FlyBase Allele Report: Dmel\Uch[C93S]

General Information

Symbol

Dmel\Uch^C93S

Species

D. melanogaster

Name

FlyBase ID

FBal0369078

Feature type

allele

Associated gene

Dmel\Uch

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

Mutagen

CRISPR/Cas9

Nature of the Allele

Allele class

Mutagen

CRISPR/Cas9

(Ham et al., 2021)

Progenitor genotype

Cytology

Description

Amino acid replacement: C93S.

(Ham et al., 2021)

An C93S knock-in mutation, equivalent to the C90S substitution in Hsap\UCHL1 that is a catalytically dead form of the protein.

(Ham et al., 2021)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

MNV

2L:2,213,454..2,213,458 [-]

Inserted_sequence:

AGTTC

Comment:

TGTGG is changed to AGTTC affecting codons 93 (C93S) and 94 G94S ) of Uch.

(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 ( 1 )

Disease

Evidence

References

model of type 2 diabetes mellitus

CEA

(Lee et al., 2024)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

ameliorates Parkinson's disease 6

modeled by Pink1^B9

(Ham et al., 2021)

ameliorates Parkinson's disease 2

modeled by park¹

(Ham et al., 2021)

model of type 2 diabetes mellitus

is ameliorated by Ilp2^UAS.cBa

(Lee et al., 2024)

Comments on Models/Modifiers Based on Experimental Evidence ( 0 )

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

Phenotype Manifest In

adult hemolymph

(Lee et al., 2024)

adult hemolymph (with Uch^KO)

(Lee et al., 2024)

axon | adult stage (with Uch^KO)

(Lee et al., 2024)

embryonic/larval hemolymph | larval stage

(Lee et al., 2024)

mechanosensory neuron of leg campaniform sensillum | decreased number

(Lee et al., 2024)

mechanosensory neuron of leg campaniform sensillum | decreased number (with Uch^KO)

(Lee et al., 2024)

Detailed Description

Statement

Reference

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressor of

Statement

Reference

Uch^C93S is a suppressor of increased cell death | adult stage phenotype of Pink1^B9

(Ham et al., 2021)

Uch^C93S is a suppressor of abnormal locomotor behavior | adult stage phenotype of Pink1^B9

(Ham et al., 2021)

Uch^C93S is a suppressor | partially of decreased cell number | adult stage phenotype of park¹

(Ham et al., 2021)

Uch^C93S is a suppressor of increased cell death | adult stage phenotype of park¹

(Ham et al., 2021)

Uch^C93S is a suppressor of abnormal locomotor behavior | adult stage phenotype of park¹

(Ham et al., 2021)

Uch^C93S is a suppressor | partially of decreased cell number | adult stage phenotype of Pink1^B9

(Ham et al., 2021)

Phenotype Manifest In

Suppressor of

Statement

Reference

Uch^C93S is a suppressor of dopaminergic PPM2 neuron | decreased number phenotype of park¹

(Ham et al., 2021)

Uch^C93S is a suppressor of dopaminergic PPL1 neuron | decreased number phenotype of park¹

(Ham et al., 2021)

Uch^C93S is a suppressor of mitochondrion | adult stage phenotype of Pink1^B9

(Ham et al., 2021)

Uch^C93S is a suppressor | partially of dopaminergic PPM2 neuron | decreased number phenotype of Pink1^B9

(Ham et al., 2021)

Uch^C93S is a suppressor | partially of dopaminergic PPM1 neuron | decreased number phenotype of Pink1^B9

(Ham et al., 2021)

Uch^C93S is a suppressor of flight muscle cell | adult stage phenotype of Pink1^B9

(Ham et al., 2021)

Uch^C93S is a suppressor of flight muscle cell | adult stage phenotype of park¹

(Ham et al., 2021)

Uch^C93S is a suppressor of mitochondrion | adult stage phenotype of park¹

(Ham et al., 2021)

Uch^C93S is a suppressor of dopaminergic PPM1 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 (3)

Reported As

Symbol Synonym

UCH<up>C93S KI</up>

(Ham et al., 2021)

UCH^C93S

(Lee et al., 2024)

Uch^C93S

Name Synonyms

Secondary FlyBase IDs

References (2)

Report Sections

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