RyR16 is caused by a 6kb internal deletion.
1830 bp of genomic sequence is deleted downstream from the Rya-r44Fk04913 insertion. The deletion removes 1377 bp out of the 2847 bp second intron. A small insertion of 19 bp from the 5' end of the Rya-r44Fk04913 insertion remains.
Contains a deletion that extends from the P{lacW}Rya-r44Fk04913 insertion removing the second exon, including the translation start.
1830 bp of genomic sequence is deleted downstream from the k04913 insertion including 1377 bp of the 2847 bp second intron. There is
also a small insertion of 19 bp from the 5' end of the k04913 P element.
lethal (with Df(2R)BSC269)
RyR16 homozygous embryos do not show any obvious somatic musculature phenotype, as compared to controls.
Reducing cytosolic Ca[2+] levels with one copy of RyR16 results in increased resistance to paraquat intoxication compared to controls. Increased survival rates are seen at 24 and 48 hours after ingestion.
Heterozygous RyR16 mutant flies exhibit diminished cardiac function independent of heat shock. No heat-shock induced paralysis is observed and heart rate is similar to controls.
Body wall contraction (BWC) rates of homozygous larvae on an agar substrate are significantly reduced compared to wild type.
Homozygous Rya-r44F16 larvae appear to develop normally, but appear smaller and rounder than wild-type, and the head does not extend properly. When Body Wall Contractions (BWCs) are assayed in homozygous Rya-r44F16 larvae, the timing of BWC initiation appears normal, but contraction propagate more slowly than in wild-type, such that the rate of BWC is reduced by 50%. Furthermore contraction in these animals is attenuated and often has associated tremors. Mutant larvae ingest their food much more slowly than wild-type and accumulate food in the pharynx. They also fail to excrete and defecate digested food much more slowly than wild-type. In Rya-r44F16 homozygous larvae, the heart rate is reduced by about 75% relative to heterozygotes. This is caused by loss of fast fibrillating contractions but not an increase in pausing. the overall behaviour of homozygous Rya-r44F16 larvae is indistinguishable from wild-type; they detect and migrate to food sources, have an enhanced rate of food ingestion after starvation, have normal salt avoidance and response to mechanical stimulation and show no spontaneous avoidance behaviour. BrdUrd labelling of Rya-r44F16 brains show that cell cycle progression is normal in these mutants. About 60% of Rya-r44F16/Df(2R)Np3 embryos fail to hatch. In larvae, the rate of BWC is reduced by 90%. In homozygous mutant clones in the eye appear morphologically normal, and whole cell, voltage clamp recordings on ommatidia show responses indistinguishable from wild-type. The progeny of homozygous germline clones are also indistinguishable from wild-type.
RyR16 has abnormal neuroanatomy | third instar larval stage | dominant phenotype, non-enhanceable by iavhypoB-1
RyR16 has abnormal neuroanatomy | dominant | third instar larval stage phenotype, non-suppressible by iavhypoB-1
RyR16/RyR[+] is an enhancer | female limited of partially lethal - majority die phenotype of Scer\GAL4elav-C155, cacRQ,SL.UAS.EGFP
RyR16 is a non-enhancer of abnormal neuroanatomy | third instar larval stage | dominant phenotype of iavhypoB-1
RyR16/RyR[+] is a suppressor of abnormal heat stress response | dominant phenotype of SERCAKum170
RyR16/RyR[+] is a suppressor of increased mortality during development phenotype of Hsap\APP2xAPP.SP.UAS, Scer\GAL4elav-C155
RyR16/RyR[+] is a non-suppressor of paralytic | dominant phenotype of SERCAKum170
Cam7/Camn339, RyR16 has abnormal locomotor behavior phenotype
Cam7/Camn339, RyR16/Rya-r44F[+] has abnormal locomotor behavior phenotype
RyR16 has NMJ bouton | third instar larval stage | decreased number phenotype, non-enhanceable by iavhypoB-1
RyR16 has embryonic/larval hypodermal muscle cell | third instar larval stage phenotype, non-enhanceable by iavhypoB-1
RyR16 has NMJ bouton | third instar larval stage | decreased number phenotype, non-suppressible by iavhypoB-1
RyR16 has embryonic/larval hypodermal muscle cell | third instar larval stage phenotype, non-suppressible by iavhypoB-1
RyR16 is a non-enhancer of NMJ bouton | third instar larval stage | decreased number phenotype of iavhypoB-1
RyR16 is a non-enhancer of embryonic/larval hypodermal muscle cell | third instar larval stage phenotype of iavhypoB-1
RyR16/RyR[+] is a suppressor of adult heart phenotype of SERCAKum170
RyR16/RyR[+] is a suppressor of eye phenotype of Hsap\APP2xAPP.SP.UAS, Scer\GAL4GMR.PF
RyR16/RyR[+] is a suppressor of retina phenotype of Hsap\APP2xAPP.SP.UAS, Scer\GAL4GMR.PF
RyR16/RyR[+] is a suppressor of photoreceptor neuron phenotype of Hsap\APP2xAPP.SP.UAS, Scer\GAL4GMR.PF
RyR16/Rya-r44F[+] is a suppressor of adult head phenotype of Cam7/Camn339
RyR16/Rya-r44F[+] is a suppressor of pupal cuticle phenotype of Cam7/Camn339
RyR16 partially suppresses the phenotypes seen in heterozygous Ca-P60AKum170 mutant flies in response to heat shock. The paralysis is still present but the increase in heart rate and defect in cardiac function are both suppressed. End diastolic dimensions and fractional shortening are also unchanged compared to Ca-P60AKum170 alone.
Rya-r44F16/+ rescues the pupal defects and lethality of Cam7/Camn339 animals; the pupae are smooth and indentation free in the anterior and only have mild ridges in the posterior, their length:width ratios are actually higher than wild type, more than 40% of the pupae eclose and those that do not eclose do not show head defects. Some of the eclosed animals do not show wing expansion and they all perform poorly in a climb test.
A heterozygous RyR16 background significantly suppresses the eye degeneration seen upon expression of Hsap\APP2xAPP.SP.Scer\UAS under the control of Scer\GAL4GMR.PF. Sixty percent of the flies expressing only Hsap\APP2xAPP.SP.Scer\UAS show a highly disorganised eye surface and short retina with small photoreceptors. On the other hand, 62% of the flies with a heterozygous RyR16 background exhibit mild eye disorganisation with well-developed retinae and long photoreceptors. There is a significant improvement in eye organisation in flies carrying RyR16.
Viability of flies expressing Hsap\APP2xAPP.SP.Scer\UAS in the CNS (under the control of Scer\GAL4elav-C155) is completely restored in a heterozygous RyR16 background.
Phenotypic analysis suggest the allelic series: Df(2R)Np3 > Rya-r44F16 > Rya-r44Fk04913.