FB2026_03 , released September 17, 2026
Allele: Dmel\UchV96M
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General Information
Symbol
Dmel\UchV96M
Species
D. melanogaster
Name
FlyBase ID
FBal0369077
Feature type
allele
Associated gene
Dmel\Uch
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

Allele class
Mutagen
Nature of the Allele
Allele class
Mutagen
CRISPR/Cas9
(Ham et al., 2021)
Progenitor genotype
Cytology
Description

Amino acid replacement: V96M.

(Ham et al., 2021)

An V96M knock-in mutation, equivalent to the I93M substitution in Hsap\UCHL1 that has been linked to Parkinson's Disease from one German family.

(Ham et al., 2021)
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
MNV
2L:2,213,447..2,213,449 [-]
Nucleotide change:

GTC2213449ATG

Amino acid change:

V96M | Uch-PA; V96M | Uch-PB; V93M | Uch-PC

Reported amino acid change:

V96M

Comment:

Codon V96 (GTC) is changed to ATG. The V96M knock-in mutation is equivalent to the I93M substitution in Hsap\UCHL1, which has been linked to Parkinson's Disease in one German family.

(Ham et al., 2021)
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 ( 0 )
      Disease
      Evidence
      References
      Modifiers Based on Experimental Evidence ( 1 )
      Disease
      Interaction
      References
      ameliorates  Parkinson's disease 6
      modeled by Pink1B9
      (Ham et al., 2021)
      ameliorates  Parkinson's disease 2
      modeled by park1
      (Ham et al., 2021)
      Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
       
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Ham et al., 2021)
      UCHL1:p.Ile93Met
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: 12297
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference
      External Data
      Interactions
      Show genetic interaction network for Enhancers & Suppressors
      Phenotypic Class
      Suppressor of
      Statement
      Reference

      UchV96M is a suppressor | partially of increased cell death | adult stage phenotype of park1

      (Ham et al., 2021)

      UchV96M is a suppressor | partially of increased cell death | adult stage phenotype of Pink1B9

      (Ham et al., 2021)
      NOT Suppressor of
      Statement
      Reference

      UchV96M is a non-suppressor of abnormal locomotor behavior | adult stage phenotype of Pink1B9

      (Ham et al., 2021)

      UchV96M is a non-suppressor of decreased cell number | adult stage phenotype of Pink1B9

      (Ham et al., 2021)

      UchV96M is a non-suppressor of decreased cell number | adult stage phenotype of park1

      (Ham et al., 2021)

      UchV96M is a non-suppressor of abnormal locomotor behavior | adult stage phenotype of park1

      (Ham et al., 2021)
      Phenotype Manifest In
      Suppressor of
      Statement
      Reference

      UchV96M is a suppressor | partially of mitochondrion | adult stage phenotype of Pink1B9

      (Ham et al., 2021)

      UchV96M is a suppressor | partially of flight muscle cell | adult stage phenotype of Pink1B9

      (Ham et al., 2021)

      UchV96M is a suppressor | partially of mitochondrion | adult stage phenotype of park1

      (Ham et al., 2021)

      UchV96M is a suppressor | partially of flight muscle cell | adult stage phenotype of park1

      (Ham et al., 2021)
      NOT Suppressor of
      Statement
      Reference

      UchV96M is a non-suppressor of dopaminergic PPM1 neuron | decreased number phenotype of Pink1B9

      (Ham et al., 2021)

      UchV96M is a non-suppressor of dopaminergic PPM2 neuron | decreased number phenotype of Pink1B9

      (Ham et al., 2021)

      UchV96M is a non-suppressor of dopaminergic PPM1 neuron | decreased number phenotype of park1

      (Ham et al., 2021)

      UchV96M is a non-suppressor of dopaminergic PPM2 neuron | decreased number phenotype of park1

      (Ham et al., 2021)

      UchV96M is a non-suppressor of dopaminergic PPL1 neuron | decreased number phenotype of park1

      (Ham et al., 2021)
      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
      UCH<up>V96M KI</up>
      (Ham et al., 2021)
      UchV96M
      Name Synonyms
      Secondary FlyBase IDs
        References (2)