FB2024_03 , released June 25, 2024
Allele: Dmel\paraShu
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General Information
Symbol
Dmel\paraShu
Species
D. melanogaster
Name
FlyBase ID
FBal0015642
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

Nature of the Allele
Progenitor genotype
Cytology
Description

Amino acid replacement: M1327I.

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

G16481404A

Reported nucleotide change:

G?A

Amino acid change:

M1303I | para-PAA; M1327I | para-PE; M1332I | para-PAO; M1344I | para-PX; M1308I | para-PZ; M1305I | para-PAB; M1350I | para-PBG; M1316I | para-PAK; M1303I | para-PAC; M1350I | para-PB; M1316I | para-PV; M1326I | para-PBB; M1319I | para-PS; M1351I | para-PBA; M1350I | para-PA; M1302I | para-PAM; M1295I | para-PQ; M1281I | para-PAW; M1330I | para-PAL; M1319I | para-PN; M1333I | para-PD; M1326I | para-PAH; C919Y | para-PBE; M1350I | para-PBF; M1316I | para-PH; M1298I | para-PI; M1306I | para-PG; M1329I | para-PAF; M1321I | para-PW; M1337I | para-PU; M1351I | para-PAY; M1351I | para-PAJ; M1305I | para-PAD; M1308I | para-PAQ; M1330I | para-PAZ; M1306I | para-PL; M1362I | para-PAN; M1308I | para-PAG; M1298I | para-PR; M1319I | para-PM; M1327I | para-PF; C242Y | para-PAR; C874Y | para-PBC; M1357I | para-PY; M1318I | para-PAX; M1327I | para-PAE; V1048I | para-PAV; M1340I | para-PP; M1275I | para-PAT; M1311I | para-PO; M1316I | para-PAP; V1056I | para-PAU; M1316I | para-PBD; M1350I | para-PC; M1305I | para-PAI; M1319I | para-PJ; M1295I | para-PK; M1286I | para-PAS; M1329I | para-PT; M1315I | para-PBH

Reported amino acid change:

M1327I

Comment:

Reported as a G to A nucleotide change causing a M1327I mutation relative to para-PE.

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 ( 1 )
Disease
Evidence
References
Modifiers Based on Experimental Evidence ( 1 )
Disease
Interaction
References
model of  epilepsy
is ameliorated by parats1
is ameliorated by parats115
is exacerbated by paraGEFS+
is ameliorated by parabss1
is ameliorated by paraGD3392
is ameliorated by GstS1GD16335
is ameliorated by GstS1M26
Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
 
Disease-implicated variant(s)
 
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

paraShu hemizygous male adults only survive for a few days and exhibit severe defects in locomotion, precluding behavioral assays, and courtship behavior, leading to rare copulation, as compared to controls; paraShu homozygous females exhibit near lethality before adulthood and paraShu heterozygous female adults exhibit a significantly decrease in lifespan, as compared to controls.

Both paraShu hemizygous male adults and paraShu heterozygous females adults, reared at 25[o]C temperature, exhibit highly penetrant wing posture defects (downturned wings) and highly penetrant thorax indentations, as compared to controls.

paraShu heterozygous female adults exhibit locomotor defects, as compared to controls: uncoordinated movement, significant increase in the movement time spent in the centre of a circular space (instead of movement mostly along the edges), frequent spontaneous jerking, significant and progressive increase in severe shuddering episodes, significant and progressive decrease in the climbing capacity in negative geotaxis assays, and significant increases in the velocities of head and hind-leg movements under ether anesthesia (the leg movements are sporadic and stop after severance from the body), as compared to controls; these females also exhibit a fully penetrant heat-induced seizure phenotype within 20sec of exposure to a 40[o]C of temperature, which is not observed in controls.

Both paraShu hemizygous male adults and paraShu heterozygous female adults exhibit a significant increase in spontaneous neurotransmission to dorsal longitudinal muscles, as compared to controls; the dorsal longitudinal muscles of paraShu hemizygous male adults also exhibit a significant increase in the latency period, but no significant alteration in the frequency of stimuli that elicits response failure (FF50), as compared to controls; the dorsal longitudinal muscles of paraShu heterozygous female adults exhibit significant increases in both the duration of discharges and number of spikes per discharge upon high-frequency, high-voltage (>60V) electroconvulsive stimulation, and a small but significant increase in the frequency of stimuli that elicits response failure (FF50), but no significant alteration in the latency period, as compared to controls.

Sudden leg jerks are frequent and enough to topple the fly; negative geotaxis is sluggish and seemingly not a consequence of shuddering bouts during climbing toward top of glass vials; neither of these behavioral abnormalities is pronounced in young adults, but they become maximal after about a week of adult life; lithium or ammonium ions placed in medium on which the mutant is grown reduce the severities of the eventual adult phenotypes. Homozygous females are not observed.

External Data
Interactions
Show genetic interaction network for Enhancers & Suppressors
Phenotypic Class
Phenotype Manifest In
Additional Comments
Genetic Interactions
Statement
Reference
Xenogenetic Interactions
Statement
Reference
Complementation and Rescue Data
Comments

paraShu/parats1, paraShu/parats115 or paraShu/parabss1 transheterozygous female adults reared at 25[o]C temperature exhibit strong decreases in wing posture defects and in the movement time spent in the centre of a circular space, whereas paraShu/paraGEFS+ transheterozygous female adults reared at 25[o]C temperature exhibit a significant increase in the movement time spent in the centre of a circular space, but no significant differences in wing posture defects, as compared to paraShu heterozygous females.

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Mutant
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Stocks (0)
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External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (4)
Reported As
Symbol Synonym
Name Synonyms
Secondary FlyBase IDs
    References (4)