Open Close
General Information
Symbol
Dmel\tinEC40
Species
D. melanogaster
Name
FlyBase ID
FBal0032861
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Key Links
Nature of the Allele
Mutations Mapped to the Genome
 
Type
Location
Additional Notes
References
Nucleotide change:

C21381606T

Reported nucleotide change:
Amino acid change:

Q344term | tin-PA

Reported amino acid change:

Q?term

Associated Sequence Data
DNA sequence
Protein sequence
 
 
Progenitor genotype
Cytology
Nature of the lesion
Statement
Reference

Nucleotide substitution: C?T.

Substitution occurs at the beginning of the 'recognition helix' of the homeodomain.

Amino acid replacement: Q?term.

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 ( 0 )
Disease
Interaction
References
Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
 
Disease-implicated variant(s)
 
Phenotypic Data
Phenotypic Class
Phenotype Manifest In

embryonic/larval heart & mesoderm

myofibril & adult dorsal vessel (with tin346), with tinABD

myofibril & larval dorsal vessel (with tin346), with tinABD

myofibril & larval heart (with tin346), with tinABD

transverse nerve & dorsal mesothoracic disc

transverse nerve & dorsal metathoracic disc

transverse nerve & dorsal prothoracic disc

Detailed Description
Statement
Reference

tinEC40/tinABD mutant embryos show cardioblast (CB) patterning defects.

tinEC40/+ flies do not exhibit a significantly increased pacing-induced heart failure rate.

The myofibrils of the dorsal vessel are arranged almost exclusively in an anterior-posterior orientation in tinABD ; tin346/tinEC40 larvae, in contrast to wild-type larvae where they are arranged spirally. In the posterior heart region of the dorsal vessel the pattern of myofibrils is highly irregular in the mutant larvae, forming abnormal cross-shaped or 'knotted' patterns. The aorta appears thinner than normal in the mutant larvae, whereas the heart frequently has a wider diameter than normal.

The heart tube is much thinner than normal in tinABD ; tin346/tinEC40 adults. The mutant myofibrils are arranged longitudinally and transverse spirally arranged myofibrils are almost completely absent.

tinABD ; tinABD tin346/tinEC40 adults show a dramatic increase in heart failure rate after pacing of the heart by external electrical stimulus compared to the heart failure rate of control adults. The recovery rate after heart failure is dramatically decreased in the mutant adults.

tinABD ; tinABD tin346/tinEC40 adults have a reduced lifespan compared to controls.

In tinEC40 mutant embryos, the lymph gland and heart fail to form.

Mutant embryos have defects in the forming mesoderm around the foregut, but do form foregut ectoderm. 65% of mutant embryos have excess cells in the dorsal midline of the b1 region of the embryonic brain; the area occupied by neuronal nuclei is increased compared to wild type. The preoral brain commissure is abnormally thin. At late embryonic stage 13, mutant embryos show a reduction in the number of apoptotic cells at the dorsal midline of the brain compared to wild type. The number of brain ganglionic mother cells is unaffected in stage 11 mutant embryos.

Mutant embryos have mild defects in the development of the tracheal dorsal trunk.

The ordered files of cells seen in wild-type midgut visceral muscle primordia are not seen in these mutant embryos. The meso18E staining cells appear to invaginate, however, movement towards the interior is ragged and no ordered file of cells form.

Visceral mesoderm and cardiac progenitors do not form in mutant embryos.

Heart and visceral mesoderm and a subset of the somatic muscle founders fail to form in tin mutant embryos.

Some homozygous embryos hatch and survive as first instar larvae, even though they have midgut and body wall muscle defects. They fail to grow and show lethargic behavior and large midguts. The transverse nerve is missing, as are the dorsal neurohemal organs. Both the dorsal and ventral lateral bipolar dendrite neuron are disrupted when the transverse nerve is not formed. Segmental nerve b target muscles are abnormally innervated, and this is often associated with the loss of some muscle fibres. Transverse nerve exit glial cell cannot be found.

Only small islands of visceral mesoderm remain. Those principle midgut epithelial cells that are in contact with the islands of visceral mesoderm assume an epithelial phenotype.

Lack visceral muscles of the midgut though not the hindgut. The midgut constriction fail to form. The heart fails to develop: cardioblasts are not formed. Somatic muscle pattern is moderately affected, with the most extreme defect in the dorsal-most muscles.

External Data
Interactions
Show genetic interaction network for Enhancers & Suppressors
Phenotypic Class
Phenotype Manifest In
Enhanced by
NOT Enhanced by
Statement
Reference

tinABD, tinEC40 has heart primordium phenotype, non-enhanceable by edlk06602

Suppressed by
Statement
Reference

tinEC40 has embryonic/larval heart & mesoderm phenotype, suppressible by Scer\GAL4twi.PB/Scer\GAL4Mef2.PR/tin::Mmus\Nkx2-5UAS.HDs

tinEC40 has embryonic/larval heart & mesoderm phenotype, suppressible by Scer\GAL4twi.PB/tin::Mmus\Nkx2-5UAS.tin-Nkx/Scer\GAL4Mef2.PR

tinEC40 has embryonic/larval heart & mesoderm phenotype, suppressible by Scer\GAL4twi.PB/Scer\GAL4Mef2.PR/tin::Mmus\Nkx2-5UAS.tin-HD,Nkx

tinEC40 has embryonic/larval heart & mesoderm phenotype, suppressible by Scer\GAL4twi.PB/Scer\GAL4Mef2.PR/tin::Mmus\Nkx2-5UAS.tin.1-220

tinEC40 has embryonic/larval heart & mesoderm phenotype, suppressible by tin::Mmus\Nkx2-5UAS.tin.1-134/Scer\GAL4twi.PB/Scer\GAL4Mef2.PR

tinEC40 has embryonic/larval heart & mesoderm phenotype, suppressible | partially by Scer\GAL4twi.PB/Mmus\Nkx2-5UAS.ΔNK/Scer\GAL4Mef2.PR

tinEC40 has embryonic/larval heart & mesoderm phenotype, suppressible | partially by Scer\GAL4twi.PB/Scer\GAL4Mef2.PR/Mmus\Nkx2-5UAS.cRa

tinEC40 has embryonic/larval heart & mesoderm phenotype, suppressible | partially by tin::Mmus\Nkx2-5UAS.1-53:54-319/Scer\GAL4twi.PB/Scer\GAL4Mef2.PR

NOT suppressed by
Enhancer of
Suppressor of
Statement
Reference
Other
Statement
Reference

Cdc42[+]/Cdc423, tinEC40 has adult heart phenotype

Additional Comments
Genetic Interactions
Statement
Reference

The cardioblast patterning defects observed in tinEC40/tinABD mutant embryos are not modified by edlk06602.

tinEC40/+; Cdc423/+ double heterozygotes exhibit a significantly increased pacing-induced heart failure rate.

The addition of zfh175.26 or zfh165.34 to tinEC40 mutants leads to a tracheal dorsal trunk that is almost completely absent.

Xenogenetic Interactions
Statement
Reference

The formation of pericardial cells is restored when tin::Mmus\Nkx2-52.5HD-NK2SD.hs is expressed in tinEC40 embryos at 3.5 to 4.5 hours of development, although the cells are in a disorganised pattern.

Effect on visceral mesoderm can be rescued by Mmus\Nkx2-5Scer\UAS.cRa expression but not Rnor\TTF-1Scer\UAS.cRa nor bapScer\UAS.cRa. tin::Mmus\Nkx2-5Scer\UAS.1-53:54-319 and tinScer\UAS.ΔC fully rescue visceral mesoderm defect but only partially rescue cardiac mesoderm defects of tinEC40. Mmus\Nkx2-5Scer\UAS.cRa and tin::Mmus\Nkx2-5Scer\UAS.Nkx-tin partially suppress the visceral mesoderm defect but do not suppress the cardiac mesoderm defects of tinEC40. Mmus\Nkx2-5Scer\UAS.ΔNK partially suppresses both the visceral and the cardiac mesoderm defects of tinEC40.

Complementation and Rescue Data
Comments

tinScer\UAS.Δ43-123 fully rescues visceral mesoderm defect but only partially rescues cardiac mesoderm defects of tinEC40.

Images (0)
Mutant
Wild-type
Stocks (1)
Notes on Origin
Discoverer

Mohler and Pardue.

External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (2)
References (28)