FlyBase Allele Report: Dmel\fh[1]

General Information

Symbol

Dmel\fh¹

Species

D. melanogaster

Name

FlyBase ID

FBal0321111

Feature type

allele

Associated gene

Dmel\fh

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

amorphic allele - genetic evidence

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

amorphic allele - genetic evidence

(Chen et al., 2016)

Mutagen

ethyl methanesulfonate

(Chen et al., 2016)

Progenitor genotype

Cytology

Description

Amino acid replacement: S136R.

(Chen et al., 2016)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

X:9,148,539..9,148,539 [-]

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.

(Chen et al., 2016)

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 Friedreich ataxia

CEA

(Chen et al., 2016)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of Friedreich ataxia

is ameliorated by fh^+t3.3

(Chen et al., 2016)

is ameliorated by fh^UAS.cAa

(Chen et al., 2016)

is ameliorated by fh^UAS.Tag:V5

(Chen et al., 2016)

is ameliorated by Hsap\FXN^UAS.cCa

(Chen et al., 2016)

is ameliorated by Fer1HCH^UAS.cMa

(Chen et al., 2016)

is ameliorated by Fer3HCH^UAS.cMa

(Chen et al., 2016)

is ameliorated by lace^KK102282

(Chen et al., 2016)

is ameliorated by Pdk1^KK108363

(Chen et al., 2016)

is ameliorated by Mef2^GD5039

(Chen et al., 2016)

Comments on Models/Modifiers Based on Experimental Evidence ( 0 )

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal developmental rate

(Chen et al., 2016)

abnormal neuroanatomy | adult stage | somatic clone

(Chen et al., 2016)

abnormal neurophysiology | adult stage | somatic clone

(Chen et al., 2016)

decreased body size

(Chen et al., 2016)

lethal - all die before end of P-stage

(Chen et al., 2016)

lethal - all die before end of P-stage (with Df(1)BSC537)

(Chen et al., 2016)

Phenotype Manifest In

endoplasmic reticulum | adult stage | somatic clone

(Chen et al., 2016)

eye photoreceptor cell | adult stage | somatic clone

(Chen et al., 2016)

mitochondrion | adult stage | somatic clone

(Chen et al., 2016)

rhabdomere of eye photoreceptor cell | adult stage | somatic clone

(Chen et al., 2016)

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.

(Chen et al., 2016)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

fh¹ has abnormal neurophysiology | somatic clone | adult stage phenotype, suppressible | partially by Scer\GAL4^ninaE.PT/Fer2LCH^UAS.cMa/Fer1HCH^UAS.cMa

(Chen et al., 2016)

fh¹ has abnormal neurophysiology | somatic clone | adult stage phenotype, suppressible | partially by Fer3HCH^UAS.cMa/Scer\GAL4^ninaE.PT

(Chen et al., 2016)

fh¹ has abnormal neurophysiology | somatic clone | adult stage phenotype, suppressible | partially by lace^KK102282/Scer\GAL4^ninaE.PT

(Chen et al., 2016)

fh¹ has abnormal neurophysiology | somatic clone | adult stage phenotype, suppressible | partially by Pdk1^KK108363/Scer\GAL4^ninaE.PT

(Chen et al., 2016)

fh¹ has abnormal neurophysiology | somatic clone | adult stage phenotype, suppressible | partially by Scer\GAL4^ninaE.PT/Mef2^GD5039

(Chen et al., 2016)

fh¹ has abnormal neuroanatomy | somatic clone | adult stage phenotype, suppressible | partially by Pdk1^KK108363/Scer\GAL4^ninaE.PT

(Chen et al., 2016)

fh¹ has abnormal neuroanatomy | somatic clone | adult stage phenotype, suppressible | partially by Scer\GAL4^ninaE.PT/Mef2^GD5039

(Chen et al., 2016)

fh¹ has abnormal neurophysiology | somatic clone | adult stage phenotype, suppressible by Scer\GAL4^ninaE.PT/Hsap\FXN^UAS.cCa

(Chen et al., 2016)

fh¹ has abnormal neuroanatomy | somatic clone | adult stage phenotype, suppressible by Scer\GAL4^ninaE.PT/Hsap\FXN^UAS.cCa

(Chen et al., 2016)

NOT suppressed by

Statement

Reference

fh¹ has abnormal neurophysiology | somatic clone | adult stage phenotype, non-suppressible by bmm^UAS.cGa/Scer\GAL4^ninaE.PT

(Chen et al., 2016)

fh¹ has abnormal neuroanatomy | somatic clone | adult stage phenotype, non-suppressible by bmm^UAS.cGa/Scer\GAL4^ninaE.PT

(Chen et al., 2016)

fh¹ has abnormal neurophysiology | somatic clone | adult stage phenotype, non-suppressible by Lip4^UAS.cLa/Scer\GAL4^ninaE.PT

(Chen et al., 2016)

fh¹ has abnormal neuroanatomy | somatic clone | adult stage phenotype, non-suppressible by Lip4^UAS.cLa/Scer\GAL4^ninaE.PT

(Chen et al., 2016)

fh¹ has abnormal neurophysiology | somatic clone | adult stage phenotype, non-suppressible by Fer1HCH^mut.UAS/Scer\GAL4^ninaE.PT/Fer2LCH^UAS.cMa

(Chen et al., 2016)

fh¹ has abnormal neurophysiology | somatic clone | adult stage phenotype, non-suppressible by Scer\NDI1^UAS.cUa/Scer\GAL4^ninaE.PT

(Chen et al., 2016)

fh¹ has abnormal neurophysiology | somatic clone | adult stage phenotype, non-suppressible by Cat^UAS.cAa/Scer\GAL4^ninaE.PT

(Chen et al., 2016)

fh¹ has abnormal neurophysiology | somatic clone | adult stage phenotype, non-suppressible by Sod1^UAS.cAa/Scer\GAL4^ninaE.PT

(Chen et al., 2016)

fh¹ has abnormal neurophysiology | somatic clone | adult stage phenotype, non-suppressible by Sod2^UAS.cMa/Scer\GAL4^ninaE.PT

(Chen et al., 2016)

Phenotype Manifest In

Suppressed by

Statement

Reference

fh¹ has eye photoreceptor cell | somatic clone | adult stage phenotype, suppressible | partially by Scer\GAL4^ninaE.PT/Fer2LCH^UAS.cMa/Fer1HCH^UAS.cMa

(Chen et al., 2016)

fh¹ has eye photoreceptor cell | somatic clone | adult stage phenotype, suppressible | partially by Fer3HCH^UAS.cMa/Scer\GAL4^ninaE.PT

(Chen et al., 2016)

fh¹ has eye photoreceptor cell | somatic clone | adult stage phenotype, suppressible | partially by lace^KK102282/Scer\GAL4^ninaE.PT

(Chen et al., 2016)

fh¹ has eye photoreceptor cell | somatic clone | adult stage phenotype, suppressible | partially by Pdk1^KK108363/Scer\GAL4^ninaE.PT

(Chen et al., 2016)

fh¹ has eye photoreceptor cell | somatic clone | adult stage phenotype, suppressible | partially by Scer\GAL4^ninaE.PT/Mef2^GD5039

(Chen et al., 2016)

fh¹ has eye photoreceptor cell | somatic clone | adult stage phenotype, suppressible by Scer\GAL4^ninaE.PT/Hsap\FXN^UAS.cCa

(Chen et al., 2016)

fh¹ has rhabdomere of eye photoreceptor cell | somatic clone | adult stage phenotype, suppressible by Scer\GAL4^ninaE.PT/Hsap\FXN^UAS.cCa

(Chen et al., 2016)

NOT suppressed by

Statement

Reference

fh¹ has eye photoreceptor cell | somatic clone | adult stage phenotype, non-suppressible by Cat^UAS.cAa/Scer\GAL4^ninaE.PT

(Chen et al., 2016)

fh¹ has eye photoreceptor cell | somatic clone | adult stage phenotype, non-suppressible by Sod1^UAS.cAa/Scer\GAL4^ninaE.PT

(Chen et al., 2016)

fh¹ has eye photoreceptor cell | somatic clone | adult stage phenotype, non-suppressible by Sod2^UAS.cMa/Scer\GAL4^ninaE.PT

(Chen et al., 2016)

fh¹ has eye photoreceptor cell | somatic clone | adult stage phenotype, non-suppressible by bmm^UAS.cGa/Scer\GAL4^ninaE.PT

(Chen et al., 2016)

fh¹ has eye photoreceptor cell | somatic clone | adult stage phenotype, non-suppressible by Lip4^UAS.cLa/Scer\GAL4^ninaE.PT

(Chen et al., 2016)

fh¹ has eye photoreceptor cell | somatic clone | adult stage phenotype, non-suppressible by Fer1HCH^mut.UAS/Scer\GAL4^ninaE.PT/Fer2LCH^UAS.cMa

(Chen et al., 2016)

fh¹ has eye photoreceptor cell | somatic clone | adult stage phenotype, non-suppressible by Scer\NDI1^UAS.cUa/Scer\GAL4^ninaE.PT

(Chen et al., 2016)

Additional Comments

Genetic Interactions

Statement

Reference

Expression of Cat^Scer\UAS.cAa, Sod1^Scer\UAS.cAa, Sod2^Scer\UAS.cMa, bmm^Scer\UAS.cGa or Lip4^Scer\UAS.cLa under the control of Scer\GAL4^ninaE.PT fails to rescue the neurodegeneration and electrophysiology defect seen in fh¹ mutant photoreceptor clones.

Expression of both Fer1HCH^Scer\UAS.cMa and Fer2LCH^Scer\UAS.cMa under the control of Scer\GAL4^ninaE.PT, or expression of Fer3HCH^Scer\UAS.cMa under the control of Scer\GAL4^ninaE.PT, but not expression of both Fer1HCH^mut.Scer\UAS and Fer2LCH^Scer\UAS.cMa under the control of Scer\GAL4^ninaE.PT, significantly rescues the neurodegeneration and electrophysiology defect seen in fh¹ mutant photoreceptor clones when flies are raised in the dark.

Expression of lace^KK102282, Pdk1^KK108363, or Mef2^GD5039 under the control of Scer\GAL4^ninaE.PT partially rescues the neurodegeneration and electrophysiology defect seen in fh¹ mutant photoreceptor clones.

(Chen et al., 2016)

Xenogenetic Interactions

Statement

Reference

Expression of Hsap\FXN^Scer\UAS.cCa under the control of Scer\GAL4^ninaE.PT rescues the neurodegeneration and electrophysiology defect seen in fh¹ mutant photoreceptor clones.

Expression of Scer\NDI1^Scer\UAS.cUa under the control of Scer\GAL4^ninaE.PT fails to rescue the electrophysiology defect seen in fh¹ mutant photoreceptor clones.

(Chen et al., 2016)

Complementation and Rescue Data

Rescued by

fh¹ is rescued by fh^UAS.cAa/Scer\GAL4^da.G32

(Chen et al., 2016)

fh¹ is rescued by fh^UAS.cAa/Scer\GAL4^ninaE.PT

(Chen et al., 2016)

fh¹ is rescued by fh^UAS.Tag:V5

(Chen et al., 2016)

fh¹ is rescued by fh^+t3.3

(Chen et al., 2016)

Not rescued by

fh¹ is not rescued by fh^UAS.cAa/Scer\GAL4^repo.PU

(Chen et al., 2016)

fh¹ is not rescued by fh^UAS.cAa/Scer\GAL4^nSyb.PS

(Chen et al., 2016)

fh¹ is not rescued by fh^UAS.cAa/Scer\GAL4^Mef2.PU

(Chen et al., 2016)

fh¹ is not rescued by fh^{ΔMTS.UAS.Tag:V5}

(Chen et al., 2016)

Comments

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

fh^Scer\UAS.cAa under the control of Scer\GAL4^da.G32, but not under the control of Scer\GAL4^repo.PU, Scer\GAL4^nSyb.PS or Scer\GAL4^Mef2.PU, rescues the lethality of fh¹ mutants.

Expression of fh^Scer\UAS.cAa under the control of Scer\GAL4^ninaE.PT rescues the neurodegeneration and electrophysiology defect seen in fh¹ mutant photoreceptor clones.

Expression of fh^{Scer\UAS.T:SV5\V5}, but not fh^{ΔMTS.Scer\UAS.T:SV5\V5}, under the control of Scer\GAL4^ey.PU rescues the electrophysiology defect seen in fh¹ mutant photoreceptor clones.

(Chen et al., 2016)

Images (0)

Mutant

Wild-type

Stocks (2)

Bloomington

67162

y¹ w^* fh¹ P{neoFRT}19A; PBac{fh.+3.3}VK00033

67161

y¹ w^* fh¹ P{neoFRT}19A/FM7c, P{GAL4-Kr.C}DC1, P{UAS-GFP.S65T}DC5, sn⁺

Notes on Origin

Discoverer