FlyBase Allele Report: Dmel\esc[6]

General Information

Symbol

Dmel\esc⁶

Species

D. melanogaster

Name

FlyBase ID

FBal0003826

Feature type

allele

Associated gene

Dmel\esc

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

amorphic allele - genetic evidence

Mutagen

Nature of the Allele

Allele class

amorphic allele - genetic evidence

(Gutjahr et al., 1995, Gould et al., 1990)

Mutagen

Progenitor genotype

Cytology

Description

One point mutation causing failure to splice the first intron.

(Gutjahr et al., 1995)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

2L:11,829,174..11,829,174 [-]

Nucleotide change:

T11829174A

Comment:

Mutation in splice donor causes failure to splice and early truncation of CDS.

(Gutjahr et al., 1995)

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

lethal - all die during embryonic stage | recessive

(Simon et al., 1992)

radiation resistant | dominant

(Holmes et al., 2006)

some die during embryonic stage | recessive

(Simon et al., 1992)

visible (with esc^F77A.Tag:MYC)

(Margueron et al., 2009)

visible (with esc^{F345A.Tag:MYC})

(Margueron et al., 2009)

visible | homeotic

(Klymenko and Muller, 2004)

Phenotype Manifest In

embryonic/first instar larval cuticle

(Klymenko and Muller, 2004)

embryonic segment

(Simon et al., 1992)

sex comb (with esc^F77A.Tag:MYC)

(Margueron et al., 2009)

sex comb (with esc^{F345A.Tag:MYC})

(Margueron et al., 2009)

Detailed Description

Statement

Reference

esc^{F77A.T:Hsap\MYC} fails to rescue the extra sex comb phenotype of esc⁶.

esc^{F345A.T:Hsap\MYC} fails to rescue the extra sex comb phenotype of esc⁶.

(Margueron et al., 2009)

Flies heterozygous for esc⁶ but carrying an esc[+] transgene on the balancer chromosome (which provides maternal esc[+] function) give rise to a high proportion of homozygous esc⁶/esc⁶ progeny that survive to adulthood in the absence of zygotic esc[+]. These adults are nearly normal except for a high incidence of extra sex combs on all three pairs of legs of males. The female progeny are sterile.

(Ohno et al., 2008)

Heterozygotes show a significant increase in double strand break (DSB) repair via homologous recombination and a corresponding decrease in DSB repair by nonhomologous end-joining compared to controls in a somatic DSB repair assay, when either w^hd80k17 or w^hd-y+ is used as the recipient allele bearing the target break site.

The genome of esc⁶/+ flies appears to be significantly more stable following exposure to irradiation (seen as induction of fewer bristles with a Minute phenotype) compared to control flies.

Heterozygous wing discs show an approximately twofold reduction in radiation-induced apoptosis compared to controls.

Heterozygotes show an increased survival rate following irradiation compared to control animals.

(Holmes et al., 2006)

Cuticles of esc⁶ mutant clone larvae show complete homeotic transformation of all segments into copies of the eight abdominal segment and are indistinguishable from Scm^D1 trx^E2 double and Scm^D1 single mutants.

(Klymenko and Muller, 2004)

Ectopic Abd-B appears at 6 hours as far forward as parasegment 3, Abd-B accumulates in the posterior so that at 9 hours a uniform distribution is seen in epidermal cells. Consequently all the segments to be transformed into the normal eighth adult abdominal segment.

(Simon et al., 1992)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

esc⁶ has visible | homeotic phenotype, suppressible by trx^E2

(Klymenko and Muller, 2004)

Other

Statement

Reference

esc⁶, escl^d01514 has lethal | P-stage phenotype

(Margueron et al., 2009)

esc⁶/esc^F77A.Tag:MYC, escl^d01514 has lethal | P-stage phenotype

(Margueron et al., 2009)

esc⁶/esc^{F345A.Tag:MYC}, escl^d01514 has lethal | P-stage phenotype

(Margueron et al., 2009)

esc⁶, escl^{inc.esc.Tag:FLAG} has viable phenotype

(Ohno et al., 2008)

esc⁶, escl^d01514 has abnormal developmental rate | third instar larval stage phenotype

(Ohno et al., 2008)

esc⁶, escl^d01514/escl[+] has visible | recessive | homeotic phenotype

(Ohno et al., 2008)

esc⁶, escl^{inc.esc.Tag:FLAG} has female fertile phenotype

(Ohno et al., 2008)

esc⁶, escl^{sp.esc.Tag:FLAG} has viable phenotype

(Ohno et al., 2008)

esc⁶, escl^{sp.esc.Tag:FLAG} has female fertile phenotype

(Ohno et al., 2008)

esc⁶, escl^{inc.Act.Tag:FLAG} has viable phenotype

(Ohno et al., 2008)

esc⁶, escl^{inc.Act.Tag:FLAG} has female sterile phenotype

(Ohno et al., 2008)

esc⁶, escl^sp.Tag:FLAG has viable phenotype

(Ohno et al., 2008)

esc⁶, escl^sp.Tag:FLAG has female fertile phenotype

(Ohno et al., 2008)

esc⁶, escl^d01514 has lethal | recessive | pupal stage phenotype

(Ohno et al., 2008)

Phenotype Manifest In

Enhanced by

Statement

Reference

esc⁶ has leg phenotype, enhanceable by Mmus\Eed^F6.αTub84B

(Wang et al., 2000)

esc⁶ has embryonic thoracic segment phenotype, enhanceable by Mmus\Eed^F6.αTub84B

(Wang et al., 2000)

esc⁶ has embryonic maxillary segment | ectopic phenotype, enhanceable by Mmus\Eed^F6.αTub84B

(Wang et al., 2000)

esc⁶ has embryonic procephalic segment | ectopic phenotype, enhanceable by Mmus\Eed^F6.αTub84B

(Wang et al., 2000)

esc⁶ has leg phenotype, enhanceable by Mmus\Eed^hs.PW

(Wang et al., 2000)

esc⁶ has embryonic thoracic segment phenotype, enhanceable by Mmus\Eed^hs.PW

(Wang et al., 2000)

esc⁶ has embryonic abdominal segment 1 phenotype, enhanceable by Mmus\Eed^hs.PW

(Wang et al., 2000)

esc⁶ has embryonic abdominal segment 2 phenotype, enhanceable by Mmus\Eed^hs.PW

(Wang et al., 2000)

esc⁶ has embryonic abdominal segment 3 phenotype, enhanceable by Mmus\Eed^hs.PW

(Wang et al., 2000)

esc⁶ has embryonic abdominal segment 4 phenotype, enhanceable by Mmus\Eed^hs.PW

(Wang et al., 2000)

esc⁶ has embryonic abdominal segment 5 phenotype, enhanceable by Mmus\Eed^hs.PW

(Wang et al., 2000)

esc⁶ has embryonic abdominal segment 6 phenotype, enhanceable by Mmus\Eed^hs.PW

(Wang et al., 2000)

esc⁶ has embryonic abdominal segment 1 phenotype, enhanceable by Mmus\Eed^F6.αTub84B

(Wang et al., 2000)

esc⁶ has embryonic abdominal segment 7 phenotype, enhanceable by Mmus\Eed^hs.PW

(Wang et al., 2000)

esc⁶ has embryonic abdominal segment 8 | ectopic phenotype, enhanceable by Mmus\Eed^hs.PW

(Wang et al., 2000)

esc⁶ has embryonic maxillary segment | ectopic phenotype, enhanceable by Mmus\Eed^hs.PW

(Wang et al., 2000)

esc⁶ has embryonic procephalic segment | ectopic phenotype, enhanceable by Mmus\Eed^hs.PW

(Wang et al., 2000)

esc⁶ has embryonic abdominal segment 2 phenotype, enhanceable by Mmus\Eed^F6.αTub84B

(Wang et al., 2000)

esc⁶ has embryonic abdominal segment 3 phenotype, enhanceable by Mmus\Eed^F6.αTub84B

(Wang et al., 2000)

esc⁶ has embryonic abdominal segment 4 phenotype, enhanceable by Mmus\Eed^F6.αTub84B

(Wang et al., 2000)

esc⁶ has embryonic abdominal segment 5 phenotype, enhanceable by Mmus\Eed^F6.αTub84B

(Wang et al., 2000)

esc⁶ has embryonic abdominal segment 6 phenotype, enhanceable by Mmus\Eed^F6.αTub84B

(Wang et al., 2000)

esc⁶ has embryonic abdominal segment 7 phenotype, enhanceable by Mmus\Eed^F6.αTub84B

(Wang et al., 2000)

esc⁶ has embryonic abdominal segment 8 | ectopic phenotype, enhanceable by Mmus\Eed^F6.αTub84B

(Wang et al., 2000)

Suppressed by

Statement

Reference

esc⁶ has embryonic/first instar larval cuticle phenotype, suppressible by trx^E2

(Klymenko and Muller, 2004)

Other

Statement

Reference

esc⁶, escl^d01514 has imaginal disc phenotype

(Margueron et al., 2009)

esc⁶, escl^d01514 has brain phenotype

(Margueron et al., 2009)

esc⁶, escl^{inc.esc.Tag:FLAG} has sex comb | ectopic phenotype

(Ohno et al., 2008)

esc⁶, escl^d01514 has haltere disc phenotype

(Ohno et al., 2008)

esc⁶, escl^d01514/escl[+] has sex comb | ectopic phenotype

(Ohno et al., 2008)

esc⁶, escl^d01514/escl[+] has wing phenotype

(Ohno et al., 2008)

esc⁶, escl^d01514/escl[+] has leg | ectopic phenotype

(Ohno et al., 2008)

esc⁶, escl^d01514/escl[+] has antenna phenotype

(Ohno et al., 2008)

esc⁶, escl^d01514/escl[+] has adult abdominal segment 4 phenotype

(Ohno et al., 2008)

esc⁶, escl^d01514/escl[+] has adult abdominal segment 5 | ectopic phenotype

(Ohno et al., 2008)

esc⁶, escl^d01514/escl[+] has haltere | ectopic phenotype

(Ohno et al., 2008)

esc⁶, escl^sp.Tag:FLAG has sex comb | ectopic phenotype

(Ohno et al., 2008)

esc⁶, escl^d01514 has wing disc phenotype

(Ohno et al., 2008)

esc⁶, escl^d01514 has eye disc phenotype

(Ohno et al., 2008)

esc⁶, escl^d01514 has embryonic/larval optic lobe phenotype

(Ohno et al., 2008)

Additional Comments

Genetic Interactions

Statement

Reference

Flies zygotically mutant for both esc⁶ and escl^d01514 produce larvae with poorly developed brain and imaginal discs, which die when they pupate.

The lethality of esc⁶, escl^d01514 double mutants is completely rescued by esc^T:Hsap\MYC.

The lethality of esc⁶, escl^d01514 double mutants is not rescued by esc^{F77A.T:Hsap\MYC}, although the brain and imaginal disc phenotypes are alleviated by esc^{F77A.T:Hsap\MYC}.

The lethality of esc⁶, escl^d01514 double mutants is not rescued by esc^{F345A.T:Hsap\MYC}.

(Margueron et al., 2009)

The presence of escl^{sp.esc.T:Zzzz\FLAG} permits the recovery of adult progeny in a homozygous esc⁶ stock. The rescued females are fertile and the rescued males do not have extra sex combs on their legs.

The presence of escl^{inc.esc.T:Zzzz\FLAG} or escl^{sp.T:Zzzz\FLAG} permits the recovery of adult progeny in a homozygous esc⁶ stock. The rescued homozygous females are fertile, while the rescued males have extra sex combs on their legs.

The presence of escl^{inc.Act.T:Zzzz\FLAG} permits the recovery of adult progeny in a homozygous esc⁶ stock. The rescued males do not have extra sex combs on their legs, but the rescued females are sterile.

Homozygous esc⁶ escl^d01514 double mutants which have received maternal esc[+] function (as the female parents carry an esc[+] transgene on a balancer chromosome) survive through a prolonged third larval instar and die as early pupae. The double mutant larvae grow slowly. They have very small haltere and wing imaginal discs and the eye part of the eye-antenna disc is reduced in size, while the leg discs are nearly normal in size. The abdominal ganglia of the central nervous system are nearly normal in size in the double mutant larvae, but the optic lobes are approximately half normal diameter.

Adult flies that are homozygous for escl^d01514 but heterozygous for esc⁶ are viable, fertile and appear normal.

Adult flies that are homozygous for esc⁶ and heterozygous for escl^d01514 are few and very weak. They display a range of homeotic phenotypes, including transformations of antenna to leg, wing to haltere and A4 to A5, as well as having extra sex combs on the leg in males.

(Ohno et al., 2008)

trx^E2 esc⁶ double mutants show partial suppression of homeotic transformations in embryonic/first instar larval cuticle (i.e. thoracic denticle belts are comparable to those found in wild-type embryos), but the head is abnormal and abdominal segments are still partly transformed towards the eighth abdominal segment.

(Klymenko and Muller, 2004)

Xenogenetic Interactions

Statement

Reference

The addition of Mmus\eed^F6.αTub84B or Mmus\eed^hs.PW to esc⁶/esc² males causes an enhancement of the leg transformation phenotype seen in esc⁶/esc² alone. The maternal effect embryonic lethality and transformation phenotypes seen embryos laid by esc⁶/esc² mothers is not rescued by the addition of Mmus\eed^F6.αTub84B or Mmus\eed^hs.PW. In these embryos, all three thoracic and the first seven abdominal segments are transformed to the eight abdominal segment identity. In addition, the head fails to undergo involution and two additional segments, maxillary segment and cephalic segment can be seen.