FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\SMC2jsl2
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General Information
Symbol
Dmel\SMC2jsl2
Species
D. melanogaster
Name
FlyBase ID
FBal0191670
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: ?827term.

The premature stop codon should result in production of a truncated SMC2 protein which lacks the C-terminal globular domain and part of the adjacent coiled-coil sequence.

Nucleotide substitution: C2482T.

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

C14849730T

Reported nucleotide change:

C2482T

Amino acid change:

Q828term | SMC2-PA

Reported amino acid change:

?827term

Comment:

The mutation is reported as a C to T nucleotide change in codon 827 leading to a nonsense mutation. A C to T change in codon 827 (Leu - CTG) does not result in a stop codon but a C to T change in the adjacent Gln (CAG) codon would result in a premature stop.

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

mitosis & nuclear chromosome

Detailed Description
Statement
Reference

The brains of SMC2jsl2 third instar larvae are much smaller than wild-type brains. The brains of SMC2jsl2 second instar larvae show a much lower percentage of mitotic cells than wild type. The chromosomes of these cells appear fuzzy with almost no sister chromatid resolution. All telophase and anaphase-like cells show chromatin bridges and an abnormally high percentage of anaphase cells also show bridges. However, there are no obvious delays in mitotic progression.

External Data
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Phenotypic Class
Phenotype Manifest In
Additional Comments
Genetic Interactions
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Xenogenetic Interactions
Statement
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Complementation and Rescue Data
Comments
Images (0)
Mutant
Wild-type
Stocks (1)
Notes on Origin
Discoverer

J. Sekelsky

External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (2)
Reported As
Name Synonyms
Secondary FlyBase IDs
    References (3)