FlyBase Allele Report: Dmel\Rtnl1[1.W]

General Information

Symbol

Dmel\Rtnl1^1.W

Species

D. melanogaster

Name

FlyBase ID

FBal0246222

Feature type

allele

Associated gene

Dmel\Rtnl1

Associated Insertion(s)

Carried in Construct

Also Known As

Rtnl1¹

Key Links

Genomic Maps

JBrowse

Allele class

Mutagen

P-element activity

Nature of the Allele

Allele class

Mutagen

P-element activity

(Wakefield and Tear, 2006)

Progenitor genotype

P{GawB}Rtnl1^NP7026

(Wakefield and Tear, 2006)

Cytology

Description

5148bp deletion in Rtnl1 ( 2L:4 ,993,938..4,999,085).

(Yalçın et al., 2017)

Imprecise excision of the progenitor insertion, P{GawB}Rtnl1^NP7026, resulting in a 4kb deletion extending from the original P-element insertion to a point within the 3'UTR of Rtnl1, removing all the RHD-encoding exons.

(Wakefield and Tear, 2006)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

deletion

2L:4,993,938..4,999,085 [-]

Comment:

5148 bp deletion resulting from the imprecise excision of P{GawB}Rtnl1^NP7026 removes most of the coding exons of Rtnl1.

(Yalçın et al., 2017)

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 hereditary spastic paraplegia

CEA

(Oliva et al., 2020)

model of hereditary spastic paraplegia 12

CEA

(Pérez-Moreno 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 neuroanatomy | third instar larval stage

(Yalçın et al., 2017)

abnormal neurophysiology | larval stage (with Rtnl1¹⁸)

(Pérez-Moreno et al., 2023)

abnormal neurophysiology | third instar larval stage

(Summerville et al., 2016)

fertile

(Wakefield and Tear, 2006)

short lived

(Wakefield and Tear, 2006)

short lived | heat sensitive

(Wakefield and Tear, 2006)

viable

(Wakefield and Tear, 2006)

Phenotype Manifest In

Detailed Description

Statement

Reference

Epidermal cells in Rtnl1^1.W mutant third instar larvae display loss of endoplasmic reticulum (ER) network organization (the ER is more diffused), in the middle parts of long motor axons ER fragmentation is sometimes observed and this does reflect actual physical gaps in the ER structure (based on multiple marker stainings and FRAP assays).

(Yalçın et al., 2017)

Rtnl1^1.W/Rtnl1^1.W third instar larvae do not show detectable abnormalities in endoplasmic reticulum (ER) structure in motor neuron cell bodies, axons or nerve terminals. Excitatory junction potential (EJP) amplitude is significantly decreased (at 0.1 or 0.6 mM Ca[2+]) at the neuromuscular junction of Rtnl1^1.W/Rtnl1^1.W third instar larvae compared to controls; reduction in EJP corresponds with a significant decrease in the frequency of successful synaptic transmission. As bath Ca[2+] concentration increases, transmitter release in Rtnl1^1.W/Rtnl1^1.W larvae becomes similar to wild type (complete rescue at 1.5 mM). There is no change in mini EJP (mEJP) amplitude in Rtnl1^1.W/Rtnl1^1.W mutants (mean of 4 pooled Ca[2+] concentrations).

The number and size of active zones is not significantly different to wild type in Rtnl1^1.W/Rtnl1^1.W mutants.

(Summerville et al., 2016)

Rtnl1^1.W mutant flies are viable, fertile, and exhibit no obvious developmental abnormalities. Flies maintained at room temperature or 29[o]C show a 39% decrease in median lifespan from 31 to 19 days.

(Wakefield and Tear, 2006)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

Rtnl1^1.W has abnormal neuroanatomy | third instar larval stage phenotype, enhanceable by ReepA⁵⁴¹/ReepA⁵⁴¹/ReepB⁴⁸/ReepB⁴⁸

(Yalçın et al., 2017)

Rtnl1^1.W has abnormal neuroanatomy | third instar larval stage phenotype, enhanceable by ReepB⁴⁸/ReepB⁴⁸

(Yalçın et al., 2017)

Suppressed by

Statement

Reference

Rtnl1^1.W has abnormal neurophysiology | third instar larval stage phenotype, suppressible by atl²/atl²

(Summerville et al., 2016)

Enhancer of

Statement

Reference

Rtnl1^1.W is an enhancer of abnormal neurophysiology | adult stage phenotype of Hsap\MAPT^{P301L.QUAS.0N4R}, Ncra\QF^QF2w.nSyb

(Praschberger et al., 2023)

Suppressor of

Statement

Reference

Rtnl1^1.W/Rtnl1^1.W is a suppressor of abnormal neurophysiology | third instar larval stage phenotype of atl²

(Summerville et al., 2016)

Other

Statement

Reference

ReepA⁵⁴¹, ReepB⁴⁸, Rtnl1^1.W has short lived phenotype

(Yalçın et al., 2017)

ReepA⁵⁴¹, ReepB⁴⁸, Rtnl1^1.W has abnormal neuroanatomy | third instar larval stage phenotype

(Yalçın et al., 2017)

Phenotype Manifest In

Enhanced by

Statement

Reference

Rtnl1^1.W has endoplasmic reticulum | third instar larval stage phenotype, enhanceable by ReepA⁵⁴¹/ReepA⁵⁴¹/ReepB⁴⁸/ReepB⁴⁸

(Yalçın et al., 2017)

Rtnl1^1.W has axon | third instar larval stage phenotype, enhanceable by ReepA⁵⁴¹/ReepA⁵⁴¹/ReepB⁴⁸/ReepB⁴⁸

(Yalçın et al., 2017)

Rtnl1^1.W has endoplasmic reticulum | third instar larval stage phenotype, enhanceable by ReepB⁴⁸/ReepB⁴⁸

(Yalçın et al., 2017)

Rtnl1^1.W has axon | third instar larval stage phenotype, enhanceable by ReepB⁴⁸/ReepB⁴⁸

(Yalçın et al., 2017)

Suppressed by

Statement

Reference

Rtnl1^1.W has embryonic/larval neuromuscular junction | third instar larval stage phenotype, suppressible by atl²/atl²

(Summerville et al., 2016)

Enhancer of

Statement

Reference

Rtnl1^1.W is an enhancer of retina | adult stage phenotype of Hsap\MAPT^{P301L.QUAS.0N4R}, Ncra\QF^QF2w.nSyb

(Praschberger et al., 2023)

Suppressor of

Statement

Reference

Rtnl1^1.W/Rtnl1^1.W is a suppressor of embryonic/larval neuromuscular junction | third instar larval stage phenotype of atl²

(Summerville et al., 2016)

Other

Statement

Reference

ReepA⁵⁴¹, ReepB⁴⁸, Rtnl1^1.W has subperineurial glial cell | third instar larval stage phenotype

(Yalçın et al., 2017)

ReepA⁵⁴¹, ReepB⁴⁸, Rtnl1^1.W has embryonic/larval wrapping glial cell | third instar larval stage phenotype

(Yalçın et al., 2017)

Additional Comments

Genetic Interactions

Statement

Reference

Rtnl1^1.W,ReepB⁴⁸;ReepA⁵⁴¹ triple mutants are viable but survive poorly beyond two weeks of age. The gaps in axonal endoplasmic reticulum (ER) observed in Rtnl1^1.W mutant third instar larvae become more frequent upon combination with ReepB⁴⁸ or ReepB⁴⁸ and ReepA⁵⁴¹ together. Rtnl1^1.W,ReepB⁴⁸;ReepA⁵⁴¹ triple mutant larvae have fewer but enlarged ER tubules in peripheral nerve axons and display large abnormal accumulations of the synaptic vesicle protein Csp in axons suggesting defects in axonal transport. Electron microscopy analysis confirms fragmentation of the ER network in the triple mutant axons but while the gaps in ER are significantly larger compared to controls, their average number across larvae is only slightly and not significantly increased. Rtnl1^1.W,ReepB⁴⁸;ReepA⁵⁴¹ peripheral nerves also display glial phenotypes: subperineural and wrapping glia exhibit longer ER sheets and the wrapping glia display more extensive wrapping of the axons, sometimes completely ensheathing them.

(Yalçın et al., 2017)

atl²/atl² significantly suppresses the reduced EJP amplitude phenotype (at 0.6 mM Ca[2+]) at the NMJ in Rtnl1^1.W/Rtnl1^1.W third instar larvae.

(Summerville et al., 2016)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Rescued by

Rtnl1^1.W is rescued by Rtnl1^UAS.Tag:HA/Scer\GAL4^da.G32

(Summerville et al., 2016)

Rtnl1^1.W is rescued by Scer\GAL4^VGlut1-OK371/Scer\GAL4^Gli.PU/Rtnl1^UAS.Tag:HA/Scer\GAL4^Mef2.PR

(Summerville et al., 2016)

Partially rescued by

Rtnl1^1.W is partially rescued by Rtnl1^{+tCH322-124P15}

(Yalçın et al., 2017)

Rtnl1^1.W is partially rescued by Rtnl1^UAS.Tag:HA/Scer\GAL4^arm.PS

(Summerville et al., 2016)

Not rescued by

Rtnl1¹⁸/Rtnl1^1.W is not rescued by Scer\GAL4^Toll-6-D42/Rtnl1^UAS.EGFP

(Pérez-Moreno et al., 2023)

Rtnl1^1.W is not rescued by Rtnl1^UAS.Tag:HA/Scer\GAL4^Mef2.PR

(Summerville et al., 2016)

Rtnl1^1.W is not rescued by Rtnl1^UAS.Tag:HA/Scer\GAL4^Toll-6-D42

(Summerville et al., 2016)

Comments

The frequency of gaps in the axonal endoplasmic reticulum observed in Rtnl1^1.W mutant third instar larvae is somewhat decreased by combination with Rtnl1^{+tCH322-124P15} but still above that seen in control larvae.

Combination with two copies of Rtnl1^{+tCH322-124P15} rescues the abnormal accumulations of synaptic vesicle protein Csp, used as a read-out for axonal transport, detected in Rtnl1^1.W,ReepB⁴⁸;ReepA⁵⁴¹ triple mutant third instar larvae.

(Yalçın et al., 2017)

Expression of Rtnl1^{Scer\UAS.T:Ivir\HA1} driven by Scer\GAL4^arm.PS significantly partially rescues decreased EJP amplitude at the NMJ of Rtnl1^1.W/Rtnl1^1.W third instar larvae; expression driven by Scer\GAL4^da.G32 fully rescues EJP amplitude (and frequency of synaptic successes). Expression of Rtnl1^{Scer\UAS.T:Ivir\HA1} driven by Scer\GAL4^Toll-6-D42 or Scer\GAL4^Mef2.PR fails to rescue decreases in EJP amplitude (and frequency of synaptic successes) at the NMJ of Rtnl1^1.W/Rtnl1^1.W third instar larvae. Expression of Rtnl1^{Scer\UAS.T:Ivir\HA1} driven simultaneously by Scer\GAL4^VGlut-OK371, Scer\GAL4^Mef2.PR and Scer\GAL4^Gli.PU rescues decreases in EJP amplitude (and frequency of synaptic successes) at the NMJ of Rtnl1^1.W/Rtnl1^1.W third instar larvae.

(Summerville et al., 2016)

Images (0)

Mutant

Wild-type

Stocks (1)

Bloomington

77904

w^*; Rtnl1^1.W ReepB⁴⁸ ReepA⁵⁴¹/CyO

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (4)

Reported As

Symbol Synonym

Rtnl1^1.W

Rtnl1¹

(Pérez-Moreno et al., 2023, Praschberger et al., 2023, Espadas et al., 2019, Yalçın et al., 2017, Summerville et al., 2016, Wakefield and Tear, 2006)

Rtnl1^1W

(Wang et al., 2023)

rtnl1^null

(Roper, 2007)

Name Synonyms

Secondary FlyBase IDs

References (9)

Report Sections

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