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General Information
Symbol
Dmel\up101
Species
D. melanogaster
Name
FlyBase ID
FBal0017630
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Key Links
Allele class
Nature of the Allele
Allele class
Mutations Mapped to the Genome
 
Type
Location
Additional Notes
References
Nucleotide change:

G13596576A

Reported nucleotide change:

GAG?AAG

Amino acid change:

E89K | up-PA; E81K | up-PB; E66K | up-PE; E89K | up-PG; E66K | up-PH; E89K | up-PI; E81K | up-PJ; E89K | up-PK; E81K | up-PL; E66K | up-PM; E87K | up-PN; E89K | up-PO; E88K | up-PP; E80K | up-PQ; E80K | up-PR; E80K | up-PS

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.

Associated Sequence Data
DNA sequence
Protein sequence
 
 
Progenitor genotype
Cytology
Nature of the lesion
Statement
Reference

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

Glu88>Lys88 GAG>AAG

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 )
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
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.

Homozygous border cell clones show normal migration.

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.

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.

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

Normal electroretinogram.

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

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 29oC than at 22oC: 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.

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
Interactions
Show genetic interaction network for Enhancers & Suppressors
Phenotypic Class
Suppressed by
Statement
Reference

up101 has visible phenotype, suppressible | partially by Mhc[+]/MhcD45

up101 has visible phenotype, suppressible by Mhc[+]/MhcD62

up101 has visible phenotype, suppressible by Mhc[+]/Mhc2B

up101 has visible phenotype, suppressible by Mhc2D/Mhc2D

up101 has visible phenotype, suppressible | partially by Mhc[+]/Mhc2D

up101 has visible phenotype, suppressible | partially by Mhc[+]/Mhc2F

up101 has visible phenotype, suppressible | partially by MhcD1/Mhc[+]

up101 has visible phenotype, suppressible | partially by Mhc[+]/MhcD41

up101 has abnormal locomotor behavior phenotype, suppressible by Tm2D53/Tm2[+]

NOT suppressed by
Statement
Reference

up101 has flightless phenotype, non-suppressible by Mhc[+]/MhcR57-24.Act88F

up101 has visible phenotype, non-suppressible by Mhc[+]/MhcR57-24.Act88F

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

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

Suppressor of
Statement
Reference

up101 is a suppressor of flightless phenotype of Act88F6, Act88FD292V

Other
Statement
Reference

Tm2D53/Tm2[+], up101 has flightless phenotype

rsd1, up101 has visible | dominant | cold sensitive phenotype

Act88F8, up101 has visible | dominant | cold sensitive phenotype

Phenotype Manifest In
Suppressed by
Statement
Reference

up101 has wing phenotype, suppressible | partially by Mhc[+]/MhcD41

up101 has indirect flight muscle cell phenotype, suppressible by Mhc[+]/MhcD45

up101 has wing phenotype, suppressible | partially by Mhc[+]/MhcD45

up101 has indirect flight muscle cell phenotype, suppressible by Mhc[+]/MhcD62

up101 has wing phenotype, suppressible by Mhc[+]/MhcD62

up101 has indirect flight muscle cell phenotype, suppressible by Mhc[+]/Mhc2B

up101 has wing phenotype, suppressible by Mhc[+]/Mhc2B

up101 has wing phenotype, suppressible by Mhc2D/Mhc2D

up101 has wing phenotype, suppressible | partially by Mhc[+]/Mhc2D

up101 has indirect flight muscle cell phenotype, suppressible by Mhc[+]/Mhc2F

up101 has wing phenotype, suppressible | partially by Mhc[+]/Mhc2F

up101 has indirect flight muscle cell phenotype, suppressible by MhcD1/Mhc[+]

up101 has wing phenotype, suppressible | partially by MhcD1/Mhc[+]

up101 has indirect flight muscle cell phenotype, suppressible by Mhc[+]/MhcD41

up101 has indirect flight muscle cell phenotype, suppressible | partially by Tm2D53/Tm2[+]

up101 has wing phenotype, suppressible | partially by Tm2D53/Tm2[+]

up101 has wing phenotype, suppressible by Tm2D53/Tm2D53

NOT suppressed by
Statement
Reference

up101 has wing phenotype, non-suppressible by Mhc[+]/MhcR57-24.Act88F

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

Other
Additional Comments
Genetic Interactions
Statement
Reference

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

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

Flight ability is largely rescues in flies carrying one copy of Act88FD292V in a Act88F6/+ background if they are also hemizygous for up101.

Df(3R)Mlp84BP8 heterozygosity does not modify the muscle phenotypes of homozygous up101 flies.

Hemizygous flies for up101 and heterozygous for MhcS1 or MhcS2 are synthetic lethal, whereas double heterozygous females have femur hypercontraction defects.

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 MhcR57-24.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 Mhc2D/+; 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 ; Mhc2D/Mhc2D flies. 7% of up101/Y ; Mhc2F/+ flies have an upheld wing phenotype. The defects seen in up101 flies are suppressed by MhcD1/+; 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 MhcD41/+; 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 MhcD45/+; 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 MhcD62/+; 100% of the double mutant adults hold their wings in the normal position. The indirect flight muscle fibres have normal morphology. 96% of up101 +/+ wupAhdp-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.

The up101 wings-up and IFM phenotypes are completely suppressed by Tm2D53/Tm2D53 and partially suppressed by Tm2D53/+. In both cases, the rescued flies are flightless.

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 wupAhdp-2 are flightless and have an abnormal wing posture. Double heterozygotes with wupAhdp-101 or fliH1 have greatly reduced flight ability. Most double heterozygotes with wupAhdp-4 or wupAhdp-5 and some with wupAhdp-3 have an abnormal wing posture. Heterozygotes also carrying rsd1 Act88F8 have an abnormal wing posture at 29oC.

Xenogenetic Interactions
Statement
Reference
Complementation and Rescue Data
Comments
Images (0)
Mutant
Wild-type
Stocks (1)
Notes on Origin
Discoverer
External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (3)
References (17)