FlyBase Allele Report: Dmel\Msp300[ΔKASH]

General Information

Symbol

Dmel\Msp300^ΔKASH

Species

D. melanogaster

Name

FlyBase ID

FBal0218007

Feature type

allele

Associated gene

Dmel\Msp300

Associated Insertion(s)

TI{TI}Msp300^ΔKASH

Carried in Construct

Also Known As

Msp-300^ΔKASH

Key Links

Genomic Maps

JBrowse

Allele class

Mutagen

Nature of the Allele

Allele class

Mutagen

recombination

(Xie and Fischer, 2008)

I-SceI

(Xie and Fischer, 2008)

FLPase

(Xie and Fischer, 2008)

ends-out gene targeting

(Xie and Fischer, 2008)

Progenitor genotype

Associated Insertion(s)

TI{TI}Msp300^ΔKASH

Cytology

Description

1086bp of Msp300 intron and exon sequences, which encode 150 amino acids including the entire KASH domain, have been replaced by a w[+] marker.

(Xie and Fischer, 2008)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

deletion

2L:5,204,338..5,205,423 [+]

Comment:

A 1086bp deltion of Msp300 intron and exon sequences that removes the KASH domain. A region encoding 150 amino acids is removed. Deletion coordinates provided by author.

(Xie and Fischer, 2008)

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 Emery-Dreifuss muscular dystrophy

CEA

(van der Graaf et al., 2024)

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 locomotor behavior | third instar larval stage

(Morel et al., 2014)

abnormal neurophysiology | third instar larval stage

(Morel et al., 2014)

abnormal size (with Msp300^3prime)

(Huelsmann et al., 2013)

male fertile

(Kracklauer et al., 2010)

Phenotype Manifest In

cytoplasmic microtubule | third instar larval stage

(Elhanany-Tamir et al., 2012)

egg (with Msp300^3prime)

(Huelsmann et al., 2013)

embryonic/larval hypodermal muscle cell | third instar larval stage

(Tan et al., 2018, Morel et al., 2014)

larval muscle system | third instar larval stage

(Elhanany-Tamir et al., 2012)

nucleus | third instar larval stage

(Tan et al., 2018, Morel et al., 2014, Elhanany-Tamir et al., 2012)

Detailed Description

Statement

Reference

Body wall muscles in Msp300^ΔKASH homozygous third instar larvae frequently show nuclei clustering together or in contact with each other, instead of the typically even spaced in controls.

(Tan et al., 2018)

Msp300^ΔKASH mutant third instar larvae display nuclear clustering in muscles and a significant deficit in larval locomotion (measured as distance crawled per unit of time), but their peristaltic contraction amplitude as well as instant speed is comparable to controls, but their locomotion behavior pattern is altered - when they move they spend higher proportion of time going straight ahead than wild-type, fraction of time spent in turning and searching is similar to controls. The mutant larvae however pause and stay completely immobile much more often than controls (almost 1/4 of total time) and their straight forward motion consists of significantly shorter forward sequences.

Msp300^ΔKASH mutant larvae also display reduced amplitude of evoked excitatory junction currents and quantal content at neuromuscular junctions (NMJs), whereas the amplitude of miniature excitatory junction currents is comparable to controls. The mutant NMJs display reduced density of GluRIIA-positive punctae but the density of one of the subunits shared between the type A and type B receptors, the GluRIIC protein, is not changed, suggesting the total number of receptors is not reduced.

(Morel et al., 2014)

Quantification of egg lengths reveals that Msp-300^ΔKASH/Msp-300^3prime mutant eggs are slightly smaller than wild-type eggs.

(Huelsmann et al., 2013)

The striated muscle in Msp-300^ΔKASH mutant third instar larvae exhibits aggregation of the myonuclei and aberrant nuclear shape, as well as variable nuclear size. However, as in wild type, the myonuclei are associated with myofibrillar domain. The network of astral microtubules becomes dissociated from the nuclear envelope.

(Elhanany-Tamir et al., 2012)

Msp-300^ΔKASH homozygotes are viable, fertile, and have externally normal eyes. R-cell and cone cell nuclei appear normally positioned in late pupal and adult Msp-300^ΔKASH eyes.

Msp-300^ΔKASH homozygous females are as fertile as wild-type controls, with nuclear positioning in both nurse cells and oocytes appearing normal. No cytoplasmic dumping defects, nor female sterility is observed in Msp-300^ΔKASH/Msp-300^sz75, Msp-300^ΔKASH/Df(2L)BSC109, or Msp-300^ΔKASH/Df(2L)Exel6011 trans-heterozygous mutants.

Msp-300^ΔKASH.w homozygotes are viable, fertile, and have externally normal eyes. R-cell and cone cell nuclei appear normally positioned in late pupal and adult Msp-300^ΔKASH.w eyes.

Msp-300^ΔKASH.w homozygous females are as fertile as wild-type controls, with nuclear positioning in both nurse cells and oocytes appearing normal. No cytoplasmic dumping defects, nor female sterility is observed in Msp-300^ΔKASH.w/Msp-300^sz75, Msp-300^ΔKASH.w/Df(2L)BSC109, or Msp-300^ΔKASH.w/Df(2L)Exel6011 trans-heterozygous mutants.

(Xie and Fischer, 2008)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

Msp300^ΔKASH has abnormal locomotor behavior | third instar larval stage phenotype, suppressible by GluRIIA^Mhc.Tag:MYC

(Morel et al., 2014)

Enhancer of

Statement

Reference

Msp300^ΔKASH is an enhancer of decreased fecundity | female phenotype of klar^marb-CD4

(Xie and Fischer, 2008)

NOT Enhancer of

Statement

Reference

Msp300^ΔKASH is a non-enhancer of female semi-sterile phenotype of klar^marb-CD4

(Xie and Fischer, 2008)

Phenotype Manifest In

Enhancer of

Statement

Reference

Msp300^ΔKASH is an enhancer of larval muscle system | third instar larval stage phenotype of klar^marb-CD4

(Elhanany-Tamir et al., 2012)

NOT Enhancer of

Statement

Reference

Msp300^ΔKASH is a non-enhancer of cone cell phenotype of klar^marb-CD4

(Xie and Fischer, 2008)

Msp300^ΔKASH is a non-enhancer of eye photoreceptor cell phenotype of klar^marb-CD4

(Xie and Fischer, 2008)

Msp300^ΔKASH is a non-enhancer of eye phenotype of klar^marb-CD4

(Xie and Fischer, 2008)

Additional Comments

Genetic Interactions

Statement

Reference

The larval locomotion deficit (reduced crawling ability) characteristic for Msp300^ΔKASH mutant third instar larvae is significantly rescued by combination with GluRIIA^{Mhc.T:Hsap\MYC} but only in about 60% of the larvae, the remaining 40% show no improvement of the locomotion phenotype.

(Morel et al., 2014)

In Msp-300^ΔKASH klar^marb-CD4 double mutant third instar larvae the myonuclei are aberrantly positioned. The phenotype is more severe than in either of the single mutants.

(Elhanany-Tamir et al., 2012)

Msp-300^ΔKASH; klar^marb-CD4 double mutants exhibit wild-type nuclear positioning in the oocyte/nurse cell complex, and there is no 'dumpless' phenotype in double mutant ovaries. The double mutant eye phenotype is like klar^marb-CD4 alone; double mutant eyes are not more severely malformed than klar^marb-CD4 eyes, and R-cell and cone cell nuclei are misplaced similarly in both.

The egg-laying defect of klar^marb-CD4 mutants is enhanced in females heterozygous for Msp-300^ΔKASH, and females homozygous for both klar^marb-CD4 and Msp-300^ΔKASH lay only a small fraction of the wild-type number of eggs. The fraction of the eggs from double mutant mothers that hatch, however, is similar to the fraction from klar^marb-CD4 mothers.

Msp-300^ΔKASH.w; klar^marb-CD4 double mutants exhibit wild-type nuclear positioning in the oocyte/nurse cell complex, and there is no 'dumpless' phenotype in double mutant ovaries. The double mutant eye phenotype is like klar^marb-CD4 alone; double mutant eyes are not more severely malformed than klar^marb-CD4 eyes, and R-cell and cone cell nuclei are misplaced similarly in both.

The egg-laying defect of klar^marb-CD4 mutants is enhanced in females heterozygous for Msp-300^ΔKASH.w, and females homozygous for both klar^marb-CD4 and Msp-300^ΔKASH.w lay only a small fraction of the wild-type number of eggs. The fraction of the eggs from double mutant mothers that hatch, however, is similar to the fraction from klar^marb-CD4 mothers.

(Xie and Fischer, 2008)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Comments

Images (0)

Mutant

Wild-type

Stocks (1)

Bloomington

26781

w^*; TI{TI}Msp300^ΔKASH

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (8)

Reported As

Symbol Synonym

MSP-300^ΔKASH

(Elhanany-Tamir et al., 2012)

Msp-300^ΔKASH.w

Msp-300^ΔKASH

(Morel et al., 2014, Huelsmann et al., 2013, Xie and Fischer, 2008)

Msp300^ΔKASH

(Morton et al., 2025, Unnikannan et al., 2020)

msp-300 KASH

(Elhanany-Tamir et al., 2012)

msp-300^ΔKASH

(Elhanany-Tamir et al., 2012)

msp300^dKASH

(Tan et al., 2018)

msp300^ΔKASH

(Kracklauer et al., 2010)

Name Synonyms

Secondary FlyBase IDs

References (10)

Report Sections

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