Exon 11 contains a 7bp duplication and frameshift. Prediction is that lesion would lead to a large deletion between predicted transmembrane segments 3 and 4.
central nervous system & motor neuron
Embryonic nmjs show no spontaneous synaptic currents. Glutamate applied directly to the postsynaptic muscle has no effect. Homozygous KaiRIA1 embryos, homozygous KaiRIA2 embryos and transheterozygous KaiRIA1/KaiRIA2 embryos have normal gross, epidermal and neuromuscular anatomy but fail to hatch and appear paralysed both within the eggshell and when artificially removed from the eggshell. No peristaltic somatic muscle movements occur. Presynaptic morphology is normal; nerves form normal branches to appropriate muscles. Amplitude of sustained rhythmic currents (SRCs) in CNS motor neurons is unchanged compared to wild type, however the frequency is reduced more than three fold. Incidence of motor neurons showing SRC activity is reduced from more than 90% to around 40%.
GluRIID2 has lethal | recessive | embryonic stage phenotype, non-suppressible by GluRIIAMhc.Tag:MYC
GluRIID2 has paralytic | recessive phenotype, non-suppressible by GluRIIAMhc.Tag:MYC
Separable from: Gad1A30.
Allelic series: KaiRIA1 = KaiRIA2 > KaiRIAP2 > KaiRIAP5 > KaiRIAP1. No KaiRIA is detectable from KaiRIA2 mutants. GluRIIA, GluRIIB and GluRIIC subunits are undetecteable at the KaiRIA2 mutant boutons.