FB2024_03 , released June 25, 2024
Allele: Dmel\tilB2
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General Information
Symbol
Dmel\tilB2
Species
D. melanogaster
Name
FlyBase ID
FBal0050604
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

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

6bp in-frame deletion in the third exon, removing amino acid residues 313 (Ala) and 314 (Tyr).

In-frame 6bp deletion in exon 3, removing an Ala and a Tyr residue, two non-conserved residues between two conserved C-terminal regions.

Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
Comment:

Reported as a 6 bp in-frame deletion removing residues 313 (A) and 314 (Y).

Variant Molecular Consequences
Associated Sequence Data
DNA sequence
Protein sequence
 
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 ( 0 )
Disease
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Modifiers Based on Experimental Evidence ( 0 )
Disease
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Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
 
Disease-implicated variant(s)
 
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

Mutants are missing the inner and outer dynein arms in the axonemes of Johnston's organ scolopidia. Axonemal breaks and missing microtubules are not seen in the mutant Johnston's organ.

Homozygous males lack the sound-evoked potential in the antennal nerve in response to a pulse song stimulus, indicating deafness.

Mutant aristae (unlike live wild-type aristae) vibrate in a similar way to dead aristae in the absence of external stimuli.

tilB2 homozygous larvae have reduced touch sensitivity compared to wild-type. Locomotion in these larvae is aberrant: compared to controls they are slower and they pause, turn and retreat more often. These defects in locomotion arise at least partially from defective peristaltic motion: stride period and % positive and negative flow are altered compared to wild-type, and the larvae spend the majority of a single peristaltic cycle in a retracted position. Despite their locomoter defects, these larvae exhibit normal phototaxic behaviour.

In wild-type animals, the antennal receiver moves in a non-linear fashion in response to sound. In the absence of sound the receiver oscillates spontaneously. Both Nonlinearity and spontaneous oscillations are absent in mutant animals. fRs ~ 770 Hz.

Mutant males demonstrate vigorous courtship including courtship songs. Relative amplitude of the sine song is higher than normal in mutant male songs and the carrier frequency of the sine song is significantly higher than normal.

Mutants show complete absence of sound-evoked courtship behavior. The sound evoked response (measured via the antennal nerve) is eliminated. No ultrastructural defect is evident in the Johnston's organ. In mutant alleles the spermatid axonemes are defective. Dynein arms are missing and the nexin link may be missing. Some axonemal profiles are split, as observed in elongation stage spermatids.

Larval behavioural phenotype: homozygous larvae have very low sensitivity to touch. Homozygous larval motility is wild type. Less than 10% of adults are viable and the survivors are sedentary and do not fly. Nervous system morphology is indistinguishable from wild type. At a high transepithelial potential (TEP) the mechanoreceptor potential (MRP) is wild type.

External Data
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Phenotypic Class
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Xenogenetic Interactions
Statement
Reference
Complementation and Rescue Data
Fails to complement
Rescued by
Partially rescued by
Comments

tilB+t3.5 fully rescues the characteristic wild-type response to a pulse song stimulus in tilB2 homozygous males.

Expression of either tilBScer\UAS.T:Avic\GFP-EGFP or tilBScer\UAS.T:Hsap\MYC under the control of Scer\GAL4tilB.PK rescues the deafness of tilB2 males (assayed by measuring the sound-evoked response to a pulse song stimulus). tilBScer\UAS.T:Avic\GFP-EGFP and tilBScer\UAS.T:Hsap\MYC each also rescue the deafness of tilB2 males in this assay in the absence of a Scer\GAL4 driver.

Expression of either tilBScer\UAS.T:Avic\GFP-EGFP or tilBScer\UAS.T:Hsap\MYC under the control of Scer\GAL4tilB.PK does not rescue the sterility of tilB2 males.

Expression of one of tilBCCTilBD.Scer\UAS.T:Avic\GFP-EGFP, tilBTilBD.Scer\UAS.T:Avic\GFP-EGFP, tilBLRR.Scer\UAS.T:Hsap\MYC or tilBLRRCC.Scer\UAS.T:Hsap\MYC under the control of Scer\GAL4tilB.PK fails to rescue the deafness of tilB2 males (assayed by measuring the sound-evoked response to a pulse song stimulus).

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External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (1)
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    References (10)