FlyBase Allele Report: Dmel\UQCR-C1[null]

General Information

Symbol

Dmel\UQCR-C1^null

Species

D. melanogaster

Name

FlyBase ID

FBal0365996

Feature type

allele

Associated gene

Dmel\UQCR-C1

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

(Lin et al., 2020)

Progenitor genotype

Cytology

Description

4bp deletion within UQCR-C1; results in a frameshift and an early termination at residue 111.

(Lin et al., 2020)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

deletion

3R:14,890,798..14,890,801 [+]

Comment:

A 4bp deletion within UQCR-C1 leads to a frameshift and early translation termination.

(Lin et al., 2020)

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 ( 0 )

Disease

Interaction

References

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

Phenotype Manifest In

Detailed Description

Statement

Reference

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Other

Statement

Reference

Hsap\UQCRC1^{Y314S.UAS.Tag:V5}, Scer\GAL4^Act.PU, UQCR-C1^null/UQCR-C1[+] has short lived phenotype

(Lin et al., 2020)

Hsap\UQCRC1^{Y314S.UAS.Tag:V5}, Scer\GAL4^Act.PU, UQCR-C1^null/UQCR-C1[+] has abnormal neuroanatomy | third instar larval stage phenotype

(Lin et al., 2020)

Hsap\UQCRC1^{Y314S.UAS.Tag:V5}, Scer\GAL4^Act.PU, UQCR-C1^null/UQCR-C1[+] has abnormal jumping | progressive phenotype

(Lin et al., 2020)

Hsap\UQCRC1^{Y314S.UAS.Tag:V5}, Scer\GAL4^Act.PU, UQCR-C1^null/UQCR-C1[+] has abnormal neuroanatomy | adult stage phenotype

(Lin et al., 2020)

Hsap\UQCRC1^{Y314S.UAS.Tag:V5}, Scer\GAL4^Act.PU, UQCR-C1^null/UQCR-C1[+] has abnormal size | third instar larval stage phenotype

(Lin et al., 2020)

Hsap\UQCRC1^{Y314S.UAS.Tag:V5}, Scer\GAL4^Act.PU, UQCR-C1^null/UQCR-C1[+] has decreased cell number | adult stage phenotype

(Lin et al., 2020)

Hsap\UQCRC1^{Y314S.UAS.Tag:V5}, Scer\GAL4^Act.PU, UQCR-C1^null/UQCR-C1[+] has abnormal locomotor behavior | adult stage | progressive phenotype

(Lin et al., 2020)

Phenotype Manifest In

Other

Statement

Reference

Hsap\UQCRC1^{Y314S.UAS.Tag:V5}, Scer\GAL4^Act.PU, UQCR-C1^null/UQCR-C1[+] has dopaminergic PPL1 neuron | decreased number phenotype

(Lin et al., 2020)

Hsap\UQCRC1^{Y314S.UAS.Tag:V5}, Scer\GAL4^Act.PU, UQCR-C1^null/UQCR-C1[+] has dopaminergic PPM1 neuron | decreased number phenotype

(Lin et al., 2020)

Hsap\UQCRC1^{Y314S.UAS.Tag:V5}, Scer\GAL4^Act.PU, UQCR-C1^null/UQCR-C1[+] has embryonic/larval neuromuscular junction | third instar larval stage phenotype

(Lin et al., 2020)

Hsap\UQCRC1^{Y314S.UAS.Tag:V5}, Scer\GAL4^Act.PU, UQCR-C1^null/UQCR-C1[+] has T-bar | third instar larval stage phenotype

(Lin et al., 2020)

Hsap\UQCRC1^{Y314S.UAS.Tag:V5}, Scer\GAL4^Act.PU, UQCR-C1^null/UQCR-C1[+] has NMJ bouton | third instar larval stage | decreased number phenotype

(Lin et al., 2020)

Hsap\UQCRC1^{Y314S.UAS.Tag:V5}, Scer\GAL4^Act.PU, UQCR-C1^null/UQCR-C1[+] has dopaminergic PPM2 neuron | decreased number phenotype

(Lin et al., 2020)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

UQCR-C1^null/+ adults expressing Hsap\UQCRC1^UAS.Tag:V5 under the control of Scer\GAL4^Act.PU show a progressive decline in climbing and jumping activity. Aged adult show decreased numbers of dopaminergic PPM1/2 and PPL1 neurons.

Third instar larvae show smaller NMJs, with fewer, unevenly spaced boutons; presynaptic compartments are unevenly enlarged, active zones form clusters in the enlarged boutons, boutons.

(Lin et al., 2020)

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 (1)

Reported As

Symbol Synonym

UQCR-C1^null

(Lin et al., 2020)

Name Synonyms

Secondary FlyBase IDs

References (1)

Report Sections

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