FlyBase Allele Report: Dmel\Chchd2[8-8]

General Information

Symbol

Dmel\Chchd2^8-8

Species

D. melanogaster

Name

FlyBase ID

FBal0361014

Feature type

allele

Associated gene

Dmel\Chchd2

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

(Liu et al., 2020)

Progenitor genotype

Cytology

Description

22bp deletion within the Chchd2 open reading frame.

(Liu et al., 2020)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

complex_substitution

X:17,150,012..17,150,037 [+]

Inserted_sequence:

AGCC

Comment:

The region of 25bp is replaced with "AGCC" in the mutant. The inserted sequence "GGCT" reported in Fig. 1 is on the non-coding strand.

(Liu 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 ( 1 )

Disease

Interaction

References

ameliorates Parkinson's disease 6

modeled by Pink1^HMS01707

(Liu et al., 2020)

ameliorates Parkinson's disease 2

modeled by park^HMS01800

(Liu et al., 2020)

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal locomotor behavior | adult stage | progressive

(Liu et al., 2020)

Phenotype Manifest In

embryonic/larval fat body | early third instar larval stage

(Liu et al., 2020)

flight muscle cell

(Liu et al., 2020)

mitochondrial crista | adult stage

(Liu et al., 2020)

mitochondrion | adult stage

(Liu et al., 2020)

mitochondrion | early third instar larval stage

(Liu et al., 2020)

rhabdomere | adult stage

(Liu et al., 2020)

Detailed Description

Statement

Reference

In Chchd2^8-8 adults, flight muscle mitochondria progressively show less cristae (observed at day 30 but not at day 2); eyes also show a progressive loss of rhabdomeres (more frequent at day 30 than at day 2). In the early third instar larval fat body cells, mitochondria are smaller and fragmented.

(Liu et al., 2020)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

NOT suppressed by

Statement

Reference

Chchd2^8-8 has abnormal locomotor behavior | adult stage | progressive phenotype, non-suppressible by Scer\GAL4^Mef2.247/P32^HMS01059

(Liu et al., 2020)

Phenotype Manifest In