FB2025_01 , released February 20, 2025
Allele: Hsap\RAB7AL129F.UAS.N.GFP
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General Information
Symbol
Hsap\RAB7AL129F.UAS.N.GFP
Species
H. sapiens
Name
FlyBase ID
FBal0295670
Feature type
allele
Associated gene
Hsap\RAB7A
Associated Insertion(s)
Carried in Construct
P{UAS-GFP-RAB7A.L129F}
Key Links
Transgenic product class
missense_variant
(Janssens et al., 2014)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Janssens et al., 2014)
Mutagen
in vitro construct
(Janssens et al., 2014)
Progenitor genotype
Carried in construct
P{UAS-GFP-RAB7A.L129F}
Cytology
Description

Amino acid replacement: L129F.

(Janssens et al., 2014)

UAS regulatory sequences drive expression of mutated full-length Hsap\RAB7A coding sequences tagged at the N-terminal with GFP.

(Janssens et al., 2014)
Allele components
Component
Use(s)
Regulatory region(s)
UAS
Encoded product / tool
Hsap\RAB7A
Tagged with
GFP
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 ( 1 )
      Disease
      Evidence
      References
      model of  Charcot-Marie-Tooth disease type 2
      CEA
      (Janssens et al., 2014)
      Modifiers Based on Experimental Evidence ( 0 )
      Disease
      Interaction
      References
      Comments on Models/Modifiers Based on Experimental Evidence ( 1 )
       

      Analysis of axonal transport in vesicles expressing Hsap\RAB7AL129F.Scer\UAS.N.T:Avic\GFP in sensory neurons of Drosophila larvae and in neurites of mammalian neuroblastoma cells demonstrates that mutant vesicles pause less than their wild-type counterparts, This alteration in vesicle transport might contribute to the pathomechanism of CMT2B.

      (Janssens et al., 2014)
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Janssens et al., 2014)
      RAB7A:p.Leu129Phe
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: RAB7A_7345
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Larvae expressing the CMT2B-associated form of Hsap\RAB7A (Hsap\RAB7AL129F.Scer\UAS.N.T:Avic\GFP) under the control of Scer\GAL4D42 cover significantly less distance in a 2-minute time frame as compared to controls. The pattern of movement is also different in these larvae, with mutant larvae changing direction more frequently than controls.

      Approximately 17.4% of larvae expressing Hsap\RAB7AL129F.Scer\UAS.N.T:Avic\GFP in sensory neurons under the control of Scer\GAL412.1 are found on the warm side of a temperature-graded plate, indicating that the mutation has a negative effect on the ability of the larvae to sense non-optimal (but not noxious) temperatures.

      Larvae expressing Hsap\RAB7AL129F.Scer\UAS.N.T:Avic\GFP under the control of Scer\GAL412.1 react significantly slower to a painful stimulus as compared to controls.

      Larvae expressing Hsap\RAB7AL129F.Scer\UAS.N.T:Avic\GFP under the control of Scer\GAL412.1 do not exhibit any motor defects.

      Expression of Hsap\RAB7AL129F.Scer\UAS.N.T:Avic\GFP under the control of Scer\GAL4221 (which drives expression in three sensory neurons per hemisegment) reveals that expression does not affect neuronal morphology or the size and complexity of the dendritic tree.

      (Janssens et al., 2014)
      External Data
      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
      Hsap\RAB7AL129F.Scer\UAS.N.T:Avic\GFP
      Hsap\RAB7AL129F.UAS.N.GFP
      Name Synonyms
      Secondary FlyBase IDs
        References (2)