FB2024_03 , released June 25, 2024
Allele: Dmel\simJ1-47
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General Information
Symbol
Dmel\simJ1-47
Species
D. melanogaster
Name
FlyBase ID
FBal0140935
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

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

Amino acid replacement: S41F.

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

C13072803T

Amino acid change:

S65F | sim-PA; S41F | sim-PB; S52F | sim-PC; S41F | sim-PD

Reported amino acid change:

S41F

Comment:

Site of nucleotide substitution in mutant inferred by FlyBase based on reported amino acid change.

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
Evidence
References
Modifiers Based on Experimental Evidence ( 0 )
Disease
Interaction
References
Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
 
Disease-implicated variant(s)
 
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

The ventral nerve cord of homozygous embryos appears wild type at the permissive temperature (17oC) and homozygotes eclose. At the restrictive temperature (29oC), homozygous embryos have a strong midline defect; the commissures appear fused and the connectives are closer to the midline than normal. simJ1-47/sim2 embryos raised at 17oC show a mild fused commissure phenotype in the ventral nerve cord, while at 29oC they show a complete collapse of the nervous system. Homozygous larvae raised at the permissive temperature (17oC) have a normal sized anal pad and anal slit. Homozygous larvae raised at the restrictive temperature have a greatly reduced anal slit. The anal slit is shortened in simJ1-47/sim2 larvae raised at the permissive temperature (17oC), while at the restrictive temperature (29oC) the anal slit is completely missing. The anal pad cannot be seen in homozygous adult females (raised at the permissive temperature). The hindgut is not connected to the rectum and is frequently swollen. The thorn bristles and vulva appear to be missing. The ovaries are present but poorly developed. Oogenesis appears to start normally but stops prematurely. The anal plate, clasper and penis are missing in homozygous adult males (raised at the permissive temperature). Testis development is severely impaired. The hindgut is not properly connected to the rectum. The Malpighian tubules form normally. At 29oC, simJ1-47/sim2 adults are not recovered. At 17oC, rare escapers (0.1% of the expected number of flies) are seen. These flies are sterile and frequently lack external genitalia and the anal plate. Of flies without external defects, simJ1-47/sim2 males do not perform normal courtship behaviour and simJ1-47/sim2 females ignore wild-type males. Most simJ1-47/sim2 adults only walk in circles and they show abnormal responses in Buridan's paradigm; they show a markedly reduced walking speed, the activity period is usually shorter and they show no measurable influence from visual landmarks on their orientation behaviour. Optomotor tests indicate that the flies are not entirely blind. Leg movement appears to be coordinated normally, although step length differs between the right and left body side. The flies show defects associated with the inner chiasm of the optic lobe and in the central complex. In the central complex, the protocerebral bridge is thinner and less compact than normal in 70% of brains and the fan-shaped body is divided posterior-sagittally in 15% of brains. Ectopic fibre bundles cut into the lobula either unilaterally or bilaterally in 40% of optic lobes.

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Xenogenetic Interactions
Statement
Reference
Complementation and Rescue Data
Comments
Images (0)
Mutant
Wild-type
Stocks (0)
Notes on Origin
Discoverer

Separable from: other lethal mutations on the chromosome.

External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (2)
Reported As
Name Synonyms
Secondary FlyBase IDs
    References (5)