FlyBase Allele Report: Hsap\FMR1[S500D.UAS.Tag:MYC]

General Information

Symbol

Hsap\FMR1^{S500D.UAS.Tag:MYC}

Species

H. sapiens

Name

FlyBase ID

FBal0267403

Feature type

allele

Associated gene

Hsap\FMR1

Associated Insertion(s)

Carried in Construct

P{UAS-FMR1.S500D.MYC}

Key Links

Transgenic product class

missense_variant

(Coffee et al., 2012)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Coffee et al., 2012)

Mutagen

in vitro construct

(Coffee et al., 2012)

Progenitor genotype

Carried in construct

P{UAS-FMR1.S500D.MYC}

Cytology

Description

UAS regulatory sequences drive expression of a mutant form of Hsap\FMR1 in which the serine at residue 500 has been replaced by an aspartic acid. The construct is tagged with Tag:MYC.

(Coffee et al., 2012)

Allele components

Component

Use(s)

Regulatory region(s)

UAS

binary expression system - regulatory region

Encoded product / tool

Hsap\FMR1

Tagged with

Tag:MYC

epitope tag

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

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

Phenotype Manifest In

Detailed Description

Statement

Reference

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressor of

Statement

Reference

Scer\GAL4^elav.PU/Hsap\FMR1^{S500D.UAS.Tag:MYC} is a suppressor of abnormal neuroanatomy | third instar larval stage phenotype of Fmr1^Δ50M

(Coffee et al., 2012)

Scer\GAL4^ey-OK107/Hsap\FMR1^{S500D.UAS.Tag:MYC} is a suppressor of abnormal learning | adult stage phenotype of Fmr1^Δ50M

(Coffee et al., 2012)

Phenotype Manifest In

Suppressor of

Statement

Reference

Scer\GAL4^elav.PU/Hsap\FMR1^{S500D.UAS.Tag:MYC} is a suppressor of embryonic/larval neuromuscular junction | third instar larval stage phenotype of Fmr1^Δ50M

(Coffee et al., 2012)

Scer\GAL4^elav.PU/Hsap\FMR1^{S500D.UAS.Tag:MYC} is a suppressor of NMJ bouton | increased number | third instar larval stage phenotype of Fmr1^Δ50M

(Coffee et al., 2012)

Scer\GAL4^elav.PU/Hsap\FMR1^{S500D.UAS.Tag:MYC} is a suppressor of s-LNv Pdf neuron | increased number | third instar larval stage phenotype of Fmr1^Δ50M

(Coffee et al., 2012)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Expression of Hsap\FMR1^{S500D.Scer\UAS.T:Hsap\MYC} under the control of Scer\GAL4^elav.PU rescues the neuromuscular junction synapse architecture defects seen in Fmr1^Δ50M mutant third instar larvae. The increase in Futsch-positive loops is also fully rescued.

Expressing Hsap\FMR1^{S500D.Scer\UAS.T:Hsap\MYC} under the control of Scer\GAL4^elav.PU rescues the expanded terminals and supernumerary synaptic boutons seen in the small ventrolateral neurons of Fmr1^Δ50M mutant adults.

(Coffee et al., 2012)

Complementation and Rescue Data

Comments

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (2)

Reported As

Symbol Synonym

Hsap\FMR1^{S500D.Scer\UAS.T:Hsap\MYC}

Hsap\FMR1^{S500D.UAS.Tag:MYC}

Name Synonyms

Secondary FlyBase IDs

References (1)

Report Sections

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