FlyBase Allele Report: Dmel\tw[1]

General Information

Symbol

Dmel\tw¹

Species

D. melanogaster

Name

FlyBase ID

FBal0017282

Feature type

allele

Associated gene

Dmel\tw

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

hypomorphic allele - genetic evidence

Mutagen

Nature of the Allele

Allele class

hypomorphic allele - genetic evidence

(Lyalin et al., 2006)

Mutagen

Progenitor genotype

Cytology

Description

Residue T59 has been replaced with two amino acid residues (GS). This lesion is within the conserved PMT domain.

(Lyalin et al., 2006)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

delins

X:785,153..785,154 [+]

Inserted_sequence:

AGGAT

Comment:

In the tw[1] mutant, residue amino acid T59 has been replaced by GS.

(Lyalin et al., 2006)

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

model of muscular dystrophy-dystroglycanopathy

is exacerbated by Ptp69D¹

(Monagas-Valentin et al., 2023)

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal developmental rate

(Davis, 1980, Davis, 1975)

decreased body size

(Davis, 1980, Davis, 1975)

partially lethal - majority live

(Davis, 1980, Davis, 1975)

Phenotype Manifest In

abdomen

(Davis, 1980, Davis, 1975)

adult abdomen

(Lyalin et al., 2006)

adult abdomen | female (with Df(1)su(s)83)

(Lyalin et al., 2006)

muscle attachment site | third instar larval stage

(Haines et al., 2007)

sarcomere | third instar larval stage

(Haines et al., 2007)

Detailed Description

Statement

Reference

Muscle attachment defects are observed in tw¹ mutant third instar larvae.

(Haines et al., 2007)

tw¹ homozygous males and females have abdomens that are rotated by 20-40^o along the anterioposterior axis. The phenotype is enhanced in tw¹/Df(1)su(s)83 females, but completely rescued in tw¹/Dp(1;Y)y²sc males.

(Lyalin et al., 2006)

Abdomens of males and females twisted about 30^oC clockwise, as viewed from the posterior. Body tends to be dwarfed. Viability reduced; hatching delayed. Males usually fertile. 1% nondisjunction for homologs in males. Viability: 60%.

(Davis, 1980, Davis, 1975)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

NOT Enhancer of

Statement

Reference

tw¹ is a non-enhancer of lethal | early third instar larval stage phenotype of Dg³²³

(Haines et al., 2007)

Phenotype Manifest In

NOT suppressed by

Statement

Reference

tw¹ has phenotype, non-suppressible by su(Hw)²

(Lindsley and Grell, 1968)

Enhancer of

Statement

Reference

tw¹ is an enhancer of larval muscle system | third instar larval stage phenotype of rt²/rt^P

(Haines et al., 2007)

tw¹ is an enhancer of muscle attachment site | third instar larval stage phenotype of rt²/rt^P

(Haines et al., 2007)

tw¹ is an enhancer of sarcomere | third instar larval stage phenotype of rt²/rt^P

(Haines et al., 2007)

tw¹ is an enhancer of larval muscle system | third instar larval stage phenotype of rt²

(Haines et al., 2007)

tw¹ is an enhancer of muscle attachment site | third instar larval stage phenotype of rt²

(Haines et al., 2007)

NOT Enhancer of

Statement

Reference

tw¹ is a non-enhancer of larval muscle system | early third instar larval stage phenotype of Dg³²³

(Haines et al., 2007)

tw¹ is a non-enhancer of muscle attachment site | early third instar larval stage phenotype of Dg³²³

(Haines et al., 2007)

tw¹ is a non-enhancer of sarcomere | early third instar larval stage phenotype of Dg³²³

(Haines et al., 2007)

Suppressor of

Statement

Reference

tw[+]/tw¹ is a suppressor of adult abdomen phenotype of rt^P

(Lyalin et al., 2006)

tw[+]/tw¹ is a suppressor of adult abdomen phenotype of rt^P/rt^EP571

(Lyalin et al., 2006)

tw[+]/tw¹ is a suppressor of adult abdomen phenotype of rt^EP571

(Lyalin et al., 2006)

Other

Statement

Reference

Dg²⁴⁸, tw[+]/tw¹ has muscle attachment site | third instar larval stage phenotype

(Haines et al., 2007)

Additional Comments

Genetic Interactions

Statement

Reference

An increased number of muscle attachment defects are observed in tw¹;rt² mutant third instar larvae compared to rt² mutants. Sarcomeres are larger than in wildtype animals.

A greater number of muscle attachment defects are observed in tw¹;rt²/rt^P mutant third instar larvae compared to wildtype and rt²/rt^P. Sarcomeres are larger than in control animals.

tw¹/+;Dg²⁴⁸/+ third instar larvae show muscle attachment defects but normal sized sarcomeres.

tw¹/Y;Dg³²³/Dg³²³ larvae show changes in sarcomere size and muscle attachment defects. Larvae survive until early third instar.

A greater number of muscle attachment defects are observed in tw¹; rt²/rt^P mutant third instar larvae compared to rt²/rt^P mutants. Sarcomeres are larger than in wildtype animals.

(Haines et al., 2007)

The rotated abdomen phenotype is suppressed in tw¹/Y; rt^EP571 flies.

(Lyalin et al., 2006)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Rescued by

tw¹ is rescued by Scer\GAL4^Act5C.PI/tw^UAS.Tag:HA

(Lyalin et al., 2006)

Comments

Images (0)