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

General Information

Symbol

Dmel\Vha100-1¹

Species

D. melanogaster

Name

FlyBase ID

FBal0194360

Feature type

allele

Associated gene

Dmel\Vha100-1

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

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)

Progenitor genotype

Cytology

Description

Nucleotide substitution: G?A.

(Hiesinger, 2013.11.1)

Mutation of the splice acceptor site at the start of exon 7.

(Hiesinger et al., 2005)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

3R:29,135,261..29,135,261 [+]

Nucleotide change:

G29135261A

Comment:

G to A mutation in the splice acceptor site.

(Hiesinger, 2013.11.1)

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

(Williamson and Hiesinger, 2010)

abnormal neurophysiology | adult stage | somatic clone

(Zhao et al., 2018)

abnormal neurophysiology | embryonic stage (with Df(3R)3450)

(Hiesinger et al., 2005)

abnormal neurophysiology | somatic clone

(Hiesinger et al., 2005)

abnormal phototaxis | somatic clone

(Hiesinger et al., 2005)

abnormal visual perception | adult stage | somatic clone

(Zhao et al., 2018)

lethal

(Mo et al., 2020)

lethal | recessive

(Zhao et al., 2018)

lethal - all die during embryonic stage (with Df(3R)3450)

(Hiesinger et al., 2005)

lethal - all die during embryonic stage (with Vha100-1²)

(Hiesinger et al., 2005)

lethal - all die during embryonic stage (with Vha100-1³)

(Hiesinger et al., 2005)

lethal - all die during embryonic stage (with Vha100-1⁴)

(Hiesinger et al., 2005)

lethal - all die during embryonic stage (with Vha100-1⁵)

(Hiesinger et al., 2005)

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

(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 Vha100-1⁴)

(Hiesinger et al., 2005)

some die during embryonic stage (with Vha100-1⁵)

(Hiesinger et al., 2005)

visible | somatic clone

(Mo et al., 2020)

Phenotype Manifest In

eye photoreceptor cell & synapse | somatic clone

(Hiesinger et al., 2005)

retina | adult stage | somatic clone

(Zhao et al., 2018)

synaptic vesicle & eye photoreceptor cell | somatic clone

(Hiesinger et al., 2005)

wing vein | ectopic | somatic clone

(Mo et al., 2020)

Detailed Description

Statement

Reference

Adult wings containing Vha100-1¹ clones exhibit ectopic veins.

(Mo et al., 2020)

Vha100-1¹ homozygous whole-eye clones, induced in the third instar larva, lose on-off retinal transients in response to short light pulses in the adult.

(Zhao et al., 2018)

Vha100-1² in combination with Vha100-1², Vha100-1³, Vha100-1⁴, Vha100-1⁵ or Df(3R)3450 develop to late embryonic stages, but fail to hatch. The same phenotype is seen when these embryos are born to mothers with a Vha100-1¹ homozygous germ-line.

Flies in which the retina is homozygous for Vha100-1¹ (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.

When eye photoreceptor cells are selectively made homozygous for Vha100-1¹ (using Scer\FLP1^ey.3.5.hs; Scer\FRT Vha100-1¹/Scer\FRT 'cell-lethal'), their projections into the brain appear normal. Despite some subtle defects in the lamina, the cartridges of the lamina also appear normally organised. However, mutant terminals show an approximately 2.5 fold (p<0.0001) increase in vesicle density compared to wild-type. In addition the number of capitate projections (dynamically active invaginations of the surrounding epithelial glia associated with vesicle endocytosis) is reduced (p<0.001) and some mutant terminals appear enlarged. The numbers of active zones and mitochondria per terminal are unaltered in mutant photoreceptor cells.

The frequency, but not the amplitude, of mini excitatory postsynaptic currents is significantly reduced (p<0.05) at the neuromuscular junctions of Vha100-1¹/Df(3R)3450 embryos. However, excitatory postsynaptic currents induced by stimulation of the motor nerve supplying muscle 6 in these embryos have significantly lower amplitudes and higher failure rate than in wild-type. As in wild-type, postsynaptic currents are induced in response to application of a hypertonic solution at the neuromuscular junction.

Assays of dye-uptake (FM1-43) into boutons at neuromuscular junctions indicate a significant reduction in vesicle cycling at unstimulated junctions of Vha100-1¹/Df(3R)3450 embryos compared to wild-type.

(Hiesinger et al., 2005)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressor of

Statement

Reference

Vha100-1¹/Vha100-1[+] is a suppressor of abnormal neurophysiology phenotype of Hsap\HTT^128Q.FL.UAS, Scer\GAL4^elav-C155

(Romero et al., 2008)

Other

Statement

Reference

Vha100-1¹, Vha100-4^D4 has visible | somatic clone phenotype

(Mo et al., 2020)

Phenotype Manifest In

Suppressor of

Statement

Reference

Vha100-1¹/Scer\GAL4^GMR.PF is a suppressor of eye phenotype of Syx1A^UAS.cBa

(Hiesinger et al., 2005)

Vha100-1¹/Scer\GAL4^GMR.PF is a suppressor of ommatidium phenotype of Syx1A^UAS.cBa

(Hiesinger et al., 2005)

NOT Suppressor of

Statement

Reference

Vha100-1¹/Vha100-1[+] is a non-suppressor of rhabdomere of eye photoreceptor cell | conditional | adult stage phenotype of Hsap\HTT^128Q.FL.UAS, Scer\GAL4^GMR.PF

(Romero et al., 2008)

Other

Statement

Reference

Vha100-1¹, Vha100-4^D4 has wing phenotype

(Mo et al., 2020)

Additional Comments

Genetic Interactions

Statement

Reference

Vha100-1¹ Vha100-4^D4 wings are severely malformed.

(Mo et al., 2020)

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 Vha100-1¹.

(Hiesinger et al., 2005)

Xenogenetic Interactions

Statement

Reference

Vha100-1¹/+ does not fully suppress the increased excitatory junction potential EJP amplitude seen in Hsap\HD^{128Q.FL.Scer\UAS}, Scer\GAL4^elav-C155 animals, and fails to suppress the increased release probability at 0.25 mM Ca[2+].

Vha100-1¹/+ does not suppress the reduced number of rhabdomeres per ommatidium phenotype seen in Hsap\HD^{128Q.FL.Scer\UAS}, Scer\GAL4^GMR.PF animals at 20 days.

(Romero et al., 2008)

Complementation and Rescue Data

Rescued by

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

(Venken et al., 2009)

Vha100-1¹ is rescued by Vha100-1^UAS.cHa/Scer\GAL4^unspecified

(Hiesinger et al., 2005)

Comments

Electro-retinogram defects in flies with retinas homozygous for Vha100-1¹ (made using the 'ey-flp' system described in FBrf0125463), are rescued by Vha100-1^Scer\UAS.cHa; Scer\GAL4^unspecified

(Hiesinger et al., 2005)

Images (0)

Mutant

Wild-type

Stocks (1)

Bloomington

39669

y¹ w^*; P{UAS-Vha100-1.H}7.3; P{neoFRT}82B Vha100-1¹/TM3, Sb¹

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (6)

Reported As

Symbol Synonym

Vha100-1¹

(Banerjee et al., 2024, Mo et al., 2020, Hiesinger, 2013.11.1)

Vha¹

(Romero et al., 2008)

v0a1¹

(Williamson and Hiesinger, 2010)

v100¹

(Venken et al., 2009, Hiesinger et al., 2005)

vha100-1¹

(Zhao et al., 2018)

vha¹

(Romero et al., 2008)

Name Synonyms

Secondary FlyBase IDs

References (8)

Report Sections

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