FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Human Disease Model Report: scapuloperoneal spinal muscular atrophy
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General Information
Name
scapuloperoneal spinal muscular atrophy
FlyBase ID
FBhh0001243
Disease Ontology Term
Parent Disease
OMIM
SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY; SPSMA
Overview

Scapuloperoneal spinal muscular atrophy (SPSMA) is one of several neuromuscular disorders associated with the human TRPV4 gene. See the human disease model report for neuromuscular diseases, TRPV4-related (FBhh0001240) for information on experimental results using Drosophila models of this and related diseases.

UAS constructs of the human Hsap\TRPV4 gene have been introduced into flies, including wild-type and variants implicated in disease. Variant(s) implicated in human disease tested (as transgenic human gene, TRPV4): the R269C variant form of the human gene has been introduced into flies. This variant is also implicated in HMSN2C and HMN8.

[updated Aug. 2020 by FlyBase; FBrf0222196]

Disease Summary Information
Disease Summary: scapuloperoneal spinal muscular atrophy
OMIM report

[SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY; SPSMA](https://omim.org/entry/181405)

Human gene(s) implicated

[TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 4; TRPV4](https://omim.org/entry/605427)

Symptoms and phenotype

Features of this variable clinical disorder include congenital absence of muscles, progressive scapuloperoneal atrophy, laryngeal palsy, and progressive distal weakness and amyotrophy. Individuals within the same family may present with different phenotypes. [from MIM:181405; 2020.08.16]

(OMIM, 2013-)
Genetics

Scapuloperoneal spinal muscular atrophy (SPSMA) is caused by heterozygous mutation in the TRPV4 gene. [from MIM:181405; 2020.08.16]

(OMIM, 2013-)
Cellular phenotype and pathology
Molecular information
External links
Disease synonyms
SPSMA
Ortholog Information
Human gene(s) in FlyBase
Human gene (HGNC)
Symbol / Name
TRPV4; transient receptor potential cation channel subfamily V member 4
D. melanogaster ortholog (based on DIOPT)
Dmel\nan
(DIOPT, 2013-)
Dmel\iav
(DIOPT, 2013-)
Comments on ortholog(s)

Many to many: multiple related genes in both species.

Other mammalian ortholog(s) used
    D. melanogaster Gene Information (0)
    Other Genes Used: Viral, Bacterial, Synthetic (0)
      Summary of Physical Interactions (0 groups)
      Alleles Reported to Model Human Disease (Disease Ontology) (5 alleles)
      Alleles Representing Disease-Implicated Variants
      Genetic Tools, Stocks and Reagents
      Sources of Stocks
      Contact lab of origin for a reagent not available from a public stock center.
      Bloomington Stock Center Disease Page
      Related mammalian, viral, bacterial, or synthetic transgenes
      Allele
      Transgene
      Publicly Available Stocks
      Hsap\TRPV4UAS.cUa
      P{UAS-hTRPV4.U}
      Hsap\TRPV4UAS.cWa
      P{UAS-hTRPV4.W}
      Hsap\TRPV4R269C.UAS
      P{UAS-hTRPV4.R269C}
      Hsap\TRPV4R269C.M680K.UAS
      P{UAS-hTRPV4.R269C.M680K}
      Hsap\TRPV4R232C.UAS
      P{UAS-hTRPV4.R232C}
      Hsap\TRPV4R269C.UAS.BID
      P{UAS-hTRPV4.R269C.BID}
      Selected Drosophila transgenes
      Allele
      Transgene
      Publicly Available Stocks
      RNAi constructs available
      Allele
      Transgene
      Publicly Available Stocks
      Selected Drosophila classical alleles
      Allele
      Allele class
      Mutagen
      Publicly Available Stocks
      References (4)