FlyBase Allele Report: Dmel\comt[clp]

General Information

Symbol

Dmel\comt^clp

Species

D. melanogaster

Name

FlyBase ID

FBal0123921

Feature type

allele

Associated gene

Dmel\comt

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

loss of function allele

Mutagen

Nature of the Allele

Allele class

loss of function allele

(Golby et al., 2001)

Mutagen

Progenitor genotype

Cytology

Description

Frameshift at amino acid 709, caused by a one-nucleotide deletion. Resulting polypeptide would have the usual carboxy-terminal 37 amino-acids replaced by 18 novel amino acids.

(Golby et al., 2001)

Contains a single bp deletion that shifts the reading frame 36 amino acids upstream of the carboxy terminus and leads to a premature stop codon.

(Littleton et al., 2001)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

deletion

X:13,261,751..13,261,751 [+]

Comment:

Frameshift at amino acid 709, caused by a one-nucleotide deletion of the first base of the codon. The resulting polypeptide has the carboxy-terminal 37 amino-acids replaced by 18 novel amino acids.

(Golby et al., 2001, Littleton et al., 2001)

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 ( 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

abnormal neuroanatomy | larval stage

(Sanyal and Krishnan, 2001)

lethal (with Df(1)C246)

(Sanyal and Krishnan, 2001)

lethal (with Df(1)wy26)

(Sanyal and Krishnan, 2001)

lethal | germline clone | pharate adult stage | recessive

(Golby et al., 2001)

lethal | pharate adult stage | recessive

(Golby et al., 2001)

lethal | recessive

(Littleton et al., 2001)

lethal - all die before end of larval stage | recessive

(Sanyal and Krishnan, 2001)

paralytic | heat sensitive (with comt¹)

(Sanyal and Krishnan, 2001)

paralytic | heat sensitive (with comt⁴)

(Sanyal and Krishnan, 2001)

paralytic | heat sensitive (with comt⁶)

(Sanyal and Krishnan, 2001)

some die during larval stage | recessive

(Sanyal and Krishnan, 2001)

uncoordinated | adult stage | recessive

(Golby et al., 2001)

Phenotype Manifest In

NMJ bouton

(Sanyal and Krishnan, 2001)

Detailed Description

Statement

Reference

When dissected from the pupal case the flies appear normal but are incapable of coordinated movement. The lethal phase is not altered in embryos derived from germ-line clones for comt^clp. Hemizygous male larvae take much longer than wild type to roll from lying on their dorsal surface to their ventral surface. They are often found protruding vertically from the surface of the medium for long periods of time and burrow deeply and die - possibly as a result of suffocation. Hemizygous males also accumulate gas in their intestinal tract.

(Golby et al., 2001)

Some homozygous escapers are found; these animals appear as normal adults, but do not eclose from the pupal case, and if freed from the case show seizure-like behaviour. Electroretinograms of freed adult escapers are normal.

Mutant larvae have a reduced number of boutons per muscle area compared to controls (assayed at the neuromuscular junction of muscles 6 and 7 in the A2 segment).

(Sanyal and Krishnan, 2001)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

comt^clp has lethal | recessive | pharate adult stage phenotype, suppressible by Scer\GAL4^elav-C155/Nsf2^UAS.cGa

(Golby et al., 2001)

Phenotype Manifest In