FlyBase Allele Report: Dmel\Vha100-1[4]

General Information

Symbol

Dmel\Vha100-1⁴

Species

D. melanogaster

Name

FlyBase ID

FBal0194363

Feature type

allele

Associated gene

Dmel\Vha100-1

Associated Insertion(s)

Carried in Construct

Also Known As

v100⁴

Genomic Maps

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Allele class

loss of function allele

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

loss of function allele

(Hiesinger et al., 2005)

Mutagen

ethyl methanesulfonate

(Hiesinger et al., 2005)

Mutations Mapped to the Genome

Type

Location

Additional Notes

References

point mutation

3R:29,137,351..29,137,351 [+]

Nucleotide change:

G29137351A

Comment:

G to A mutation in the splice acceptor site.

(Hiesinger, 2013.11.1)

Associated Sequence Data

DDBJ / EMBL / GenBank

DNA sequence

Protein sequence

UniProtKB/Swiss-Prot

UniProtKB/TrEMBL

Progenitor genotype

Cytology

Nature of the lesion

Statement

Reference

Nucleotide substitution: G?A.

(Hiesinger, 2013.11.1)

Mutation of the splice acceptor site at the start of exon 10.

(Hiesinger et al., 2005)

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 )

Phenotypic Data

Phenotypic Class

lethal (with Df(3R)3450)

(Coen et al., 2012)

lethal - all die before end of embryonic stage (with Df(3R)3450)

(Hiesinger et al., 2005)

lethal - all die before end of embryonic stage (with Vha100-1¹)

(Hiesinger et al., 2005)

lethal - all die before end of embryonic stage (with Vha100-1²)

(Hiesinger et al., 2005)

lethal - all die before end of embryonic stage (with Vha100-1³)

(Hiesinger et al., 2005)

lethal - all die before end of embryonic stage (with Vha100-1⁵)

(Hiesinger et al., 2005)

neuroanatomy defective | conditional

(Williamson et al., 2010)

neurophysiology defective | somatic clone

(Coen et al., 2012, Williamson et al., 2010, Hiesinger et al., 2005)

phototaxis defective | somatic clone

(Hiesinger et al., 2005)

some die during embryonic stage (with Df(3R)3450)

(Hiesinger et al., 2005)

some die during embryonic stage (with Vha100-1¹)

(Hiesinger et al., 2005)

some die during embryonic stage (with Vha100-1²)

(Hiesinger et al., 2005)

some die during embryonic stage (with Vha100-1³)

(Hiesinger et al., 2005)

some die during embryonic stage (with Vha100-1⁵)

(Hiesinger et al., 2005)

visible, with Scer\GAL4^unspecified, Vha100-1^R755A.UAS

(Williamson et al., 2010)

Phenotype Manifest In

eye, with Scer\GAL4^unspecified, Vha100-1^R755A.UAS

(Williamson et al., 2010)

eye photoreceptor cell, with Scer\GAL4^unspecified, Vha100-1^R755A.UAS

(Williamson et al., 2010)

rhabdomere | conditional

(Williamson et al., 2010)

Detailed Description

Statement

Reference

Vha100-1⁴ mutant photoreceptor clones display defects in neurotransmission, as shown by loss of "on" transients in electroretinogram (ERG) recordings.

(Coen et al., 2012)

The electroretinogram of mutant photoreceptors lacks the on transient.

Mutant photoreceptor neurons show a reduction in acidification (measured using Lysotracker fluorescence) at 40% of pupal development compared to wild-type cells. Acidification before neuronal differentiation is normal in the mutants.

Mutant photoreceptor terminals contain aberrant multivesicular structures and double-membrane autophagosomal vacuoles.

Animals expressing Vha100-1^{R755A.Scer\UAS} under the control of Scer\GAL4^unspecified in a Vha100-1⁴ background show loss of photoreceptors and have a reduced eye phenotype.

The electroretinogram depolarisation is indistinguishable from wild type in 1 week old mutant photoreceptors. However, a weak reduction in depolarisation becomes apparent after 3 weeks and progressively worsens by 5 weeks. This progressive reduction in depolarisation is seen under both 12 hour light: 12 hour dark and constant darkness conditions. The 5 week old mutant photoreceptors show a loss of most discernible rhabdomere structure.

(Williamson et al., 2010)

Flies in which the retina is homozygous for Vha100-1⁴ (made using the 'ey-flp' system described in FBrf0125463) consistently fail to walk toward light in a phototaxis assay. Electro-retinograms from these animals display normal depolarization in response to light stimuli, but exhibit a complete loss of 'on' and 'off' transients, indicative of a failure to evoke a postsynaptic response.

(Hiesinger et al., 2005)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Phenotype Manifest In

Suppressor of

Statement

Reference

Scer\GAL4^GMR.PF, Scer\GAL4^GMR.PF, Vha100-1⁴ is a suppressor | partially | somatic clone of eye phenotype of Syx1A^UAS.cBa/Syx1A^Scer\UAS.cBa

(Hiesinger et al., 2005)

Scer\GAL4^GMR.PF, Scer\GAL4^GMR.PF, Vha100-1⁴ is a suppressor | partially | somatic clone of ommatidium phenotype of Syx1A^UAS.cBa/Syx1A^Scer\UAS.cBa

(Hiesinger et al., 2005)

Additional Comments

Genetic Interactions

Statement

Reference

The rough eye phenotype of Syx1A^Scer\UAS.cBa; Scer\GAL4^GMR.PF flies raised at 18^oC is largely suppressed when the eye is made homozygous for Vha100-1⁴.

(Hiesinger et al., 2005)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Rescued by

Vha100-1⁴ is rescued by Vha100-1^N509Q.UAS/Scer\GAL4^GMR.PF

(Coen et al., 2012)

Df(3R)3450/Vha100-1⁴ is rescued by Scer\GAL4^elav-C155/Vha100-1^N509Q.UAS

(Coen et al., 2012)

Vha100-1¹/Vha100-1⁴ is rescued by Vha100-1^{+tCH322-119J05}

(Venken et al., 2009)

Partially rescued by

Vha100-1⁴ is partially rescued by Scer\GAL4^unspecified/Vha100-1^R755A.UAS

(Williamson et al., 2010)

Comments

Expression of Vha100-1^{N509Q.Scer\UAS} under the control of Scer\GAL4^GMR.PF fully rescues the neurotransmission defects seen when photoreceptors are mutant for Vha100-1⁴.

Expression of Vha100-1^{N509Q.Scer\UAS} under the control of Scer\GAL4^elav-C155 fully rescues the lethality seen in Vha100-1⁴/Df(3R)3450 mutants.

(Coen et al., 2012)

The on transient of the electroretinogram is significantly rescued in Vha100-1⁴ mutant photoreceptors in which Vha100-1^{R755A.Scer\UAS} is expressed under the control of Scer\GAL4^unspecified, although this is accompanied by a pronounced decrease in electroretinogram depolarisation.

The acidification defects seen in Vha100-1⁴ mutant photoreceptors after neuronal differentiation are not rescued by expression of Vha100-1^{R755A.Scer\UAS} in the photoreceptors under the control of Scer\GAL4^unspecified.

(Williamson et al., 2010)

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (4)

Reported As

Symbol Synonym

Vha100-1⁴

(Hiesinger, 2013.11.1)

v100 null

(Coen et al., 2012)

v100⁴

(Jin et al., 2018, Williamson et al., 2010, Venken et al., 2009, Hiesinger et al., 2005)

v100^null

(Coen et al., 2012)

Name Synonyms

Secondary FlyBase IDs

References (6)

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