FlyBase Allele Report: Dmel\Chc[4]

General Information

Symbol

Dmel\Chc⁴

Species

D. melanogaster

Name

FlyBase ID

FBal0020040

Feature type

allele

Associated gene

Dmel\Chc

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

(Katzen and Bishop, 1996, Bazinet et al., 1993, Katzen, 1990)

Progenitor genotype

Cytology

Description

Amino acid replacement: A1082T.

(Peralta et al., 2009)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

X:15,830,260..15,830,260 [-]

Nucleotide change:

G15830260A

Amino acid change:

Reported amino acid change:

A1082T

Comment:

Site of nucleotide substitution in mutant inferred by FlyBase based on reported amino acid change.

(Peralta et al., 2009)

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 ( 1 )

Disease

Interaction

References

exacerbates tauopathy

modeled by Hsap\MAPT^R406W.UAS

(Merlo et al., 2014)

Comments on Models/Modifiers Based on Experimental Evidence ( 0 )

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

Phenotype Manifest In

Detailed Description

Statement

Reference

Mutant egg chambers show defects in microtubule organisation in the oocyte.

(Vazquez-Pianzola et al., 2014)

Chc⁴ mutant larval garland cells are defective in endocytosis.

Chc⁴ mutant pupal eyes show extra interommatidial pigment cells and misplaced interommatidial bristles. The normal number of photoreceptors, cone cells, and primary pigment cells is observed.

The retina of young Chc⁴ adult mutant eyes is highly disorganised. Gaps are observed between the ommatidia, and dying cells are observed. Adults kept in the dark for two weeks show mutant retina completely devoid of interommatidial pigment cells. The photoreceptor neurons are still present in the ommatidia and have well-formed rhabdomeres.

Wings from Chc⁴ mutants display normal morphology.

(Peralta et al., 2009)

The neuromuscular junctions of homozygous Chc⁴ 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.

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.

(Kasprowicz et al., 2008)

Mutant testes show numerous elongated cysts but a complete absence of motile sperm. No mature individualised sperm are distinguishable. Morphology suggests a large variation in the width of sperm tails or failure of individualisation. Sperm tails show numerous bulges or blebs. Pre-individualized spermatogenic cysts are evident, though with fewer (40 as opposed to 64) axonemes than for wild type. Mature mutant cysts appear disorganised, in cross section. Extensive amounts of ground substance remains between the (otherwise quite mature) spermatids, and it is irregularly distributed. Mitochondrial derivatives (usually the minor one) are grossly distended. The cytoplasm between the mutant sperm tails is highly disorganised with a complex network of membranous tubules. Individualisation fails. Individualisation complexes are disorganised and spermatid nuclei are scattered.

(Fabrizio et al., 1998)

Partial loss of function allele with a semi-dominant effect on viability; more males are produced at 21^oC or lower.

(Bazinet, 1997.10.3)

Some adult escapers. Germline clones are viable. Hemizygous males are sterile, fertility can be restored by introduction of the construct P{CHC3}.

(Bazinet et al., 1993)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

Chc⁴ has increased cell death phenotype, enhanceable by Scer\GAL4^LL54/N^FLN.UAS

(Peralta et al., 2009)

Suppressed by

Statement

Reference

Chc⁴ has increased cell death phenotype, suppressible by N^l1N-ts1

(Peralta et al., 2009)

Chc⁴ has increased cell death phenotype, suppressible by N^fa-g62

(Peralta et al., 2009)

Chc⁴ has increased cell death phenotype, suppressible by N^ECN.UAS/Scer\GAL4^LL54

(Peralta et al., 2009)

Enhancer of

Statement

Reference

Chc⁴ is an enhancer of increased cell death phenotype of Hsap\MAPT^R406W.UAS, Scer\GAL4^elav.PLu

(Merlo et al., 2014)

Chc⁴ is an enhancer of abnormal mitotic cell cycle phenotype of Hsap\MAPT^R406W.UAS, Scer\GAL4^elav.PLu

(Merlo et al., 2014)

Chc[+]/Chc⁴ is an enhancer of visible phenotype of lqf^{glrs.Tag:FLAG}

(Eun et al., 2007)

Chc[+]/Chc⁴ is an enhancer of visible | recessive phenotype of lqf^FDD9

(Cadavid et al., 2000)

Chc⁴ is an enhancer of visible phenotype of faf^BX3

(Cadavid et al., 2000)

Chc[+]/Chc⁴ is an enhancer of visible | recessive phenotype of faf^BX3, lqf^bE25

(Cadavid et al., 2000)

Chc[+]/Chc⁴ is an enhancer of visible phenotype of faf^BX3, lqf^bE25

(Cadavid et al., 2000)

Phenotype Manifest In

Enhanced by

Statement

Reference

Chc⁴ has secondary pigment cell phenotype, enhanceable by Scer\GAL4^LL54/N^FLN.UAS

(Peralta et al., 2009)

Chc⁴ has tertiary pigment cell phenotype, enhanceable by Scer\GAL4^LL54/N^FLN.UAS

(Peralta et al., 2009)

Suppressed by

Statement

Reference

Chc⁴ has secondary pigment cell phenotype, suppressible by N^l1N-ts1

(Peralta et al., 2009)

Chc⁴ has tertiary pigment cell phenotype, suppressible by N^l1N-ts1

(Peralta et al., 2009)

Chc⁴ has secondary pigment cell phenotype, suppressible by N^fa-g62

(Peralta et al., 2009)

Chc⁴ has tertiary pigment cell phenotype, suppressible by N^fa-g62

(Peralta et al., 2009)

Chc⁴ has secondary pigment cell phenotype, suppressible by N^ECN.UAS/Scer\GAL4^LL54

(Peralta et al., 2009)

Chc⁴ has tertiary pigment cell phenotype, suppressible by N^ECN.UAS/Scer\GAL4^LL54

(Peralta et al., 2009)

Enhancer of

Statement

Reference

Chc⁴ is an enhancer of wing margin phenotype of N^nd-3

(Peralta et al., 2009)

Chc⁴ is an enhancer of wing vein phenotype of N^nd-3

(Peralta et al., 2009)

Chc⁴ is an enhancer of wing cell phenotype of N^nd-3

(Peralta et al., 2009)

Chc[+]/Chc⁴ is an enhancer of eye phenotype of lqf^{glrs.Tag:FLAG}

(Eun et al., 2007)

Chc[+]/Chc⁴ is an enhancer of eye phenotype of lqf^FDD9

(Cadavid et al., 2000)

Chc[+]/Chc⁴ is an enhancer of wing phenotype of faf^BX3, lqf^bE25

(Cadavid et al., 2000)

Chc[+]/Chc⁴ is an enhancer of eye phenotype of faf^BX3, lqf^bE25

(Cadavid et al., 2000)

NOT Enhancer of

Statement

Reference

Chc⁴ is a non-enhancer of phenotype of faf^FO8

(Cadavid et al., 2000)

Additional Comments

Genetic Interactions

Statement

Reference

The retinal disorganisation and interommatidial pigment cell death observed in Chc⁴ mutant flies is suppressed in animals carrying a mutation in N^l1N-ts1 (when animals are grown at 18[o]C and then shifted to 31[o]C (once 40% through pupal development) for 6 hours).

The retinal disorganisation and interommatidial pigment cell death observed in Chc⁴ mutant flies is suppressed by N^fa-g62.

Expression of N^FLN.Scer\UAS in the eye under the control of Scer\GAL4^LL54 enhances the interommatidial cell death observed in Chc⁴ mutant eyes.

Expression of N^ECN.Scer\UAS in the eye under the control of Scer\GAL4^LL54 completely suppresses the interommatidial cell death phenotype observed in Chc⁴ mutant flies.

Chc⁴/+ suppresses the notch-wing phenotype of Df(1)N-54l9/+ females. The L3 and L5 wing veins are thinner, deltas are less evident, and only 25% of the wings display smaller notches compared to 75% of Df(1)N-54l9/+ wings.

Chc⁴, N^nd-3 double hemizygous mutants display an enhanced wing phenotype compared to N^nd-3 single mutant wings. Loss of a great part of the wing surface and margin to extensive notches is observed, and loss of intervein tissue to vein overgrowth.

(Peralta et al., 2009)

The eye defects of lqf^FDD9 homozygotes are dominantly enhanced by Chc⁴. The faf^BX3/faf^FO8 phenotype is not enhanced by Chc⁴. The lqf^bE25 faf^BX3/faf^BX3 mutant phenotype is dominantly enhanced by Chc⁴.