FlyBase Allele Report: Dmel\Fmr1[E68K.EP3517]

General Information

Symbol

Dmel\Fmr1^E68K.EP3517

Species

D. melanogaster

Name

FlyBase ID

FBal0243001

Feature type

allele

Associated gene

Dmel\Fmr1

Associated Insertion(s)

P{EP}EP3517

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

Mutagen

ethyl methanesulfonate

(Reeve et al., 2008)

Progenitor genotype

P{EP}EP3517

(Reeve et al., 2008)

Associated Insertion(s)

P{EP}EP3517

Cytology

Description

Nucleotide substitution: G?A.

(Reeve et al., 2008)

Base change GAG->AAG.

(Reeve et al., 2008)

Fmr1^E68K.EP3517 carries both the P{EP} insertion present in the progenitor allele and the amino acid replacement in the Fmr1 coding region.

(Reeve et al., 2008)

Amino acid replacement: E68K.

(Reeve et al., 2008, Reeve et al., 2008)

Allele components

Component

Use(s)

Inserted element

P{EP}

misexpression element

Regulatory region(s)

UAS

binary expression system - regulatory region

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

3R:10,106,013..10,106,013 [-]

Nucleotide change:

G10106013A

Reported nucleotide change:

G?A

Amino acid change:

Reported amino acid change:

E68K

(Reeve et al., 2008, Reeve et al., 2008)

transposable_element_insertion_site

3R:10,109,872..10,109,872 [-]

(Reeve et al., 2008)

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 ( 0 )

Disease

Evidence

References

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 neuroanatomy, with Scer\GAL4^P2.4.Pdf

(Reeve et al., 2008)

abnormal neuroanatomy (with Fmr1^Δ113M)

(Reeve et al., 2008)

viable, with Scer\GAL4^αTub84B.PL

(Reeve et al., 2008)

Phenotype Manifest In

LNv neuron, with Scer\GAL4^P2.4.Pdf

(Reeve et al., 2008)

LNv neuron (with Fmr1^Δ113M)

(Reeve et al., 2008)

Detailed Description

Statement

Reference

Transheterozygosity to Fmr1^Δ113M, or overexpression by Scer\GAL4^P2.4.Pdf, result in a defasciculation phenotype of the termini of the LNv neuron's dorsal projections.

(Reeve et al., 2008)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

NOT suppressed by

Statement

Reference

Fmr1^E68K.EP3517, Scer\GAL4^P2.4.Pdf has abnormal neuroanatomy phenotype, non-suppressible by Cyfip^UAS.cSa, Scer\GAL4^P2.4.Pdf

(Reeve et al., 2008)

Other

Statement

Reference

Cyfip^UAS.cSa, Fmr1^E68K.EP3517, Scer\GAL4^elav.PU has abnormal neuroanatomy phenotype

(Reeve et al., 2008)

Phenotype Manifest In

NOT suppressed by

Statement

Reference

Fmr1^E68K.EP3517, Scer\GAL4^P2.4.Pdf has LNv neuron phenotype, non-suppressible by Cyfip^UAS.cSa, Scer\GAL4^P2.4.Pdf

(Reeve et al., 2008)

Other

Statement

Reference

Cyfip^UAS.cSa, Fmr1^E68K.EP3517, Scer\GAL4^elav.PU has neuromuscular junction phenotype

(Reeve et al., 2008)

Additional Comments

Genetic Interactions

Statement

Reference

Co-expression of Sra-1^Scer\UAS.cSa does not suppress the defasciculation of LNv neurons caused by Scer\GAL4^P2.4.Pdf; Fmr1^E68K.EP3517

Co-overexpression of Fmr1^E68K.EP3517 and Sra-1^Scer\UAS.cSa using Scer\GAL4^elav.PU results in a significant neuromuscular junction overgrowth phenotype.

(Reeve et al., 2008)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Comments

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

Selected as: A mutation that suppresses the lethality caused when a Scer\GAL4 driver is used to overexpress Fmr1 from the P{EP}Fmr1^EP3517 insertion.

(Reeve et al., 2008)

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (6)

Reported As

Symbol Synonym

E68K

(Reeve et al., 2008)

Fmr1^E68K.EP3517

L11

(Reeve et al., 2008)

L20

(Reeve et al., 2008)

L24

(Reeve et al., 2008)

Name Synonyms

Secondary FlyBase IDs

References (2)

Report Sections

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