FlyBase Allele Report: Dmel\Fmr1[4.L]

General Information

Symbol

Dmel\Fmr1^4.L

Species

D. melanogaster

Name

FlyBase ID

FBal0156454

Feature type

allele

Associated gene

Dmel\Fmr1

Associated Insertion(s)

Carried in Construct

Also Known As

dfmr1⁴

Key Links

Genomic Maps

JBrowse

Allele class

loss of function allele

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

loss of function allele

(Lee et al., 2003)

Mutagen

ethyl methanesulfonate

(Lee et al., 2003)

Progenitor genotype

Fmr1^EP3517

(Lee et al., 2003)

Cytology

Description

Nucleotide substitution: C?T.

(Lee et al., 2003)

Amino acid replacement: ?289term.

(Lee et al., 2003)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

3R:10,105,161..10,105,161 [-]

Nucleotide change:

C10105161T

Reported nucleotide change:

C?T

Amino acid change:

Reported amino acid change:

Q289term

Comment:

Position of mutation on reference sequence inferred by FlyBase curator.

(Lee et al., 2003)

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

(Jakubowski et al., 2012)

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 locomotor behavior | larval stage (with Fmr1¹)

(Xu et al., 2004)

abnormal locomotor behavior | larval stage (with Fmr1³)

(Xu et al., 2004)

abnormal locomotor behavior | larval stage | recessive

(Xu et al., 2004)

abnormal locomotor behavior | third instar larval stage

(Jakubowski et al., 2012)

viable

(Lee et al., 2003)

viable (with Fmr1¹)

(Lee et al., 2003)

viable (with Fmr1^2.L)

(Lee et al., 2003)

Phenotype Manifest In

dendritic arborizing neuron

(Lee et al., 2003)

Detailed Description

Statement

Reference

Fmr1^4.L mutant larvae crawl more slowly and turn more often than controls.

(Jakubowski et al., 2012)

Fmr1^4.L/Fmr1^4.L, Fmr1¹/Fmr1^4.L and Fmr1³/Fmr1^4.L wandering larvae have defects in crawling behaviour; they spend significantly less time on linear locomotion than wild-type control larvae and the average duration of linear locomotion is reduced compared to controls. The average direction change (direction change is defined as the difference in direction from one frame to the next in the analysis) is increased compared to controls.

(Xu et al., 2004)

No obvious morphological defects are seen in mutant adults. However, when dendritic arborising neurons (DAs) are examined the number of dendritic processes are increased by 25%.

(Lee et al., 2003)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

Fmr1^4.L has abnormal locomotor behavior | recessive | larval stage phenotype, suppressible by Scer\GAL4^109(2)80/ppk^RNAi.UAS

(Xu et al., 2004)

Suppressor of

Statement

Reference

Fmr1^4.L/Fmr1³ is a suppressor | partially of abnormal neuroanatomy phenotype of Scer\GAL4⁴⁷⁷, mir-124^UAS.cXa

(Xu et al., 2008)

Phenotype Manifest In

Suppressor of

Statement

Reference

Fmr1^4.L/Fmr1³ is a suppressor | partially of abdominal 1 dorsal multidendritic neuron ddaC phenotype of Scer\GAL4⁴⁷⁷, mir-124^UAS.cXa

(Xu et al., 2008)

Fmr1^4.L/Fmr1³ is a suppressor | partially of dendrite phenotype of Scer\GAL4⁴⁷⁷, mir-124^UAS.cXa

(Xu et al., 2008)

Additional Comments

Genetic Interactions

Statement

Reference

Ectopic expression of mir-124^Scer\UAS.cXa in ddaC neurons (under the control of Scer\GAL4⁴⁷⁷) in a Fmr1³/Fmr1^4.L background results in a significantly attenuated phenotype, where the number of dendritic ends is partially rescued (although not to the wild-type level). Interestingly, the dendritic fields of ddaC neurons are similar in size to those of wild-type neurons.

(Xu et al., 2008)

Expression of ppk^{dsRNA.Scer\UAS} under the control of Scer\GAL4^109(2)80 can rescue the defects in crawling behaviour seen in Fmr1^4.L/Fmr1^4.L wandering larvae.

(Xu et al., 2004)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Rescued by

Fmr1^4.L/Fmr1³ is rescued by Fmr1^+t14

(Xu et al., 2004)

Fmr1^4.L is rescued by Scer\GAL4^109(2)80/Fmr1^UAS.cWa

(Xu et al., 2004)

Fmr1^4.L is rescued by Fmr1^+t14

(Lee et al., 2003)

Comments

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (3)

Reported As

Symbol Synonym

Fmr1^4.L

Fmr1⁴

(Lee et al., 2003)

dfmr1⁴

(Jakubowski et al., 2012, Xu et al., 2008, Xu et al., 2004)

Name Synonyms

Secondary FlyBase IDs

References (4)

Report Sections

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