FlyBase Allele Report: Dmel\GlcAT-P[brv1]

General Information

Symbol

Dmel\GlcAT-P^brv1

Species

D. melanogaster

Name

brave¹

FlyBase ID

FBal0265805

Feature type

allele

Associated gene

Dmel\GlcAT-P

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

Mutagen

ethyl methanesulfonate

(Pandey et al., 2011)

Progenitor genotype

Cytology

Description

A G to A transition at the splice acceptor site located immediately before the start of the 7th exon results in a 14bp deletion in the transcript RNA sequence due to a cryptic splicing site. This introduces a frameshift that changes the amino acid sequence of the following 160 residues, before ending in a premature stop codon.

(Pandey et al., 2011)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

3L:11,178,939..11,178,939 [-]

Nucleotide change:

G11178939A

Reported nucleotide change:

G?A

Comment:

G to A mutation in the splice acceptor of the penultimate intron. See also Figure S1.

(Pandey et al., 2011)

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

(Pandey et al., 2011)

lethal - all die before end of pupal stage

(Pandey et al., 2011)

some die during pupal stage

(Pandey et al., 2011)

Phenotype Manifest In

larval peripheral nervous system

(Pandey et al., 2011)

larval ventral nerve cord | larval stage

(Pandey et al., 2011)

larval ventral nerve cord | second instar larval stage

(Pandey et al., 2011)

larval VUM neuron | larval stage

(Pandey et al., 2011)

leg

(Pandey et al., 2011)

PNS glial cell | larval stage

(Pandey et al., 2011)

wing

(Pandey et al., 2011)

Detailed Description

Statement

Reference

GlcAT-P^brv1 mutant 3rd instar larvae exhibit a dramatically extended larval ventral nerve cord, 2-3 times that found in wild-type controls.

GlcAT-P^brv1 adult escapers show developmental defects in the legs, while some exhibit rudimentary wings.

GlcAT-P^brv1 germline clones, with no maternal GlcAT-P contribution do not exhibit an abnormal embryonic nervous system phenotype.

During late embryogenesis (stage 17), elongation of the ventral nerve cord is not detected in maternal and zygotic GlcAT-P^brv1 mutants. However, in GlcAT-P^brv1 mutant L1 larvae, an abnormally extended ventral nerve cord is readily detectable. As larval development proceeds to L2 and L3, the elongation of the ventral nerve cord becomes more pronounced. All parasegments are present and in the correct sequence. The structure of the ventral nerve cord is not grossly affected in GlcAT-P^brv1 mutants. In addition, the viability of GlcAT-P^brv1 VUM neurons from larval mushroom bodies does not appear to be affected, despite displacement of their cell bodies and neurites along the longitudinal axis, possibly as a consequence of the elongation of the nervous system along the anterior-posterior axis.

There is no significant difference in the number of proliferating mira-positive cells in GlcAT-P^brv1 mutant versus wild-type larval brains.

Peripheral nerve fibres are significantly different in length in GlcAT-P^brv1 mutant L1 larval stages compared to wild-type. This difference is exacerbated in L2 and L3 stages but is not present in stage 17 embryos. Nerve fibres are considerably shorter in GlcAT-P^brv1 mutants at the L3 stage, by approximately one third, as compared to wild-type. As a consequence of the nerve fibers being shorter, they also contain less total peripheral glia as compared to wild-type, although the spacing and the distribution of peripheral nerve glia on a similar long stretch of the nerve fibers does not seem to be affected.

(Pandey et al., 2011)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

GlcAT-P^brv1 has abnormal neuroanatomy phenotype, enhanceable by repo[+]/repo^M1B

(Pandey et al., 2011)

Suppressed by

Statement

Reference

GlcAT-P^brv1 has abnormal neuroanatomy phenotype, suppressible | partially by Tb[+]/Tb¹

(Pandey et al., 2011)

Phenotype Manifest In

Enhanced by

Statement

Reference

GlcAT-P^brv1 has larval ventral nerve cord | larval stage phenotype, enhanceable by repo[+]/repo^M1B

(Pandey et al., 2011)

GlcAT-P^brv1 has larval peripheral nervous system phenotype, enhanceable by repo[+]/repo^M1B

(Pandey et al., 2011)

Suppressed by

Statement

Reference

GlcAT-P^brv1 has larval ventral nerve cord | larval stage phenotype, suppressible | partially by Tb[+]/Tb¹

(Pandey et al., 2011)

GlcAT-P^brv1 has larval peripheral nervous system phenotype, suppressible | partially by Tb[+]/Tb¹

(Pandey et al., 2011)

Additional Comments

Genetic Interactions

Statement

Reference

A repo^M1B heterozygous background enhances the ventral nerve cord elongation found in GlcAT-P^brv1 homozygous mutants. Correspondingly, the posterior-most peripheral nerves shorten in these mutants compared to wild-type and GlcAT-P^brv1 homozygotes. The ventral nerve cord in L2 larvae almost spans the entire length of the larva.

A Tb¹ heterozygous background suppresses the ventral nerve cord extension found in GlcAT-P^brv1 homozygous mutant L3 larvae, however, these double mutants still exhibit extension compared to wild-type controls. This demonstrates that the ventral nerve cord extension correlates with the total length of the larva, suggesting that in GlcAT-P^brv1 mutants the ventral nerve cord expands as a consequence of increased tension from shorter peripheral nerves or trachea, possibly due to some growth retardation of larval peripheral nerves or trachea.

(Pandey et al., 2011)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Rescued by

GlcAT-P^brv1 is rescued by Scer\GAL4^FRT.Act5C/GlcAT-P^UAS.cPa

(Pandey et al., 2011)

GlcAT-P^brv1 is rescued by Scer\GAL4^gcm.PU/GlcAT-P^UAS.cPa

(Pandey et al., 2011)

GlcAT-P^brv1 is rescued by Scer\GAL4^crq.PO/GlcAT-P^UAS.cPa

(Pandey et al., 2011)