Amino acid replacement: G141S.
Nucleotide substitution G to A, resulting in the amino acid replacement: Gly to Ser.
G15895035A
G?A
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
G141S
G?S
Site of nucleotide substitution in mutant inferred by FlyBase based on reported amino acid change.
Site of mutation reported relative to shi aa sequence.
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
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.
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.
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.
temperature-sensitive temperature of adult paralysis: 29oC temperature of larval paralysis: 31oC temperature causing developmental defects: 31oC viability of allele over deficiency: strong
shi2/shi2 is a suppressor of bang sensitive phenotype of jusiso7.8
shi1/shi2 is a non-suppressor of bang sensitive phenotype of parabss1
shi2 has larval tracheal system phenotype, enhanceable by Pu[+]/PurAA17
shi2 has larval tracheal system phenotype, enhanceable by Pu[+]/PuZ22
shi2 has neuromuscular junction phenotype, enhanceable by stnB6/stnA6
shi2 is an enhancer of larval tracheal system phenotype of PurAA17
shi2 is an enhancer of larval tracheal system phenotype of PuZ22
shi2 is an enhancer of wing vein | ectopic phenotype of CblDv.UAS, Scer\GAL4GMR.PF
Mtl[+]/MtlΔ, Rac1J11/Rac1[+], Rac2Δ/Rac2[+], shi2 has presumptive embryonic salivary gland | heat sensitive phenotype
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.
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.
Grigliatti.
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.