
        Reference

        cherQ1042X has abnormal neuroanatomy | embryonic stage phenotype, enhanceable by vari[+]/vari327

        (Jeong et al., 2017)

        cherQ1042X has abnormal neuroanatomy | embryonic stage phenotype, enhanceable by vari[+]/variR3

        (Jeong et al., 2017)

        cherQ1042X has abnormal neuroanatomy | embryonic stage phenotype, enhanceable by Sema1ak13702/Sema1a[+]

        (Jeong et al., 2017)

        cherQ1042X has abnormal neuroanatomy | embryonic stage phenotype, enhanceable by pbl[+]/pbl2

        (Jeong et al., 2017)

        cherQ1042X has abnormal neuroanatomy | embryonic stage phenotype, enhanceable by pbl[+]/pbl5

        (Jeong et al., 2017)
        Enhancer of
        Statement
        Reference

        cher[+]/cherQ1042X is an enhancer of abnormal neuroanatomy | embryonic stage phenotype of Sema1ak13702

        (Jeong et al., 2017)
        Phenotype Manifest In
        Enhanced by
        Enhancer of
        Additional Comments
        Genetic Interactions
        Statement
        Reference

        cherQ1042X, slsj1D7 double heterozygotes do not exhibit obvious flight defects, since high frequency wing beat is sustained for more than 30 seconds, and do not exhibit any obvious sarcomere defects, as compared to wild-type and single heterozygous controls.

        Heterozygosity for cherQ1042X enhances the abnormal accumulation of actin in the H-zone of adult indirect flight muscles observed in slsZCL2144, Df(3R)Exel6176 double heterozygotes.

        (González-Morales et al., 2017)

        The moderate axon pathfinding defects observed in cherQ1042X heterozygous embryos are enhanced by combination with a single copy of any of the following: pbl2, pbl5, vari327 or variR3 but not Df(2R)B65.

        The of Sema1ak13702/+;cherQ1042X/+ double heterozygous embryos show synergistic enhancement of the rather mild moderate guidance defects observed in intersegmental nerve b motor axon in each of the single heterozygotes.

        (Jeong et al., 2017)
        Xenogenetic Interactions
        Statement
        Reference
        Complementation and Rescue Data
        Complements

        cherEP3715

        (Sokol and Cooley, 2003)
        Fails to complement

        cherQ683X

        (Sokol and Cooley, 2003)

        cherEPSΔ5

        (Sokol and Cooley, 2003)

        chersko

        (Sokol and Cooley, 2003)
        Rescued by

        cherNP6597/cherQ1042X is rescued by cherlong.UAS/Scer\GAL4NP6597

        (Jeong et al., 2017)
        Comments

        Expression of cherlong.Scer\UAS under the control of Scer\GAL4cher-NP6597 (a Gal4 driver inherent to the cherNP6597 allele) rescues axon guidance defects observed in intersegmental nerve b motor axons of cherQ1042X/cherNP6597 transheterozygous embryos.

        (Jeong et al., 2017)
        Images (0)
        Mutant
        Wild-type
        Stocks (0)
        Notes on Origin
        Discoverer

        Lehmann

        (Sokol and Cooley, 2003)
        External Crossreferences and Linkouts ( 0 )
        Synonyms and Secondary IDs (2)
        Reported As
        Symbol Synonym
        cherQ1042X
        (Nguyen et al., 2022, Jeong et al., 2017)
        cherQ1042x
        (González-Morales et al., 2017)
        Name Synonyms
        Secondary FlyBase IDs
          References (4)