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General Information
Symbol
Dmel\Chc1
Species
D. melanogaster
Name
FlyBase ID
FBal0033511
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Key Links
Nature of the Allele
Mutations Mapped to the Genome
 
Type
Location
Additional Notes
References
Associated Sequence Data
DNA sequence
Protein sequence
 
 
Progenitor genotype
Cytology
Nature of the lesion
Statement
Reference
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 ( 1 )
Disease
Interaction
References
Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
 
Disease-implicated variant(s)
 
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

Chc1 embryos demonstrate over-elongated dorsal trunks.

The paracellular barrier integrity of Chc1 embryos is compromised, as injected dye leaks into the trachea in 36% of analysed mutants.

The neuromuscular junctions of Chc4/Chc1 third instar larvae show similar levels of membrane uptake (dye internalisation) to controls in response to nerve stimulation. However, unlike in controls, the dye is often concentrated in subsynaptic structures, rather than the typical donut shape seen in controls. The size of the boutons is similar to wild type and no additional satellite boutons are seen.

Flies expressing ChcN.4C.T:Zzzz\FLAG,T:Zzzz\TC in a Chc1 mutant background are viable. They display no behavioural defects, the morphology of the third instar larval neuromuscular junctions is indistinguishable from controls, postsynaptic receptors are clustered normally and neurotransmitter release in response to low and high frequency nerve stimulation is similar to controls. These phenotypes are seen both in the presence and absence of Chc photoinactivation by FlAsH-FALI.

When flies expressing ChcN.4C.T:Zzzz\FLAG,T:Zzzz\TC in a Chc1 mutant background are pretreated with FlAsH-FALI to photoinactivate Chc, they show similar amounts of membrane uptake (dye internalisation) to controls in response to nerve stimulation. However, unlike in controls, the dye is often concentrated in subsynaptic structures, rather than the typical donut shape. A similar phenotype is seen when flies are treated with chlorpromazine, but the phenotype is not enhanced by combining treatment with FlAsH-FALI and chlorpromazine together. When flies are stimulated for a second time in the absence of dye, the previously internalised dye is not unloaded, indicating that membrane internalised in the absence of Chc is not released.

The synaptic boutons of third instar larvae expressing ChcN.4C.T:Zzzz\FLAG,T:Zzzz\TC in a Chc1 mutant background and subjected to FlAsH-FALI to photoinactivate Chc are almost devoid of synaptic vesicles and show giant membrane invaginations, with some measuring >1μM in cross section. There is a decrease in vesicle number per area and an increase in vesicle size. The remaining round or oval shaped vesicles in these boutons show heterogeneity in size and a population of larger vesicles and cisternae is observed. However, active zones mitochondria and subsynaptic reticulum are all present in both control and FlAsH-treated synapses.

FlAsH-FALI treatment has no effect on the excitatory junction potential (EJP) amplitude seen in flies expressing ChcN.4C.T:Zzzz\FLAG,T:Zzzz\TC in a Chc1 mutant background during low frequency stimulation. The same result is seen at all Ca[2+] concentrations tested. However, when EJPs are recorded during intense stimulation, FlAsH-FALI photoinactivation reduces the relative EJP amplitude compared to controls, with the amplitude dropping to <25% of the initial value.

Flies expressing Chc4C.T:Zzzz\FLAG,T:Zzzz\TC in a Chc1 mutant background are viable and don't show any obvious developmental defects. No defects are seen in climbing, negative geotaxis or flying. Under normal conditions electroretinogram recordings in response to a light flash are comparable to wild type. However when FlAsH is micro-injected under the photoreceptor layer these flies lack the normal "on" and "off" transients seen in controls.

Mutant embryos show an extension of tracheal tube length compared to controls, show a failure of luminal chitin extracellular matrix organisation, and show a loss of lumen clearance which results in a failure of gas filling.

No defects are seen in axon pruning during metamorphosis, or defects seen in the mushroom body.

Strong loss of function allele.

Germline clonal analysis demonstrates an autonomous cell-lethal mutation in the female germline. Most embryos succeed in hatching, unhatched embryos show no regular cuticle defect.

External Data
Interactions
Show genetic interaction network for Enhancers & Suppressors
Phenotypic Class
Enhancer of
Statement
Reference

Chc[+]/Chc1 is an enhancer of visible phenotype of lqfglrs.Tag:FLAG

Chc[+]/Chc1 is an enhancer of visible phenotype of fafFO8/fafBX3

Chc[+]/Chc1 is an enhancer of visible | recessive phenotype of fafBX3, lqfbE25

Chc[+]/Chc1 is an enhancer of visible phenotype of fafBX3, lqfbE25

Suppressor of
Statement
Reference
Other
Statement
Reference

Chc[+]/Chc1, lqfFDD9 has lethal phenotype

AP-2α3, Chc[+]/Chc1 has visible | dominant | heat sensitive phenotype

Chc[+]/Chc1, put10460 has visible | dominant | heat sensitive phenotype

AP-2α3/alpha-Adaptin[+], Chc1 has visible | dominant | heat sensitive phenotype

Chc1, put[+]/put10460 has visible | dominant | heat sensitive phenotype

Chc[+]/Chc1, tkv8 has visible | dominant | heat sensitive phenotype

Phenotype Manifest In
NOT Enhanced by
Statement
Reference

Chc1 has | heat sensitive phenotype, non-enhanceable by MadB1

Chc1 has | heat sensitive phenotype, non-enhanceable by dppBC86

Enhancer of
Statement
Reference

Chc[+]/Chc1 is an enhancer of dendrite | larval stage phenotype of NakdsRNA.UAS, Scer\GAL4109(2)80

Chc[+]/Chc1 is an enhancer of eye phenotype of lqfglrs.Tag:FLAG

Chc[+]/Chc1 is an enhancer of eye phenotype of fafFO8/fafBX3

Chc[+]/Chc1 is an enhancer of wing phenotype of fafBX3, lqfbE25

Chc[+]/Chc1 is an enhancer of eye phenotype of fafBX3, lqfbE25

Suppressor of
Statement
Reference
Other
Additional Comments
Genetic Interactions
Statement
Reference

Chc1/+ enhances the reduction in the number of dendritic endpoints of dorsal dendritic arborisation neurons which is seen in larvae expressing NakdsRNA.Scer\UAS under the control of Scer\GAL4109(2)80. In addition, clusters of shortened terminals are more often seen.

Chc1/+ ; auxD128/auxK47 adults cannot be recovered.

The Chc1/+ ; lqfFDD9/lqfFDD9 combination is lethal. Rare escapers have severely malformed eyes and tarsal fusions and the wing phenotype is enhanced compared to lqfFDD9 homozygotes. The fafBX3/fafFO8 phenotype is dominantly enhanced by Chc1. The lqfbE25 fafBX3/fafBX3 mutant phenotype is dominantly enhanced by Chc1.

Double heterozygotes of α-Adaptin3/+ with Chc1/+ have a reduced wing with vein defects at 25oC and the wing remnant phenotype at 29oC. Double heterozygotes of α-Adaptin3/+ with Chc1/+ at 18oC show a thickened posterior crossvein phenotype, reminiscent of the tkv mutant phenotype. At 18oC and 25oC, Chc1/+, put10460/+ double heterozygotes have normal wings, while at 29oC they show a wing reduction and wing vein truncation phenotype, indicative of a problem with A/P pattern formation. At 25oC, Chc1/+, tkv8/+ double heterozygotes show thickened veins and wing reduction phenotypes.

Xenogenetic Interactions
Statement
Reference
Complementation and Rescue Data
Fails to complement
Comments

ChcT:Ivir\HA1 rescues the lethality of Chc1.

Two copies of ChcN.4C.T:Zzzz\FLAG,T:Zzzz\TC rescues the lethality of Chc1 mutants.

One copy of ChcN.4C.T:Zzzz\FLAG,T:Zzzz\TC rescues the sterility, poor viability and locomotive defects of Chc1/Chc4 mutants.

Expression of either ChcScer\UAS.P\T.T:Avic\GFP-EGFP, ChcScer\UAS.P\T.T:SV5\V5 and ChcScer\UAS.P\T.T:Hsap\MYC under the control of Scer\GAL4Act.PU rescues the reduced viability and sterility of Chc1/Chc4 females, but does not rescue the lethality of Chc1 mutants.

Expression of ChcN.4C.T:Zzzz\FLAG,T:Zzzz\TC rescues the lethality seen in homozygous Chc1 mutants.

Expression of ChcC.4C.T:Zzzz\FLAG,T:Zzzz\TC does not rescue the lethality seen in homozygous Chc1 mutants.

Expression of Chc4C.T:Zzzz\FLAG,T:Zzzz\TC rescues the lethality associated with Chc1.

Images (0)
Mutant
Wild-type
Stocks (2)
Notes on Origin
Discoverer
External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (5)
References (24)