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General Information
Symbol
Dmel\E(spl)m8-HLH1
Species
D. melanogaster
Name
FlyBase ID
FBal0003323
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Also Known As
E(spl)D, E(spl)1
Mutagen
Nature of the Allele
Mutations Mapped to the Genome
 
Type
Location
Additional Notes
References
deletion
Comment:

The most prominent alteration in E(spl)m8-HLH1 is a 484 base deletion which removes the region encoding the final 56aa of the E(spl) gene, replacing them with 9 novel amino acids. E(spl)m8-HLH[1] also contains an upstream 84 bp deletion, some nucleotide exchanges, and two small insertions, one upstream of the gene and the other in the 3' UTR.

Associated Sequence Data
DNA sequence
Protein sequence
 
 
Progenitor genotype
Cytology

Polytene chromosomes normal.

Nature of the lesion
Statement
Reference

Deletion of the C-terminal domain and a putative regulatory element.

0.7-kb deletion in 12 to 14 kb; 5-kb insertion at 16.5 kb

Insertion components
P{lacZ}E(spl)m8-HLH1
Product class / Tool use(s)
Encoded product / tool
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
Phenotype Manifest In
Detailed Description
Statement
Reference

E(spl)m8-HLH1/E(spl)m8-HLH1 or E(spl)m8-HLH1/Df(3R)BSC751 mutant embryos do not display a significant difference in the number of Ap neurons, as compared with controls.

Heterozygous flies have a significantly increased density of microchaetae on the notum compared to controls.

The number and length of wing vein breaks increases with increasing temperature in homozygous flies.

Thickened vein mutant.

Enhances the eye phenotype of Nspl-1.

Individuals heterozygous for Bpt1 and heterozygous for E(spl)1 exhibit no Bpt1 phenotype.

E(spl)1/E(spl)rv1 heterozygotes show a homogeneous increase in chaetae density on the tergites.

Dominant phenotype increasing the number of microchaetae on the notum.

Homozygous flies have virtually normal eyes, with a very mild roughening at the rear of the eye.

Severe reduction in size of compound eye.

Strongly enhanced expression of "NAx" alleles.

P element construct carrying a wild type E(spl) gene copy can rescue the lethality of E(spl)1 with other E(spl) mutations.

Homozygotes displayed neural hypoplasia and enhancement of the Nspl-1 phenotype.

Most homozygotes display slight roughening of the eye. A few exhibit irregular epidermal defects and others show fusion of neighbouring denticle belts. E(spl)1 has complete penetrance in enhancing the Nspl-1 phenotype. During embryogenesis E(spl)1 behaves as a dominant allele with incomplete penetrance for cell death in neural primordia.

unique dominant allele

External Data
Interactions
Show genetic interaction network for Enhancers & Suppressors
Phenotypic Class
Enhanced by
Statement
Reference
NOT Enhanced by
Statement
Reference
Suppressed by
Statement
Reference

E(spl)[+]/E(spl)m8-HLH1, Nspl-1 has visible phenotype, suppressible by DlBE21/Dl[+]

E(spl)[+]/E(spl)m8-HLH1, Nspl-1 has visible phenotype, suppressible by DlBE35/Dl[+]

E(spl)[+]/E(spl)m8-HLH1, Nspl-1 has visible phenotype, suppressible by DlBX40/Dl[+]

E(spl)[+]/E(spl)m8-HLH1, Nspl-1 has visible phenotype, suppressible by Dl[+]/DlBX41

E(spl)[+]/E(spl)m8-HLH1, Nspl-1 has visible phenotype, suppressible by Dl[+]/DlBX43

E(spl)[+]/E(spl)m8-HLH1, Nspl-1 has visible phenotype, suppressible by DlBX45/Dl[+]

E(spl)[+]/E(spl)m8-HLH1, Nspl-1 has visible phenotype, suppressible by Dl[+]/DlBE23

E(spl)[+]/E(spl)m8-HLH1, Nspl-1 has visible phenotype, suppressible by DlBX46/Dl[+]

E(spl)[+]/E(spl)m8-HLH1, Nspl-1 has visible phenotype, suppressible by Dl[+]/DlCE21

E(spl)[+]/E(spl)m8-HLH1, Nspl-1 has visible phenotype, suppressible by DlCE23/Dl[+]

E(spl)[+]/E(spl)m8-HLH1, Nspl-1 has visible phenotype, suppressible by DlCE33/Dl[+]

E(spl)[+]/E(spl)m8-HLH1, Nspl-1 has visible phenotype, suppressible by DlCE34/Dl[+]

E(spl)[+]/E(spl)m8-HLH1, Nspl-1 has visible phenotype, suppressible by DlCE37/Dl[+]

E(spl)[+]/E(spl)m8-HLH1, Nspl-1 has visible phenotype, suppressible by Dl[+]/DlCE43

E(spl)[+]/E(spl)m8-HLH1, Nspl-1 has visible phenotype, suppressible by DlBE24/Dl[+]

E(spl)[+]/E(spl)m8-HLH1, Nspl-1 has visible phenotype, suppressible by DlBE26/Dl[+]

E(spl)[+]/E(spl)m8-HLH1, Nspl-1 has visible phenotype, suppressible by DlBE32/Dl[+]

NOT suppressed by
Statement
Reference

E(spl)[+]/E(spl)m8-HLH1, Nspl-1 has visible phenotype, non-suppressible by DlHD82/Dl[+]

Enhancer of
Statement
Reference

E(spl)m8-HLH1 is an enhancer of visible | dominant phenotype of Nspl-1

E(spl)[+]/E(spl)m8-HLH1 is an enhancer of visible phenotype of Nspl-1

Suppressor of
Statement
Reference

E(spl)m8-HLH1/E(spl)m8-HLH[+] is a suppressor of visible phenotype of Scer\GAL4Tub.PU, cswN308D.UASp

E(spl)m8-HLH1 is a suppressor | partially of lethal | recessive | heat sensitive phenotype of NAx-tsl

Other
Phenotype Manifest In
NOT Enhanced by
Statement
Reference

E(spl)m8-HLH1 has microchaeta & mesothoracic tergum phenotype, non-enhanceable by Hip1UAS.cMa/Scer\GAL4pnr-MD237

E(spl)m8-HLH1 has microchaeta & mesothoracic tergum phenotype, non-enhanceable by Scer\GAL4pnr-MD237/Hip1ΔANTH.UAS

Suppressed by
Statement
Reference

E(spl)[+]/E(spl)m8-HLH1, Nspl-1 has eye phenotype, suppressible by DlBE21/Dl[+]

E(spl)[+]/E(spl)m8-HLH1, Nspl-1 has eye phenotype, suppressible by DlBE35/Dl[+]

E(spl)[+]/E(spl)m8-HLH1, Nspl-1 has eye phenotype, suppressible by DlBX40/Dl[+]

E(spl)[+]/E(spl)m8-HLH1, Nspl-1 has eye phenotype, suppressible by Dl[+]/DlBX41

E(spl)[+]/E(spl)m8-HLH1, Nspl-1 has eye phenotype, suppressible by Dl[+]/DlBX43

E(spl)[+]/E(spl)m8-HLH1, Nspl-1 has eye phenotype, suppressible by DlBX45/Dl[+]

E(spl)[+]/E(spl)m8-HLH1, Nspl-1 has eye phenotype, suppressible by DlBX46/Dl[+]

E(spl)[+]/E(spl)m8-HLH1, Nspl-1 has eye phenotype, suppressible by Dl[+]/DlCE21

E(spl)[+]/E(spl)m8-HLH1, Nspl-1 has eye phenotype, suppressible by DlCE23/Dl[+]

E(spl)[+]/E(spl)m8-HLH1, Nspl-1 has eye phenotype, suppressible by DlCE33/Dl[+]

E(spl)[+]/E(spl)m8-HLH1, Nspl-1 has eye phenotype, suppressible by DlCE34/Dl[+]

E(spl)[+]/E(spl)m8-HLH1, Nspl-1 has eye phenotype, suppressible by Dl[+]/DlBE23

E(spl)[+]/E(spl)m8-HLH1, Nspl-1 has eye phenotype, suppressible by DlCE37/Dl[+]

E(spl)[+]/E(spl)m8-HLH1, Nspl-1 has eye phenotype, suppressible by Dl[+]/DlCE43

E(spl)[+]/E(spl)m8-HLH1, Nspl-1 has eye phenotype, suppressible by DlBE24/Dl[+]

E(spl)[+]/E(spl)m8-HLH1, Nspl-1 has eye phenotype, suppressible by DlBE26/Dl[+]

E(spl)[+]/E(spl)m8-HLH1, Nspl-1 has eye phenotype, suppressible by DlBE32/Dl[+]

NOT suppressed by
Statement
Reference

E(spl)m8-HLH1 has microchaeta & mesothoracic tergum phenotype, non-suppressible by Hip1UAS.cMa/Scer\GAL4pnr-MD237

E(spl)m8-HLH1 has microchaeta & mesothoracic tergum phenotype, non-suppressible by Scer\GAL4pnr-MD237/Hip1ΔANTH.UAS

E(spl)[+]/E(spl)m8-HLH1, Nspl-1 has eye phenotype, non-suppressible by DlHD82/Dl[+]

Enhancer of
Statement
Reference

E(spl)m8-HLH1 is an enhancer of wing vein phenotype of NAx-E2

E(spl)[+]/E(spl)m8-HLH1 is an enhancer of eye phenotype of Nnd-2

E(spl)[+]/E(spl)m8-HLH1 is an enhancer of eye phenotype of Nspl-1

NOT Enhancer of
Statement
Reference

E(spl)[+]/E(spl)m8-HLH1 is a non-enhancer of wing vein | ectopic phenotype of Snr1E1

Suppressor of
Statement
Reference

E(spl)m8-HLH1/E(spl)m8-HLH[+] is a suppressor of wing vein | ectopic phenotype of Scer\GAL4Tub.PU, cswN308D.UASp

E(spl)m8-HLH1 is a suppressor of macrochaeta phenotype of NAx-E2

E(spl)m8-HLH1 is a suppressor of wing vein phenotype of NAx-tsl

NOT Suppressor of
Statement
Reference

E(spl)[+]/E(spl)m8-HLH1 is a non-suppressor of wing vein | ectopic phenotype of Snr1E1

Other
Additional Comments
Genetic Interactions
Statement
Reference

Nspl-1/Y; E(spl)1/+ mutants exhibit a severely reduced eye. The residual eye field is highly disorganised; the clustering of the interommatidial bristles might well reflect facet loss.

The severe reduced eye found in Nspl-1/Y; E(spl)1/+ mutants is partially suppressed upon overexpression of E(spl)123-179.CtD.Scer\UAS immediately anterior to the morphogenetic furrow under the control of Scer\GAL4h-H10. Expression of E(spl)123-179.CtD.Scer\UAS not only increases eye size (facet numbers), but also restores the patterning of the facets. This patterning is, however, lost toward the anterior margin of the residual eye.

The severe reduced eye found in Nspl-1/Y; E(spl)1/+ mutants is unaffected by overexpression of E(spl)S159D.123-179.CtD.Scer\UAS under the control of Scer\GAL4h-H10.

Expression of E(spl)123-179.CtD.Scer\UAS in trans, in all cells posterior to the morphogenetic furrow, under the control of Scer\GAL4GMR.PF does not rescue the severe reduced eye phenotype found in Nspl-1/Y; E(spl)1/+ mutants. The absence of rescue is also supported by facet numbers, which upon expression of three independent E(spl)123-179.CtD.Scer\UAS lines closely mimics control levels in Nspl-1/Y; E(spl)1/+ mutants. Rescue of the Nspl-1/Y; E(spl)1/+ retinal defects by E(spl)123-179.CtD.Scer\UAS therefore requires expression in a region of the developing eye where funding R8 photoreceptors are patterned and specified.

Expression of either Hip1Scer\UAS.cMa or Hip1ΔANTH.Scer\UAS under the control of Scer\GAL4pnr-MD237 has no effect on the increased density of microchaetae on the notum seen in E(spl)1/+ flies.

CkIIαTik, E(spl)1 double mutant flies do not show ommatidial or interommatidial bristle defects.

Expression of one copy of CkIIαdsRNA.Scer\UAS under the control of one copy of Scer\GAL4sca-537.4 in an E(spl)1/+ background results in a split bristle phenotype, while this level of CkIIαdsRNA.Scer\UAS dosage is not sufficient to induce split bristles in a wild-type background.

E(spl)1/+, Nspl-1/Y flies have severely reduced eyes. They typically exhibit 4-8 residual ommatidia.

Has no effect on bristle phenotype of Nspl-1 but enhances the eye phenotype.

The variation of the number of missing bristles and number and length of wing vein breaks with temperature in NAx-1; E(spl)1 double mutants is the same as in E(spl)1 single mutants. The number of bristles is rescued almost to wild type in NAx-E2 ; E(spl)1 double mutants, while the number and length of wing vein breaks are higher in NAx-E2; E(spl)1 double mutants than in NAx-E2 single mutants. NAx-tsl homozygotes and hemizygotes do not survive at 29oC. NAx-tsl; E(spl)1 double mutants show semi-lethality at 29oC. The number and length of wing vein breaks are rescued to wild type in NAx-tsl; E(spl)1 double mutants.

Strong enhancer of the Nspl-1 phenotype; Nspl-1/Y E(spl)1/+ flies have a severely reduced compound eye with only 15-30 widely spaced facets. The ommatidia contain fewer photoreceptors than normal, and the rhabdomeres are often distorted. A large number of secondary pigment cells fill the space between the scattered photoreceptor cell clusters. Photoreceptor cell axons follow an aberrant course, and usually fail to enter the eye stalk. The pattern of cell proliferation is qualitatively normal in Nspl-1/Y E(spl)1/+ flies as assayed by BrdU incorporation. There is abundant cell death in the eye imaginal discs of these flies during the third instar larval stage, dead cells are more abundant behind the morphogenetic furrow.

No phenotypic interaction with NAx-E2 or Dl9P. Causes a rough eye phenotype when heterozygous with Nnd-2, more severe at room temperature.

Xenogenetic Interactions
Statement
Reference
Complementation and Rescue Data
Comments

The severe reduced eye found in Nspl-1/Y; E(spl)1/+ mutants is partially suppressed upon overexpression of E(spl)123-179.CtD.Scer\UAS immediately anterior to the morphogenetic furrow under the control of Scer\GAL4h-H10. Expression of E(spl)123-179.CtD.Scer\UAS not only increases eye size (facet numbers), but also restores the patterning of the facets. This patterning is, however, lost toward the anterior margin of the residual eye.

The severe reduced eye found in Nspl-1/Y; E(spl)1/+ mutants is unaffected by overexpression of E(spl)S159D.123-179.CtD.Scer\UAS under the control of Scer\GAL4h-H10.

Expression of E(spl)123-179.CtD.Scer\UAS in trans, in all cells posterior to the morphogenetic furrow, under the control of Scer\GAL4GMR.PF does not rescue the severe reduced eye phenotype found in Nspl-1/Y; E(spl)1/+ mutants. The absence of rescue is also supported by facet numbers, which upon expression of three independent E(spl)123-179.CtD.Scer\UAS lines closely mimics control levels in Nspl-1/Y; E(spl)1/+ mutants. Rescue of the Nspl-1/Y; E(spl)1/+ retinal defects by E(spl)123-179.CtD.Scer\UAS therefore requires expression in a region of the developing eye where funding R8 photoreceptors are patterned and specified.

Images (0)
Mutant
Wild-type
Stocks (2)
Notes on Origin
Discoverer

Green.

Comments
Comments

Chromosome carries two molecular lesions: 6.4kb insertion in the third intron of gro (groE(spl)-1) and a small deletion truncating the adjacent E(spl) transcript at the 3' end (E(spl)1).

External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (6)
References (43)