FlyBase Allele Report: Dmel\Fmr1[I307N.Z.UAS]

General Information

Symbol

Dmel\Fmr1^I307N.Z.UAS

Species

D. melanogaster

Name

FlyBase ID

FBal0131028

Feature type

allele

Associated gene

Dmel\Fmr1

Associated Insertion(s)

Carried in Construct

P{UAS-Fmr1.I307N.Z}

Key Links

Genomic Maps

JBrowse

Transgenic product class

missense_variant

(Zhang et al., 2001)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Zhang et al., 2001)

Mutagen

in vitro construct

(Zhang et al., 2001)

Progenitor genotype

Fmr1^UAS.cZa

(Zhang et al., 2001)

Carried in construct

P{UAS-Fmr1.I307N.Z}

Cytology

Description

Construct: Amino acid replacement: I307N.

(Zhang et al., 2001)

Allele components

Component

Use(s)

Regulatory region(s)

UASt

binary expression system - regulatory region

Encoded product / tool

Fmr1

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

3R:10,105,109..10,105,109 [-]

Nucleotide change:

T10105109A

Reported nucleotide change:

T?A

Amino acid change:

Reported amino acid change:

I307N

Comment:

Mutation in analogous codon in human FMR1 implicated in Fragile X syndrome; mutation carried on in vitro construct.

(Zhang et al., 2001)

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 fragile X syndrome

CEA

(Zhang et al., 2001)

Modifiers Based on Experimental Evidence ( 0 )

Disease

Interaction

References

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

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Zhang et al., 2001)

FMR1:p.Ile304Asn

(FlyBase curators, 2019-)

Variants Synonym(s)

Associated human disease model(s)

fragile X syndrome

External database links

ClinVar: FMR1_9969

Comments concerning this variant

Phenotypic Data

Phenotypic Class

abnormal neurophysiology, with Scer\GAL4^hs.2sev

(Zhang et al., 2001)

flightless, with Scer\GAL4^elav-C155

(Zhang et al., 2001)

flightless, with Scer\GAL4^Mhc.PW

(Zhang et al., 2001)

lethal, with Fmr1^UAS.cZa, Scer\GAL4^elav-C155

(Zhang et al., 2001)

lethal, with Scer\GAL4^elav-C155

(Zhang et al., 2001)

lethal - all die before end of pupal stage, with Scer\GAL4^G7

(Zhang et al., 2001)

some die during immature adult stage | recessive, with Scer\GAL4^elav-C155

(Zhang et al., 2001)

some die during pupal stage, with Scer\GAL4^G7

(Zhang et al., 2001)

uncoordinated, with Scer\GAL4^elav-C155

(Zhang et al., 2001)

visible, with Scer\GAL4^elav-C155

(Zhang et al., 2001)

Phenotype Manifest In

ommatidium, with Scer\GAL4^hs.2sev

(Zhang et al., 2001)

photoreceptor cell & synapse & lamina receptor cell, with Scer\GAL4^hs.2sev

(Zhang et al., 2001)

photoreceptor neuron, with Scer\GAL4^hs.2sev

(Zhang et al., 2001)

rhabdomere, with Scer\GAL4^hs.2sev

(Zhang et al., 2001)

wing, with Scer\GAL4^elav-C155

(Zhang et al., 2001)

wing, with Scer\GAL4^Mhc.PW

(Zhang et al., 2001)

Detailed Description

Statement

Reference

The phenotypes produced by Fmr1^{I307N.Z.Scer\UAS} are similar but consistently weaker than those produced by Fmr1^Scer\UAS.cZa. When expression is driven by Scer\GAL4^elav-C155 flies show abnormally outspread wings and cannot fly. Flies are uncoordinated and show adult lethality - dying 5-10 days post-eclosion. When expression is driven by Scer\GAL4^Mhc.PW flies' wings are droopy or held up and they cannot fly. When expression is driven by Scer\GAL4^G7 flies show pupal lethality. When expression is driven by Scer\GAL4^hs.2sev the retina is disordered with misshapen rhabdomeres, abnormal rhabdomere numbers and fused ommatidia. Phototransduction is normal, however synaptic transmission is reduced (as indicated by a reduction in off-transient mean amplitude as assayed by ERG).

(Zhang et al., 2001)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Phenotype Manifest In

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

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

Fmr1^{I307N.Z.Scer\UAS}

Fmr1^I307N.Z.UAS

Name Synonyms

Secondary FlyBase IDs

References (2)

Report Sections

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