FlyBase Allele Report: Dmel\up[101]

General Information

Symbol

Dmel\up¹⁰¹

Species

D. melanogaster

Name

FlyBase ID

FBal0017630

Feature type

allele

Associated gene

Dmel\up

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

Progenitor genotype

Cytology

Description

Amino acid replacement: E88K. Nucleotide substitution: G?A.

(Fyrberg et al., 1990)

Glu88>Lys88 ^GAG>AAG

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

X:13,596,576..13,596,576 [-]

Nucleotide change:

G13596576A

Reported nucleotide change:

GAG?AAG

Amino acid change:

Reported amino acid change:

E88K

Comment:

Position of mutation on reference sequence inferred by FlyBase curator based on author statement. See FBrf0052459 figure 3 for protein sequence numbering.

(Fyrberg et al., 1990)

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 ( 1 )

Disease

Evidence

References

model of cardiomyopathy

CEA

(Gautam et al., 2015, Cozhimuttam Viswanathan et al., 2014, Naimi et al., 2001)

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

Phenotype Manifest In

adult thorax

(Fekete and Szidonya, 1979)

flight muscle cell

(Fekete and Szidonya, 1979)

indirect flight muscle cell

(Gautam et al., 2015, Nongthomba et al., 2003, Naimi et al., 2001)

mitochondrion & flight muscle

(Fekete and Szidonya, 1979)

pupal cuticle

(Fekete and Szidonya, 1979)

sarcomere | adult stage

(Fyrberg et al., 1990)

wing

(Nongthomba et al., 2003, Naimi et al., 2001, Fekete and Szidonya, 1979)

Detailed Description

Statement

Reference

Raman spectroscopy reveals that, as flies age, up¹⁰¹ mutant muscles show signs of denaturation and overall decay in protein levels, which is not observed in wild-type controls.

(Gautam et al., 2015)

Homozygous border cell clones show normal migration.

(Borghese et al., 2006)

The thick and thin filaments of the indirect flight muscles of hemizygous animals are normal before 78 hours after puparium formation (APF), but are hypercontracted after 78 hours APF. 86% of hemizygous male adults have an upheld wing phenotype, 6% have their wings held down and 8% hold their wings in the normal position. 88% of the indirect flight muscle fibres of hemizygous male adults are hypercontracted, 12% show a partial hypercontraction phenotype.

(Nongthomba et al., 2003)

Homozygotes show a 90% penetrant wings-up phenotype and a 100% penetrant indirect flight muscle (IFM) hypercontraction phenotype. Adult flies walk more slowly than wild type, this difference increasing with age.

(Naimi et al., 2001)

Myofibril structure appears normal prior to the onset of flight-muscle contraction in homozygous pupae, however, after the fly ecloses sarcomeric structure rapidly degenerates.

(Fyrberg et al., 1990)

Normal electroretinogram.

(Homyk and Pye, 1989)

Homozygotes are flightless. Newly eclosed flies have a normal wing posture but develop an abnormal wing posture during the first 24 hours after eclosion.

(Homyk and Emerson, 1988)

up¹⁰¹ mutants keep their wings in an abnormal fixed up or down position and are unable to fly. Flies that show the "wings-down" position often also have an indented thorax. The wing position and flightlessness phenotypes are not temperature sensitive but the following phenotypes are more pronounced at 29^oC than at 22^oC: delayed development, a shortened pupal case and an indented thorax.

The up¹⁰¹ fibrillar flight muscle shows a complete lack of regularity in the arrangement of the fibrils and the striation pattern is hardly recognizable. The mitochondria of the distrophic muscles are swollen and have very few lamellae compared to wild-type muscle mitochondria.

(Fekete and Szidonya, 1979)

Although allele previously reported as semidominant for flightlessness (Homyk et al., 1980), heterozygotes found to be able to hop and fly about as well as wild type (Fekete and Szidonya, 1979; Homyk and Emerson, 1988). homozygote with abnormal wing phenotype heterozygote wing phenotype normal homozygote unable to fly heterozygote able to fly

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

up¹⁰¹ has visible phenotype, suppressible by Mhc[+]/Mhc^2B

(Nongthomba et al., 2003)

up¹⁰¹ has visible phenotype, suppressible by Mhc^2D/Mhc^2D

(Nongthomba et al., 2003)

up¹⁰¹ has visible phenotype, suppressible by Mhc[+]/Mhc^D62

(Nongthomba et al., 2003)

up¹⁰¹ has visible phenotype, suppressible by Mhc[+]/Mhc^2D

(Nongthomba et al., 2003)

up¹⁰¹ has visible phenotype, suppressible by Mhc[+]/Mhc^2F

(Nongthomba et al., 2003)

up¹⁰¹ has visible phenotype, suppressible by Mhc^D1/Mhc[+]

(Nongthomba et al., 2003)

up¹⁰¹ has visible phenotype, suppressible by Mhc[+]/Mhc^D41

(Nongthomba et al., 2003)

up¹⁰¹ has visible phenotype, suppressible by Mhc[+]/Mhc^D45

(Nongthomba et al., 2003)

up¹⁰¹ has abnormal locomotor behavior phenotype, suppressible by Tm2^D53/Tm2[+]

(Naimi et al., 2001)

NOT suppressed by

Statement

Reference

up¹⁰¹ has flightless phenotype, non-suppressible by Mhc[+]/Mhc^{R57-24.Act88F}

(Nongthomba et al., 2003)

up¹⁰¹ has visible phenotype, non-suppressible by Mhc[+]/Mhc¹⁰

(Nongthomba et al., 2003)

up¹⁰¹ has visible phenotype, non-suppressible by Mhc[+]/Mhc^{R57-24.Act88F}

(Nongthomba et al., 2003)

up¹⁰¹ has flightless phenotype, non-suppressible by Mhc[+]/Mhc¹⁰

(Nongthomba et al., 2003)

Suppressor of

Statement

Reference

up¹⁰¹ is a suppressor of flightless phenotype of Act88F⁶, Act88F^D292V

(Sevdali et al., 2013)

Other

Statement

Reference

up¹⁰¹, fliH[+]/wupA^fliH has flightless phenotype

(Firdaus et al., 2015)

Mhc^S1, up¹⁰¹ has lethal phenotype

(Montana and Littleton, 2004)

Mhc^S2, up¹⁰¹ has lethal phenotype

(Montana and Littleton, 2004)

up¹⁰¹, wupA^hdp-2 has visible phenotype

(Nongthomba et al., 2003)

up¹⁰¹, wupA^hdp-2 has flightless phenotype

(Nongthomba et al., 2003)

Mhc^D1/Mhc[+], up¹⁰¹ has abnormal flight phenotype

(Nongthomba et al., 2003)

Mhc[+]/Mhc^D41, up¹⁰¹ has abnormal flight phenotype

(Nongthomba et al., 2003)

Mhc[+]/Mhc^D45, up¹⁰¹ has abnormal flight phenotype

(Nongthomba et al., 2003)

Mhc[+]/Mhc^D62, up¹⁰¹ has abnormal flight phenotype

(Nongthomba et al., 2003)

Mhc^D1, up¹⁰¹ has abnormal flight phenotype

(Nongthomba et al., 2003)

Mhc^D41, up¹⁰¹ has abnormal flight phenotype

(Nongthomba et al., 2003)

Mhc^D45, up¹⁰¹ has abnormal flight phenotype

(Nongthomba et al., 2003)

Mhc^D62, up¹⁰¹ has abnormal flight phenotype

(Nongthomba et al., 2003)

Tm2^D53, up¹⁰¹ has flightless phenotype

(Naimi et al., 2001)

Tm2^D53/Tm2[+], up¹⁰¹ has flightless phenotype

(Naimi et al., 2001)

Act88F⁸, up¹⁰¹ has visible | dominant | cold sensitive phenotype

(Homyk and Emerson, 1988)

rsd¹, up¹⁰¹ has visible | dominant | cold sensitive phenotype

(Homyk and Emerson, 1988)

up¹⁰¹, wupA^hdp-2 has visible | dominant phenotype

(Homyk and Emerson, 1988)

Mhc⁵, up¹⁰¹ has visible | dominant phenotype

(Homyk and Emerson, 1988)

up¹⁰¹, wupA^hdp-2 has flightless | dominant phenotype

(Homyk and Emerson, 1988)

Act88F⁸, rsd¹, up¹⁰¹ has visible | dominant phenotype

(Homyk and Emerson, 1988)

Mhc⁵, up¹⁰¹ has flightless | dominant phenotype

(Homyk and Emerson, 1988)

Mhc⁶, up¹⁰¹ has flightless | dominant phenotype

(Homyk and Emerson, 1988)

Mhc⁸, up¹⁰¹ has lethal | dominant phenotype

(Homyk and Emerson, 1988)

Phenotype Manifest In

Suppressed by

Statement

Reference

up¹⁰¹ has indirect flight muscle cell phenotype, suppressible by Mhc[+]/Mhc^2B

(Nongthomba et al., 2003)

up¹⁰¹ has indirect flight muscle cell phenotype, suppressible by Mhc^2D/Mhc^2D

(Nongthomba et al., 2003)

up¹⁰¹ has indirect flight muscle cell phenotype, suppressible by Mhc[+]/Mhc^2F

(Nongthomba et al., 2003)

up¹⁰¹ has indirect flight muscle cell phenotype, suppressible by Mhc^D1/Mhc[+]

(Nongthomba et al., 2003)

up¹⁰¹ has indirect flight muscle cell phenotype, suppressible by Mhc[+]/Mhc^D41

(Nongthomba et al., 2003)

up¹⁰¹ has indirect flight muscle cell phenotype, suppressible by Mhc[+]/Mhc^D45

(Nongthomba et al., 2003)

up¹⁰¹ has indirect flight muscle cell phenotype, suppressible by Mhc[+]/Mhc^D62

(Nongthomba et al., 2003)

up¹⁰¹ has indirect flight muscle cell phenotype, suppressible by Mhc[+]/Mhc^2D

(Nongthomba et al., 2003)

up¹⁰¹ has wing phenotype, suppressible by Mhc[+]/Mhc^2B

(Nongthomba et al., 2003)

up¹⁰¹ has wing phenotype, suppressible by Mhc^2D/Mhc^2D

(Nongthomba et al., 2003)

up¹⁰¹ has wing phenotype, suppressible by Mhc[+]/Mhc^D62

(Nongthomba et al., 2003)

up¹⁰¹ has wing phenotype, suppressible by Mhc[+]/Mhc^2D

(Nongthomba et al., 2003)

up¹⁰¹ has wing phenotype, suppressible by Mhc[+]/Mhc^2F

(Nongthomba et al., 2003)

up¹⁰¹ has wing phenotype, suppressible by Mhc^D1/Mhc[+]

(Nongthomba et al., 2003)

up¹⁰¹ has wing phenotype, suppressible by Mhc[+]/Mhc^D41

(Nongthomba et al., 2003)

up¹⁰¹ has wing phenotype, suppressible by Mhc[+]/Mhc^D45

(Nongthomba et al., 2003)

up¹⁰¹ has wing phenotype, suppressible by Tm2^D53/Tm2^D53

(Naimi et al., 2001)

up¹⁰¹ has wing phenotype, suppressible by Tm2^D53/Tm2[+]

(Naimi et al., 2001)

up¹⁰¹ has indirect flight muscle cell phenotype, suppressible by Tm2^D53/Tm2^D53

(Naimi et al., 2001)

up¹⁰¹ has indirect flight muscle cell phenotype, suppressible by Tm2^D53/Tm2[+]

(Naimi et al., 2001)

NOT suppressed by

Statement

Reference

up¹⁰¹ has wing phenotype, non-suppressible by Mhc[+]/Mhc¹⁰

(Nongthomba et al., 2003)

up¹⁰¹ has wing phenotype, non-suppressible by Mhc[+]/Mhc^{R57-24.Act88F}

(Nongthomba et al., 2003)

Other

Statement

Reference

up¹⁰¹, wupA[+]/wupA^hdp-2 has indirect flight muscle cell phenotype

(Firdaus et al., 2015)

Mhc^S1, up[+]/up¹⁰¹ has mesothoracic femur phenotype

(Montana and Littleton, 2004)

Mhc^S2, up[+]/up¹⁰¹ has mesothoracic femur phenotype

(Montana and Littleton, 2004)

Mhc^S1, up¹⁰¹ has mesothoracic femur phenotype

(Montana and Littleton, 2004)

Mhc^S2, up¹⁰¹ has mesothoracic femur phenotype

(Montana and Littleton, 2004)

up¹⁰¹, wupA^hdp-2 has wing phenotype

(Nongthomba et al., 2003)

up¹⁰¹, wupA^hdp-2 has indirect flight muscle cell phenotype

(Nongthomba et al., 2003)

Act88F⁸, up¹⁰¹ has wing phenotype

(Homyk and Emerson, 1988)

Additional Comments

Genetic Interactions

Statement

Reference

wupA^hdp-2/+ shows indirect flight muscle tearing in a trans-heterozygous condition with up¹⁰¹/+.

Trans-heterozygous wupA^fliH, up¹⁰¹ flies show a gradation of phenotypes from flightless to individuals with normal flight. None of these flies show any muscle defects.

(Firdaus et al., 2015)

Flight ability is largely rescues in flies carrying one copy of Act88F^D292V in a Act88F⁶/+ background if they are also hemizygous for up¹⁰¹.

(Sevdali et al., 2013)

Df(3R)Mlp84B^P8 heterozygosity does not modify the muscle phenotypes of homozygous up¹⁰¹ flies.

(Clark et al., 2007)

Hemizygous flies for up¹⁰¹ and heterozygous for Mhc^S1 or Mhc^S2 are synthetic lethal, whereas double heterozygous females have femur hypercontraction defects.

(Montana and Littleton, 2004)

The wing phenotypes of up¹⁰¹/Y flies are not suppressed by Mhc¹⁰/+, while in the double mutants, 80% of the indirect flight muscle fibres are hypercontracted, 20% show a partial hypercontraction phenotype. The wing phenotypes of up¹⁰¹/Y flies are not suppressed by Mhc^{R57-24.Act88F}/+, while in the double mutants, 50% of the indirect flight muscle fibres are hypercontracted, 50% show a partial hypercontraction phenotype. The defects seen in up¹⁰¹/Y flies are partially suppressed by Mhc^2D/+; 52% of the double mutant adults have an upheld wing phenotype, 34% have their wings held down and 14% hold their wings in the normal position. 100% of the indirect flight muscle fibres show a partial hypercontraction phenotype. The wing and indirect flight muscle defects are completely suppressed in up¹⁰¹/Y ; Mhc^2D/Mhc^2D flies. 7% of up¹⁰¹/Y ; Mhc^2F/+ flies have an upheld wing phenotype. The defects seen in up¹⁰¹ flies are suppressed by Mhc^D1/+; 4% of the double mutant adults hold their wings down, 18% have an upheld wing phenotype and 78% hold their wings in the normal position. The indirect flight muscle fibres have normal morphology. The defects seen in up¹⁰¹ flies are suppressed by Mhc^D41/+; 5% of the double mutant adults hold their wings down, 15% have an upheld wing phenotype and 80% hold their wings in the normal position. The indirect flight muscle fibres have normal morphology. The defects seen in up¹⁰¹ flies are suppressed by Mhc^D45/+; 4% of the double mutant adults have an upheld wing phenotype and 96% hold their wings in the normal position. The indirect flight muscle fibres have normal morphology. The defects seen in up¹⁰¹ flies are suppressed by Mhc^D62/+; 100% of the double mutant adults hold their wings in the normal position. The indirect flight muscle fibres have normal morphology. 96% of up¹⁰¹ +/+ wupA^hdp-2 flies have an upheld wing phenotype and 4% hold their wings down. The indirect flight muscle fibres show a hypercontraction phenotype. 92% are flightless.

(Nongthomba et al., 2003)

The up¹⁰¹ wings-up and IFM phenotypes are completely suppressed by Tm2^D53/Tm2^D53 and partially suppressed by Tm2^D53/+. In both cases, the rescued flies are flightless.

(Naimi et al., 2001)

up¹⁰¹ Mhc⁸ double heterozygotes are lethal. Female up¹⁰¹ Mhc⁵ double heterozygotes are completely flightless and have an abnormal wing posture. Male up¹⁰¹ heterozygotes also hemizygous for Mhc⁵ have reduced viability, the rare escapers have "gnarled" legs, walk poorly, and die within 2 days of eclosion. Double heterozygotes with Mhc⁶ are flightless. Double heterozygotes with wupA^hdp-2 are flightless and have an abnormal wing posture. Double heterozygotes with wupA^hdp-101 or fliH¹ have greatly reduced flight ability. Most double heterozygotes with wupA^hdp-4 or wupA^hdp-5 and some with wupA^hdp-3 have an abnormal wing posture. Heterozygotes also carrying rsd¹ Act88F⁸ have an abnormal wing posture at 29^oC.

(Homyk and Emerson, 1988)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Comments

Images (0)

Mutant

Wild-type

Stocks (1)

Bloomington

25403

up¹⁰¹

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (3)

Reported As

Symbol Synonym

up¹⁰¹

(Chatterjee et al., 2016, Firdaus et al., 2015, Gautam et al., 2015, Cozhimuttam Viswanathan et al., 2014, Sevdali et al., 2013, Popodi et al., 2010-, Clark et al., 2007, Borghese et al., 2006)

wupB¹⁰¹

(Fekete and Szidonya, 1979)

Name Synonyms

upheld101

(Gautam et al., 2015)

Secondary FlyBase IDs

References (17)

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