FlyBase Allele Report: Dmel\Dis3l2[12]

General Information

Symbol

Dmel\Dis3l2¹²

Species

D. melanogaster

Name

FlyBase ID

FBal0367258

Feature type

allele

Associated gene

Dmel\Dis3l2

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

(Towler et al., 2020)

Mutagen

CRISPR/Cas9

(Towler et al., 2020)

Progenitor genotype

Cytology

Description

An 8bp deletion causing a frame shift mutation and resulting in no Dis3l2 protein being produced.

(Towler et al., 2020)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

deletion

3L:212,862..212,869 [+]

Comment:

An 8bp deletion early in the Dis3l2 coding region causes a frameshift mutation.

(Towler 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 ( 1 )

Disease

Evidence

References

model of Perlman syndrome

CEA

(Towler et al., 2020)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of Perlman syndrome

is exacerbated by Idgf2^UAS.cTa

(Towler et al., 2020)

is ameliorated by Hsap\DIS3L2^UAS.cTa

(Towler et al., 2020)

is ameliorated by Idgf2^HMC04223

(Towler et al., 2020)

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

Phenotype Manifest In

epithelial cell of wing disc | increased number

(Towler et al., 2020)

epithelial cell of wing disc | increased number (with Df(3L)Exel6084)

(Towler et al., 2020)

haltere disc

(Towler et al., 2020)

leg disc

(Towler et al., 2020)

wing

(Towler et al., 2020)

wing (with Df(3L)Exel6084)

(Towler et al., 2020)

wing disc

(Towler et al., 2020)

wing hair | increased number

(Towler et al., 2020)

wing hair | increased number (with Df(3L)Exel6084)

(Towler et al., 2020)

Detailed Description

Statement

Reference

Dis3l2¹²/Dis3l2¹² homozygotes or Dis3l2¹²/Df(3L)Exel6084 hemizygotes display a large wing, due mostly to increased cell number but also to increased cell size. Wing, haltere and leg imaginal discs are enlarged and show increased mitotic index. Adults are bigger and with higher mass than controls.

(Towler et al., 2020)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

Dis3l2¹² has increased size | adult stage phenotype, suppressible | partially by Scer\GAL4^nub-AC-62/Hsap\DIS3L2^UAS.cTa

(Towler et al., 2020)

Dis3l2¹² has increased size | larval stage phenotype, suppressible | partially by Scer\GAL4^en.PU/Idgf2^HMC04223