Open Close
General Information
Symbol
Dmel\shi2
Species
D. melanogaster
Name
FlyBase ID
FBal0015611
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Also Known As
shits2, shibirets2, shi2ts
Allele class
Nature of the Allele
Allele class
Mutations Mapped to the Genome
 
Type
Location
Additional Notes
References
point mutation
Nucleotide change:

G15895035A

Reported nucleotide change:

G?A

Amino acid change:

G141S | shi-PA; G141S | shi-PB; G141S | shi-PC; G141S | shi-PE; G141S | shi-PF; G141S | shi-PG; G141S | shi-PH; G141S | shi-PI; G141S | shi-PJ; G141S | shi-PK; G141S | shi-PL; G141S | shi-PM; G141S | shi-PN; G141S | shi-PO; G141S | shi-PP

Amino acid change:

G141S | shi-PA; G141S | shi-PG; G141S | shi-PO; G141S | shi-PN; G141S | shi-PM; G141S | shi-PK; G141S | shi-PJ; G141S | shi-PF; G141S | shi-PE; G141S | shi-PB; G141S | shi-PI; G141S | shi-PH; G141S | shi-PP; G141S | shi-PC; G141S | shi-PL

Reported amino acid change:

G141S

Reported amino acid change:

G?S

Comment:

Site of nucleotide substitution in mutant inferred by FlyBase based on reported amino acid change.

Comment:

Site of mutation reported relative to shi aa sequence.

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

Amino acid replacement: G141S.

Nucleotide substitution G to A, resulting in the amino acid replacement: Gly to Ser.

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
ameliorates  epilepsy
Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
 
Phenotypic Data
Phenotypic Class
Phenotype Manifest In

abdominal 2 ventral longitudinal muscle & larval somatic muscle | conditional ts

actin filament & spermatid | conditional ts

larval somatic muscle & presynaptic membrane | conditional ts

larval somatic muscle & synaptic vesicle | conditional ts

macrochaeta & thorax | conditional ts

mesothoracic tergum & macrochaeta

microchaeta & thorax | conditional ts

wing & macrochaeta

Detailed Description
Statement
Reference

shi2/Df(1)sd72b mutants are partially lethal. Surviving adults do not exhibit seizure activity at any voltage range of high frequency stimulation in the brain, unlike wild type.

When shi2 embryos are fixed at the restrictive temperature, metaphase actin rings are often incompletely formed and some rings surround more than one condensed mass of DNA. Approximately 25% of metaphase furrows in shi2 embryos are lost at the restrictive temperature in patches across each embryo, and those furrows present surround many DNA elements, unlike in controls. These two phenotypes overlap: regions of embryos lacking actin rings also lack plasma membrane furrows. Incidences of abnormal tripolar spindles are also seen in temperature-restricted shi2 embryos relative to wild-type embryos.

Temperature-restricted shi2 embryos in interphase both disrupts plasma membrane polarity and leads to loss of plasma membrane compartmentalization across the embryo.

Abnormal sprouting of filopodium-like projections can be seen in some tracheal cells in mutant embryos at the restrictive temperature. Tracheal cells of mutants at the restrictive temperature show moderate ectopic migration defects in 72% of embryos, and show severe ectopic migration defects in 19% of embryos. Mutant embryos at the restrictive temperature have tracheal lumen defects, with ectopic, tortuous tracheal branches.

Homozygous embryos raised at the restrictive temperature for 7 hours (after 7 hours of development at 25[o]C) show ectopic branching in the tracheal network.

At 25[o]C, shi2 embryos show normal salivary gland development. However, if shi2 embryos are shifted to the restrictive temperature of 30[o]C, then embryos are seen in which the salivary gland either fails to turn posteriorly or does not complete its posterior migration.

Shifting 2-day-old shi2 adults to 29oC for 11 hours results in a reduction of F-actin density in the investment cones of spermatid individualization complexes. A 16 hour heat pulse results in actin density being undetectable in these cones.

After 2 minutes at 29 oC, 0% of shi2 flies remain standing, compared to 100% of control flies.

Synaptic vesicle endocytosis (examined in synapses innervating larval muscle fibres) is completely blocked in shi2 flies stimulated at 33 oC.

Unlike wild type, shi2 nerve terminals (recorded from larval bodywall muscle 6 within A2) exhibit synaptic depression (as a result of use-dependent depletion of synaptic vesicles) when stimulated at 10 Hz at 30 oC.

The heartbeat of homozygous or hemizygous pupae is increasingly slower and more arrhythmic than wild type with increasing temperature. The severity of the phenotype increases uniformly as the temperature rises. The phenotype is recessive.

Mutant flies are paralysed at 27oC.

Mutant flies show tight and complete paralysis in 2 minutes at 28oC. High frequency stimulation of the larval neuromuscular junction (NMJ) at 30oC results in a rapid decline in synaptic transmission (wild-type NMJs can maintain synaptic transmission at this temperature for several minutes). At 28oC, the mutant NMJ shows only a slight depression relative to wild type.

At the non-permissive temperature, a decline of synaptic current amplitude is seen during 400 s 10 Hz tetanic stimulation of neuromuscular junctions.

Mutant shi2 flies paralyze within 2 minutes at 28oC; at lower temperatures, shi2 flies take a longer time to paralyze.

Homozygotes and shi2/shi20 flies are paralysed at a temperature of 27.5oC and 26.5oC respectively.

At the permissive temperature (25oC) hemizygous males develop and behave normally. At the restrictive temperature (29oC) hemizygous males become paralysed and uncoordinated movements can be observed. shi2; α-Adaptin3/α-Adaptin+ males are indistinguishable from wild type at 18oC but at 25oC males can neither fly or walk and they show sporadic and uncoordinated movements.

When shi2 pupae are exposed to 31oC for 10-16 hours after puparium formation (APF), the majority of sensory units of the third antennal segment are composed of single or two cell clusters, in contrast to the control flies, which have sensory units mostly composed of three cells. Sensory development in the anlage of the second antennal segment and the wing disc is comparable to control flies. These pupae give rise to adults with a significant reduction in the number of sensilla basiconica, trichodea and coelonica on the third antennal segment. Temperature pulses between 0 and 8 hours APF have no effect on the sensilla founder cell selection process in the antennal discs, although extra sensory organ precursors are seen in the wing and notum, which give rise to ectopic bristles. Temperature pulses between 14 and 24 hors APF result in a conversion of trichogen and tormogen cells of the macrochaetae and microchaetae to neurons.

Sub-anaesthetic concentration of carbon dioxide specifically suppresses the temperature sensitive paralytic phenotype. Sub-anaesthetic concentration of carbon dioxide also rapidly reverses paralysis induced at the restrictive temperature. The effect depends on the absolute concentration of CO2 rather than the ratio with oxygen.

Synapse inhibition of dye uptake is seen at 34oC.

Weak eye phenotype is observed at 32oC, slight disorganisation. A strong eye phenotype is observed at 34oC. Six hour 34oC pulses to pupae aged 32 hours at 22oC cause almost total elimination of the thoracic macro and microchaetae. Heat pulses also cause dramatic disorganisation of bristles at the anterior wing margin, dorsal and ventral bristles appear to be missing or duplicated. 34oC heat pulses to flies 32 hours after pupation results in adults with holes in their wing blades. A 32-38 hour window defines a critical period for a shi-dependent step in wing blade formation.

shi2/shi4 flies become paralysed very slowly at 29oC or 27oC compared to shi2 or shi4 homozygotes. Some shi2/Df(1)sd72b flies survive. They become paralysed at 24oC, and are weak and sluggish at 22oC. They also show bang-sensitive paralysis.

temperature-sensitive temperature of adult paralysis: 29oC temperature of larval paralysis: 31oC temperature causing developmental defects: 31oC viability of allele over deficiency: strong

External Data
Interactions
Show genetic interaction network for Enhancers & Suppressors
Phenotypic Class
Enhanced by
Statement
Reference

shi2 has paralytic | heat sensitive phenotype, enhanceable by Ppt1S77F

shi2 has paralytic | heat sensitive phenotype, enhanceable by sesBorg

shi2 has paralytic | heat sensitive phenotype, enhanceable by awdMSF15

shi2 has paralytic | temperature conditional phenotype, enhanceable by awdCM47

shi2 has paralytic | temperature conditional phenotype, enhanceable by awdMSF15

shi2 has paralytic | temperature conditional phenotype, enhanceable by awdMSM95

shi2 has paralytic | heat sensitive phenotype, enhanceable by stnB6/stnA6

shi2 has paralytic | heat sensitive phenotype, enhanceable by hook11

NOT Enhanced by
Statement
Reference

shi2 has paralytic | heat sensitive phenotype, non-enhanceable by sesB1

NOT suppressed by
Statement
Reference

shi2 has paralytic | heat sensitive phenotype, non-suppressible by sesB1

Enhancer of
Statement
Reference

shi2 is an enhancer of visible | recessive phenotype of lqfFDD9

shi2/shi2 is an enhancer of visible phenotype of fafFO8/fafBX3

NOT Enhancer of
Statement
Reference

shi2 is a non-enhancer of paralytic phenotype of dor4

Suppressor of
Statement
Reference

shi2/shi2 is a suppressor | partially of bang sensitive phenotype of jusiso7.8

NOT Suppressor of
Statement
Reference

shi1/shi2 is a non-suppressor of bang sensitive phenotype of parabss1

Phenotype Manifest In
Enhanced by
Statement
Reference

shi2 has embryonic/larval tracheal system phenotype, enhanceable by Pu[+]/PuZ22

shi2 has actin filament & spermatid | conditional ts phenotype, enhanceable by ctpins1

shi2 has actin filament & spermatid | conditional ts phenotype, enhanceable by ctpDIIA82

NOT Enhanced by
Statement
Reference
Enhancer of
Statement
Reference
Other
Statement
Reference

Mtl[+]/MtlΔ, Rac1J11/Rac1[+], Rac2Δ/Rac2[+], shi2 has presumptive embryonic salivary gland | heat sensitive phenotype

Additional Comments
Genetic Interactions
Statement
Reference

shi1/shi2 does not significantly rescue the bang sensitive phenotype of parabss1/+ mutants at 23[o]C.

shi2/shi2 partially rescues the bang sensitive phenotype of sdaiso7.8/sdaiso7.8 mutants both at 23[o]C and when incubated at 26[o]C or 27[o]C before testing.

shi2-Ppt1S77F double mutants paralyze significantly faster when shifted to 27[o]C than do shi2 single mutants.

The penetrance and severity of the ectopic tracheal migration phenotype is increased in PurAA17/+ shi2 double mutant embryos compared to either single mutant.

The penetrance and severity of the ectopic tracheal migration phenotype is increased in PuZ22/+ shi2 double mutant embryos compared to either single mutant.

shi2 Rac1J11 Rac2Δ MtlΔ heterozygous embryos form normal salivary glands at the permissive temperature of 25[o]C. However, at the restrictive temperature of 30[o]C, posterior migration of the salivary gland is disrupted.

The F-actin density in the investment cones of spermatid individualization complexes is further decreased following a heat pulse of 11 hours in ctpins1, shi2 and ctpDIIA82, shi2 double mutants compared to shi2 single mutants.

sesBorg lowers the temperature at which 100% of shi2 flies are paralysed in 3 minutes, from 28oC to 26oC.

awdMSF15 reduces the temperature threshold for paralysis by 6oC in shi2 mutant flies.

The temperature at which 100% of shi2 flies are paralysed is reduced if they also carry awdMSM95, awdCM47 or awdMSF15.

shi2 stnA6 stnB6 flies undergo complete paralysis in 2 minutes at 26oC. At 28oC, stnA6 stnB6 causes a marked enhancement of the weak neuromuscular junction depression seen in shi2 single mutants. At 30oC, there is no detectable effect of stnA6 stnB6 on depression.

The lqfFDD9 phenotype is enhanced if the flies are also homozygous for shi2. The fafBX3/fafFO8 phenotype is slightly enhanced if the flies are also homozygous for shi2.

Comparison of paralysis of shi2 dor4 and shi2 hk11 double mutants with shi2 homozygotes at 26, 27, and 28oC reveals no striking differences in behaviour at all temperatures. shi2 hk11 flies tend to paralyze approximately 30 seconds faster than shi2 flies at 26, 27, and 28oCV. Recovery from shi2 paralysis was also similar in shi2 dor4 and shi2 hk11 double mutants compared to shi2 mutants.

Thirty-seven percent of shi2; Scer\GAL4GMR.PF CblDv.Scer\UAS wings exhibit an ectopic vein phenotype, moreso than in Scer\GAL4GMR.PF CblDv.Scer\UAS mutants.

Xenogenetic Interactions
Statement
Reference
Complementation and Rescue Data
Images (0)
Mutant
Wild-type
Stocks (2)
Notes on Origin
Discoverer

Grigliatti.

Comments
Comments

Order of temperature sensitivity in the hemizygous condition: shi4 > shi21 > shi1 > shi2. Order of temperature sensitivity in the homozygous condition: shi21 = shi1 > shi4 >= shi2. Order of temperature sensitivity of heteroallelic combinations: shi2/shi21 = shi1/shi21 >= shi4/shi21 > shi1/shi2 = shi1/shi4 >> shi2/shi4.

External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (8)
References (46)