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General Information
Symbol
Dmel\fh1
Species
D. melanogaster
Name
FlyBase ID
FBal0321111
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Key Links
Nature of the Allele
Mutations Mapped to the Genome
 
Type
Location
Additional Notes
References
Nucleotide change:

T9148539R

Amino acid change:

S135R | fh-PA

Reported amino acid change:

S136R

Comment:

Mutation of the first S in the amino acid string IWLSSP is reported as a S136R mutaton but maps to S135 in fh-PA and S137 in fh-PB.

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

Amino acid replacement: S136R.

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
Modifiers Based on Experimental Evidence ( 1 )
Disease
Interaction
References
is ameliorated by fh+t3.3
is ameliorated by fhUAS.cAa
is ameliorated by fhUAS.Tag:V5
is ameliorated by laceKK102282
is ameliorated by Pdk1KK108363
is ameliorated by Mef2GD5039
Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
 
Disease-implicated variant(s)
 
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

Hemizygous fh1 or fh1/Df(1)BSC537 mutants are lethal at L3 to P-stage. fh1 mutants exhibit a smaller body size and prolonged larval stages as compared to controls.

fh1 adult retina clones exhibit a rapid decline in electroretinogram amplitude in photoreceptors over a six day period, exhibit an expansion of the endoplasmic reticulum, abnormal mitochondrial morphology with aberrant cristae and altered inner membrane morphology, and an accumulation of lipid droplets in glial cells, and later begin to exhibit degeneration of photoreceptors, with elongated rhabdomeres and missing photoreceptors, in contrast with controls. Neurodegeneration occurs whether the flies are raised in a normal light/dark cycle or in constant dark conditions.

External Data
Interactions
Show genetic interaction network for Enhancers & Suppressors
Phenotypic Class
Suppressed by
NOT suppressed by
Phenotype Manifest In
Suppressed by
NOT suppressed by
Additional Comments
Genetic Interactions
Statement
Reference

Expression of CatScer\UAS.cAa, Sod1Scer\UAS.cAa, Sod2Scer\UAS.cMa, bmmScer\UAS.cGa or Lip4Scer\UAS.cLa under the control of Scer\GAL4ninaE.PT fails to rescue the neurodegeneration and electrophysiology defect seen in fh1 mutant photoreceptor clones.

Expression of both Fer1HCHScer\UAS.cMa and Fer2LCHScer\UAS.cMa under the control of Scer\GAL4ninaE.PT, or expression of Fer3HCHScer\UAS.cMa under the control of Scer\GAL4ninaE.PT, but not expression of both Fer1HCHmut.Scer\UAS and Fer2LCHScer\UAS.cMa under the control of Scer\GAL4ninaE.PT, significantly rescues the neurodegeneration and electrophysiology defect seen in fh1 mutant photoreceptor clones when flies are raised in the dark.

Expression of laceKK102282, Pdk1KK108363, or Mef2GD5039 under the control of Scer\GAL4ninaE.PT partially rescues the neurodegeneration and electrophysiology defect seen in fh1 mutant photoreceptor clones.

Xenogenetic Interactions
Statement
Reference

Expression of Hsap\FXNScer\UAS.cCa under the control of Scer\GAL4ninaE.PT rescues the neurodegeneration and electrophysiology defect seen in fh1 mutant photoreceptor clones.

Expression of Scer\NDI1Scer\UAS.cUa under the control of Scer\GAL4ninaE.PT fails to rescue the electrophysiology defect seen in fh1 mutant photoreceptor clones.

Complementation and Rescue Data
Comments

fh+t3.3 rescues the lethality of fh1 mutants, and rescues the neurodegeneration and electrophysiology defect seen in fh1 mutant photoreceptor clones.

fhScer\UAS.cAa under the control of Scer\GAL4da.G32, but not under the control of Scer\GAL4repo.PU, Scer\GAL4nSyb.PS or Scer\GAL4Mef2.PU, rescues the lethality of fh1 mutants.

Expression of fhScer\UAS.cAa under the control of Scer\GAL4ninaE.PT rescues the neurodegeneration and electrophysiology defect seen in fh1 mutant photoreceptor clones.

Expression of fhScer\UAS.T:SV5\V5, but not fhΔMTS.Scer\UAS.T:SV5\V5, under the control of Scer\GAL4ey.PU rescues the electrophysiology defect seen in fh1 mutant photoreceptor clones.

Images (0)
Mutant
Wild-type
Stocks (2)
Notes on Origin
Discoverer
External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (1)
Reported As
Name Synonyms
Secondary FlyBase IDs
    References (2)