FlyBase Allele Report: Dmel\esc[1]

General Information

Symbol

Dmel\esc¹

Species

D. melanogaster

Name

FlyBase ID

FBal0003820

Feature type

allele

Associated gene

Dmel\esc

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

hypomorphic allele - genetic evidence

Mutagen

spontaneous

Nature of the Allele

Allele class

hypomorphic allele - genetic evidence

(Lindsley and Zimm, 1992)

Mutagen

spontaneous

(Gutjahr et al., 1995, Lindsley and Zimm, 1992)

Progenitor genotype

Cytology

Description

Amino acid replacement: L240R. Amino acid replacement: Y64F. Residue 240 is in the B element of the third WD-40 domain.

(Gutjahr et al., 1995)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

2L:11,828,973..11,828,973 [-]

Nucleotide change:

A11828973T

Amino acid change:

Y64F | esc-PA

Reported amino acid change:

Y64F

Comment:

One of two missense mutations in esc¹ mutant. Site of nucleotide substitution in mutant inferred by FlyBase based on reported amino acid change.

(Gutjahr et al., 1995)

point_mutation

2L:11,828,019..11,828,019 [-]

Nucleotide change:

T11828019G

Amino acid change:

L240R | esc-PA

Reported amino acid change:

L240R

Comment:

One of two esc missense mutations in esc¹ mutant. Missense at position 40 in the B element of the third WD-40 domain thought more likely to cause phenotype. Site of nucleotide substitution in mutant inferred by FlyBase based on reported amino acid change.

(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

sterile

(Lindsley and Zimm, 1992)

visible | cell autonomous | somatic clone

(Tokunaga and Stern, 1965)

Phenotype Manifest In

leg

(Lindsley and Zimm, 1992)

mesothoracic leg & sex comb tooth | ectopic

(Ragab, 2006)

metathoracic leg & sex comb tooth | ectopic

(Ragab, 2006)

metathoracic tibial transverse bristle row

(Lindsley and Zimm, 1992)

sex comb

(Lindsley and Zimm, 1992)

sex comb | cell autonomous | somatic clone

(Tokunaga and Stern, 1965)

Detailed Description

Statement

Reference

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 w^hd80k17 is used as the recipient allele bearing the target break site.

(Holmes et al., 2006)

Heterozygous males do not have ectopic sex combs on the second and third legs.

(Qi et al., 2006)

esc¹ males have ectopic sex combs on the second and third leg.

(Ragab, 2006)

Sex combs may be present on all six legs of male; at least one extra sex comb present in majority of males. Expression affected by culture conditions. When expressivity high, extra transverse bristle rows appear between sixth and eighth longitudinal rows of bristles, mainly on distal portion of basitarsus and tibia of third legs in both sexes and ectopic ones on the second legs; accompanied by shortening of affected leg segments. RK2.

(Lindsley and Zimm, 1992)

Sex comb development autonomous in mosaics produced by somatic crossing over.

(Tokunaga and Stern, 1965)

Interactions with Pc and Scr alleles are described.

(Hannah-Alava, 1958)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhancer of

Statement

Reference

esc¹/esc[+] is an enhancer of visible | dominant phenotype of gcm^Pyx

(Popkova et al., 2012)

NOT Enhancer of

Statement

Reference

esc¹/esc[+] is a non-enhancer of visible phenotype of E2f1^RNAi.UAS.cJa, Scer\GAL4^ptc-559.1

(Ji et al., 2012)

esc¹ is a non-enhancer of visible phenotype of BEAF-32^UAS.cYa, Scer\GAL4^GMR.PS

(Yamaguchi et al., 2001)

Suppressor of

Statement

Reference

esc¹/esc[+] is a suppressor | partially of visible phenotype of E2f1^RNAi.UAS.cJa, Scer\GAL4^GMR.PU

(Ji et al., 2012)

esc¹ is a suppressor of visible phenotype of Scer\GAL4^lz-gal4, sens^UAS.cNa

(Anderson et al., 2011)

NOT Suppressor of

Statement

Reference

esc¹/esc[+] is a non-suppressor of visible phenotype of E2f1^RNAi.UAS.cJa, Scer\GAL4^ptc-559.1

(Ji et al., 2012)

esc¹ is a non-suppressor of visible phenotype of BEAF-32^UAS.cYa, Scer\GAL4^GMR.PS

(Yamaguchi et al., 2001)

Phenotype Manifest In

Enhanced by

Statement

Reference

esc¹ has phenotype, enhanceable by E(Pc)¹

(Lindsley and Zimm, 1992)

NOT suppressed by

Statement

Reference

esc¹ has mesothoracic leg & sex comb tooth | ectopic phenotype, non-suppressible by Df(2R)ED3921

(Ragab, 2006)

esc¹ has metathoracic leg & sex comb tooth | ectopic phenotype, non-suppressible by Df(2R)ED3921

(Ragab, 2006)

Enhancer of

Statement

Reference

esc¹/esc[+] is an enhancer of chaeta | increased number phenotype of gcm^Pyx

(Popkova et al., 2012)

NOT Enhancer of

Statement

Reference

esc¹/esc[+] is a non-enhancer of first posterior wing cell phenotype of E2f1^RNAi.UAS.cJa, Scer\GAL4^ptc-559.1

(Ji et al., 2012)

esc¹ is a non-enhancer of eye phenotype of BEAF-32^UAS.cYa, Scer\GAL4^GMR.PS

(Yamaguchi et al., 2001)

Suppressor of

Statement

Reference

esc¹/esc[+] is a suppressor | partially of eye phenotype of E2f1^RNAi.UAS.cJa, Scer\GAL4^GMR.PU

(Ji et al., 2012)

esc¹ is a suppressor of eye phenotype of Scer\GAL4^lz-gal4, sens^UAS.cNa

(Anderson et al., 2011)

NOT Suppressor of

Statement

Reference

esc¹/esc[+] is a non-suppressor of first posterior wing cell phenotype of E2f1^RNAi.UAS.cJa, Scer\GAL4^ptc-559.1

(Ji et al., 2012)

esc¹ is a non-suppressor of eye phenotype of BEAF-32^UAS.cYa, Scer\GAL4^GMR.PS

(Yamaguchi et al., 2001)

Additional Comments

Genetic Interactions

Statement

Reference

The disorganised eye phenotype caused by expression of sens^Scer\UAS.cNa under the control of Scer\GAL4^lz-gal4 is suppressed by esc¹.

(Anderson et al., 2011)

rept⁰⁶⁹⁴⁵ does not show an ectopic sex comb phenotype in either the second or third legs in double heterozygous combination with esc¹.

MRG15^j6A3 does not show an ectopic sex comb phenotype in either the second or third legs in double heterozygous combination with esc¹.

MRG15^ex1 shows no interaction (in terms of ectopic sex comb phenotype) when in double heterozygous combination with esc¹.

(Qi et al., 2006)

Df(2R)ED3921 fails to suppress the ectopic sex comb phenotype of esc¹ mutants.

(Ragab, 2006)

Has little or no effect on the phenotype of E2f^GMR.PD Dp^GMR.PD BacA\p35^GMR.PH flies.

(Staehling-Hampton et al., 1999)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Comments

Images (0)

Mutant

Wild-type

Stocks (2)

Bloomington

813

In(2L)t, esc¹ c¹ speck¹/SM5

Kyoto

106085

In(2L)t, esc¹ c¹ speck¹/SM5

Notes on Origin

Discoverer

Slifer, 2th May 1940.

(Lindsley and Zimm, 1992)

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (1)

Reported As

Symbol Synonym

esc¹

(Ji et al., 2012, Anderson et al., 2011, Di Stefano et al., 2011, Rathke et al., 2007, Holmes et al., 2006, Qi et al., 2006, Hirose et al., 2001)

Name Synonyms

Secondary FlyBase IDs

References (18)

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