FlyBase Allele Report: Dmel\mtm[ΔC]

General Information

Symbol

Dmel\mtm^ΔC

Species

D. melanogaster

Name

FlyBase ID

FBal0386322

Feature type

allele

Associated gene

Dmel\mtm

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

(Hu et al., 2022)

Progenitor genotype

Cytology

Description

Deletion of sequence encoding four consecutive amino acids (558-561) in the C-terminal myotubularin-like phosphatase domain.

(Hu et al., 2022)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

deletion

2L:6,035,074..6,035,085 [-]

Comment:

Deletion of the codons for amino acids (558-561) of mtm in the C-terminal myotubularin-like phosphatase domain.

(Hu et al., 2022)

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 Charcot-Marie-Tooth disease type 4B1

CEA

(Hu et al., 2022)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of Charcot-Marie-Tooth disease type 4B1

is exacerbated by Mer⁴

(Hu et al., 2022)

is exacerbated by ex^e1

(Hu et al., 2022)

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

increased cell number | P-stage | somatic clone - tissue specific

(Hu et al., 2022)

lethal

(Hu et al., 2022)

Phenotype Manifest In

interommatidial cell | P-stage | increased number | somatic clone - tissue specific

(Hu et al., 2022)

Detailed Description

Statement

Reference

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

mtm^ΔC has increased cell number | P-stage | somatic clone - tissue specific phenotype, enhanceable by Mer⁴/Mer⁴

(Hu et al., 2022)

Enhancer of

Statement

Reference

mtm^ΔC/mtm^ΔC is an enhancer of increased cell number | P-stage | somatic clone - tissue specific phenotype of Mer⁴

(Hu et al., 2022)

Other

Statement

Reference

Mer⁴, mtm^ΔC has increased size | adult stage | somatic clone - tissue specific phenotype

(Hu et al., 2022)

ex^e1, mtm^ΔC has increased size | adult stage | somatic clone - tissue specific phenotype

(Hu et al., 2022)

ex^e1, mtm^ΔC has increased cell number | P-stage | somatic clone - tissue specific phenotype

(Hu et al., 2022)

Phenotype Manifest In

Enhanced by

Statement

Reference

mtm^ΔC has interommatidial cell | P-stage | increased number | somatic clone - tissue specific phenotype, enhanceable by Mer⁴/Mer⁴

(Hu et al., 2022)

Enhancer of

Statement

Reference

mtm^ΔC/mtm^ΔC is an enhancer of interommatidial cell | P-stage | increased number | somatic clone - tissue specific phenotype of Mer⁴

(Hu et al., 2022)

Other

Statement

Reference

Mer⁴, mtm^ΔC has eye | somatic clone - tissue specific phenotype

(Hu et al., 2022)

ex^e1, mtm^ΔC has eye | somatic clone - tissue specific phenotype

(Hu et al., 2022)

ex^e1, mtm^ΔC has interommatidial cell | increased number | P-stage | somatic clone - tissue specific phenotype

(Hu et al., 2022)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Fails to complement

mtm^ΔN

(Hu et al., 2022)

mtm^null

(Hu et al., 2022)

mtm^G447D

(Hu et al., 2022)

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

mtm^ΔC

(Hu et al., 2022)

Name Synonyms

Secondary FlyBase IDs

References (1)

Report Sections

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