| 39844 |
Q9VV74 |
SMN_DROME |
Survival motor neuron protein |
DISRUPTION PHENOTYPE |
Embryos lacking maternal and zygotic Smn die between 0 and 4 hours after egg laying. Zygotic mutants never initiate pupation but instead persist as third instar larvae, often surviving at this stage for several days. Mutant larvae exhibit reduced CNS, testes and muscle size, decreased locomotion and altered rhythmic motor activity. At the NMJ, mutant larvae show an overall decrease in the number of synaptic boutons, but an increase in enlarged ones, loss of large glutamate receptor clusters and an aberrant increase in evoked excitatory postsynaptic potential (eEPSP) amplitude and in miniature EPSP frequency. Mutant larvae also show defective mira subcellular localization in pNBs. Mutant larvae show a decrease of spliceosomal snRNA levels and splicing defects in U12 intron-containing genes (PubMed:23063131). But appreciable splicing defects in U12 intron-containing genes are not observed in mutant larvae, although a decrease in spliceosomal snRNA levels is detected, in PubMed:22813737. RNAi-mediated knockdown in tracheal cells results in defective gas-filling lumen in terminal branches (PubMed:23029159). {ECO:0000269|PubMed:12783845, ECO:0000269|PubMed:17353360, ECO:0000269|PubMed:18791638, ECO:0000269|PubMed:19464282, ECO:0000269|PubMed:21490958, ECO:0000269|PubMed:22813737, ECO:0000269|PubMed:23029159, ECO:0000269|PubMed:23063130, ECO:0000269|PubMed:23063131}. |