FlyBase Allele Report: Dmel\PheRS-m[KO]

General Information

Symbol

Dmel\PheRS-m^KO

Species

D. melanogaster

Name

FlyBase ID

FBal0371472

Feature type

allele

Associated gene

Dmel\PheRS-m

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

amorphic allele - molecular evidence

Mutagen

CRISPR/Cas9

Nature of the Allele

Allele class

amorphic allele - molecular evidence

(Fan et al., 2021)

Mutagen

CRISPR/Cas9

(Fan et al., 2021)

Progenitor genotype

Cytology

Description

A 1 bp deletion followed by an 11 bp insertion in exon 1 of PheRS-m, causing a frame shift at codon 87 and a new stop codon at codon 101 downstream of the translation start.

(Fan et al., 2021)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

delins

2R:13,968,672..13,968,672 [+]

Comment:

Deletion of a single base and insertion of 11 bases (GGGGCAAGGGG).

(Fan 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 developmental and epileptic encephalopathy

CEC

(Fan et al., 2021)

model of neonatal period electroclinical syndrome

CEA with Hsap\FARS2^G309S.UAS

(Fan et al., 2021)

model of hereditary spastic paraplegia

CEA with Hsap\FARS2^D142Y.UAS

(Fan et al., 2021)

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

abnormal developmental rate | larval stage | recessive

(Fan et al., 2021)

decreased body size | larval stage

(Fan et al., 2021)

lethal - all die before end of second instar larval stage | recessive

(Fan et al., 2021)

Phenotype Manifest In

mitochondrial chromosome | increased number | larval stage

(Fan et al., 2021)

Detailed Description

Statement

Reference

PheRS-m^KO homozygous larvae show severe developmental delay, reaching the second instar stage; larvae are significantly smaller than controls; larvae show increased levels of mtDNA.

(Fan et al., 2021)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

PheRS-m^KO has abnormal developmental rate | recessive | larval stage phenotype, suppressible | partially by Hsap\FARS2^D142Y.UAS/Scer\GAL4^da.PU

(Fan et al., 2021)

PheRS-m^KO has increased mortality during development phenotype, suppressible | partially by Hsap\FARS2^D142Y.UAS/Scer\GAL4^da.PU