FlyBase Allele Report: Dmel\mth[Δ6]

General Information

Symbol

Dmel\mth^Δ6

Species

D. melanogaster

Name

FlyBase ID

FBal0141035

Feature type

allele

Associated gene

Dmel\mth

Associated Insertion(s)

Carried in Construct

Key Links

Allele class

Mutagen

P-element activity

Nature of the Allele

Allele class

Mutagen

P-element activity

(Song et al., 2002)

Progenitor genotype

mth¹

(Song et al., 2002)

Cytology

Description

Imprecise excision of P{lacW} from mth¹, has create a deletion that removes the C terminal end of exon 3 of mth, the N terminal end of exon 4 and the intervening intron sequences.

(Song et al., 2002)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

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 neurophysiology (with mth¹)

(Song et al., 2002)

Phenotype Manifest In

Detailed Description

Statement

Reference

In mth¹ homozygotes, the amplitudes of evoked excitatory junctional potentials (EJPs) are reduced to about 63% of those seen in controls. In mth¹/mth^Δ6 they reduced to about 57%. The quantal content of evoked release in mutant neuromuscular junctions is equally reduced for all ^Ca<up>2+</up>_es. At 1mM^Ca<up>2+</up>_e, the quantal content is reduced to about half that of controls, and to about 40% in mth¹/mth^Δ6.