FlyBase Allele Report: Dmel\Nf1[E1]

General Information

Symbol

Dmel\Nf1^E1

Species

D. melanogaster

Name

FlyBase ID

FBal0197114

Feature type

allele

Associated gene

Dmel\Nf1

Associated Insertion(s)

Carried in Construct

Also Known As

dNF1^E1

Key Links

Genomic Maps

JBrowse

Allele class

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

Mutagen

ethyl methanesulfonate

(Walker et al., 2006)

Progenitor genotype

Cytology

Description

Amino acid replacement: Q1062term.

(Walker et al., 2006)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

3R:25,987,160..25,987,160 [+]

Nucleotide change:

C25987160T

Amino acid change:

Reported amino acid change:

Q1062term

Comment:

Site of nucleotide substitution in mutant inferred by FlyBase based on reported amino acid change.

(Walker et al., 2006)

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 neurofibromatosis

CEA

(Walker et al., 2006)

CEA with Nf1^E2

(Walker et al., 2006)

CEA with Nf1^P1

(Botero et al., 2021, King et al., 2020)

model of neurofibromatosis 1

CEA with Nf1^E2

(Durkin et al., 2023)

CEA with Nf1^P1

(Durkin et al., 2023)

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

abnormal circadian rhythm | adult stage (with Nf1^E2)

(Durkin et al., 2023)

abnormal learning | adult stage (with Nf1^E2)

(Gouzi et al., 2011)

abnormal neuroanatomy | larval stage (with Nf1^E2)

(Tsai et al., 2012)

abnormal neurophysiology | larval stage (with Nf1^E2)

(Tsai et al., 2012)

abnormal size | pupal stage (with Nf1^E2)

(Gouzi et al., 2011)

decreased body size | pupal stage

(Walker et al., 2006)

decreased body size | pupal stage (with Nf1^P2)

(Walker et al., 2006)

decreased sleep | adult stage (with Nf1^E2)

(Durkin et al., 2023)

decreased sleep | larval stage (with Nf1^E2)

(Durkin et al., 2023)

decreased sleep | larval stage (with Nf1^P1)

(Durkin et al., 2023)

Phenotype Manifest In

NMJ bouton | larval stage | increased number (with Nf1^E2)

(Tsai et al., 2012)

pupa

(Walker et al., 2006)

pupa (with Nf1^P2)

(Walker et al., 2006)

wing

(Walker et al., 2006)

wing disc

(Walker et al., 2006)

Detailed Description

Statement

Reference

The timing of pupariation is normal in homozygous and Nf1^E1/Nf1^E2 larvae, but they show an approximately 25% weight reduction compared to controls at the end of the larval stage.

Nf1^E1/Nf1^E2 do not show altered longevity compared to controls.

(Walker et al., 2013)

Bouton number per muscle area is significantly increased compared to wild type at the neuromuscular junction in Nf1^E1/Nf1^E2 larvae.

The amplitude of the evoked junctional potential (EJP) at the NMJ is significantly increased in Nf1^E1/Nf1^E2 larvae compared to wild type.

(Tsai et al., 2012)

Nf1^E2/Nf1^E1 pupae are smaller than wild type. Adult flies exhibit associative olfactory learning defects.

(Gouzi et al., 2011)

Homozygous pupae are 15-20% smaller than wild-type controls. Heterozygous pupae also show a small but highly significant reduction in length compared to controls.

The surface area of the wing in homozygotes is only 64% that of control flies.

Wing imaginal discs are reduced in size and made up of smaller cells in Nf1^E1 animals compared to controls. There is no obvious difference in cell cycle phasing in these cells (as assayed by FACS analysis) compared to controls.

(Walker et al., 2006)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

Nf1^E1/Nf1^E2 has decreased sleep | larval stage phenotype, suppressible by Scer\GAL4^elav.PU/Alk^{EC.UAS.Tag:MYC}

(Durkin et al., 2023)

Nf1^E1/Nf1^E2 has abnormal learning | adult stage phenotype, suppressible by Scer\GAL4^elav-C155/Alk^{EC.UAS.Tag:MYC}

(Gouzi et al., 2011)

Nf1^E1/Nf1^E2 has abnormal learning | adult stage phenotype, suppressible by Alk^{EC.UAS.Tag:MYC}/Scer\GAL4^Ras64B.PW

(Gouzi et al., 2011)

Nf1^E1/Nf1^E2 has abnormal learning | adult stage phenotype, suppressible by Alk^{EC.UAS.Tag:MYC}/Scer\GAL4^Alk.38

(Gouzi et al., 2011)

Nf1^E1/Nf1^E2 has abnormal learning | adult stage phenotype, suppressible by Scer\GAL4^elav-C155/Alk^GD42

(Gouzi et al., 2011)

Nf1^E1/Nf1^E2 has abnormal learning | adult stage phenotype, suppressible by Alk^GD42/Scer\GAL4^Ras64B.PW

(Gouzi et al., 2011)

Nf1^E1/Nf1^E2 has abnormal learning | adult stage phenotype, suppressible by Alk^GD42/Scer\GAL4^Alk.38

(Gouzi et al., 2011)

NOT suppressed by

Statement

Reference

Nf1^E1/Nf1^E2 has abnormal learning | adult stage phenotype, non-suppressible by Scer\GAL4^c747/Alk^{EC.UAS.Tag:MYC}

(Gouzi et al., 2011)

Nf1^E1/Nf1^E2 has abnormal learning | adult stage phenotype, non-suppressible by Scer\GAL4^c747/Alk^GD42

(Gouzi et al., 2011)

Phenotype Manifest In

Additional Comments

Genetic Interactions

Statement

Reference

Expression of Alk^{EC.Scer\UAS.T:Hsap\MYC} under the control of either the Scer\GAL4^elav-C155, Scer\GAL4^Ras64B.PW or Scer\GAL4^Alk.38 driver, and restricted to the adult stages using Scer\GAL80^ts.αTub84B, rescues the olfactory learning defects seen in Nf1^E2/Nf1^E1 mutants.

Expression of Alk^{EC.Scer\UAS.T:Hsap\MYC} under the control of Scer\GAL4^c747, and restricted to the adult stages using Scer\GAL80^ts.αTub84B, fails to rescue the olfactory learning defects seen in Nf1^E2/Nf1^E1 mutants.

Expression of Alk^GD42 under the control of either the Scer\GAL4^elav-C155, Scer\GAL4^Ras64B.PW or Scer\GAL4^Alk.38 driver, and restricted to the adult stages using Scer\GAL80^ts.αTub84B, rescues the olfactory learning defects seen in Nf1^E2/Nf1^E1 mutants.

Expression of Alk^GD42 under the control of Scer\GAL4^c747, and restricted to the adult stages using Scer\GAL80^ts.αTub84B, fails to rescue the olfactory learning defects seen in Nf1^E2/Nf1^E1 mutants.

(Gouzi et al., 2011)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Fails to complement

Nf1^P2

(Walker et al., 2006)

Rescued by

Nf1^E1/Nf1^E2 is rescued by Scer\GAL4^elav.PU/Nf1^UAS.cdNa

(Durkin et al., 2023)

Nf1^E1/Nf1^E2 is rescued by Nf1^UAS.cWa/Scer\GAL4^Alk.38

(Gouzi et al., 2011)

Nf1^E1/Nf1^E2 is rescued by Scer\GAL4^elav-C155/Nf1^UAS.cWa/Scer\GAL80^ts.αTub84B

(Gouzi et al., 2011)

Nf1^E1/Nf1^E2 is rescued by Nf1^UAS.cWa/Scer\GAL4^Ras64B.PW/Scer\GAL80^ts.αTub84B

(Gouzi et al., 2011)

Nf1^E1/Nf1^E2 is rescued by Nf1^UAS.cWa/Scer\GAL4^Alk.38/Scer\GAL80^ts.αTub84B

(Gouzi et al., 2011)

Nf1^E1/Nf1^E2 is rescued by Scer\GAL4^elav-C155/Scer\GAL80^Mef2.mb247/Nf1^UAS.cWa

(Gouzi et al., 2011)

Partially rescued by

Nf1^E1/Nf1^E2 is partially rescued by Scer\GAL4^elav-C155/Nf1^UAS.cWa

(Walker et al., 2006)

Not rescued by

Nf1^E1/Nf1^E2 is not rescued by Scer\GAL4^c747/Nf1^UAS.cWa/Scer\GAL80^ts.αTub84B

(Gouzi et al., 2011)

Nf1^E1/Nf1^E2 is not rescued by Scer\GAL4^Mef2.247/Nf1^UAS.cWa/Scer\GAL80^ts.αTub84B

(Gouzi et al., 2011)

Nf1^E1/Nf1^E2 is not rescued by Scer\GAL4^ey-OK107/Nf1^UAS.cWa/Scer\GAL80^ts.αTub84B

(Gouzi et al., 2011)

Nf1^E1/Nf1^E2 is not rescued by Scer\GAL4^en-e16E/Nf1^UAS.cWa

(Walker et al., 2006)

Comments

Expression of Nf1^Scer\UAS.cWa under the control of Scer\GAL4^Alk.38 rescues the small pupae phenotype seen in Nf1^E2/Nf1^E1 mutants.

Expression of Nf1^Scer\UAS.cWa under the control of the mushroom body drivers Scer\GAL4^c747, Scer\GAL4^Mef2.247 or Scer\GAL4^ey-OK107, and restricted to the adult stages using Scer\GAL80^ts.αTub84B, fails to rescue the olfactory learning defects seen in Nf1^E2/Nf1^E1 mutants.

Expression of Nf1^Scer\UAS.cWa under the control of the mushroom body drivers Scer\GAL4^elav-C155, Scer\GAL4^Ras64B.PW or Scer\GAL4^Alk.38 and restricted to the adult stages using Scer\GAL80^ts.αTub84B, fails to rescue the olfactory learning defects seen in Nf1^E2/Nf1^E1 mutants.

Expression of Nf1[Scer\UAS.cWa] under the control of the pan-neuronal driver Scer\GAL4^elav-C155, as well as Scer\GAL80^Mef2.PT to prevent expression in the mushroom bodies, rescues the olfactory learning defects seen in Nf1^E2/Nf1^E1 animals. Significant rescue is also seen with the Scer\GAL4^Ras64B.PW and Scer\GAL4^Alk.38 drivers.

(Gouzi et al., 2011)

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (5)

Reported As

Symbol Synonym

NF1^E1

(Moscato et al., 2020, Tsai et al., 2012, Walker et al., 2006)

Nf1^E1

(Durkin et al., 2023, Botero et al., 2021, King et al., 2020, Gouzi et al., 2011)

dNF1^E1

(Gouzi et al., 2011)

dNf1^E1

(Walker et al., 2013)

nf1^E1

(Suarez et al., 2025)

Name Synonyms

Secondary FlyBase IDs

References (9)

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