| First Author | Harris BS | Year | 2016 |
| Journal | MGI Direct Data Submission | Mgi Jnum | J:234690 |
| Mgi Id | MGI:5790609 | Citation | Harris BS, et al. (2016) Spasmodic oscillator 9 Jackson. MGI Direct Data Submission |
| abstractText | The recessive spasmodic oscillator 9 Jackson (Glra1<spd-ot9J>) mutation arose spontaneously in the B6.129S4-Ccl2<tm1Rol>/J strain at The Jackson Laboratory. Homozygotes are smaller than their littermates and have severe tonic-clonic seizures in which they lay prone on their side with a vibrating whole body tremor in which the legs are rigidly straight and pointed away from the body. This phenotype is first seen at around 2 weeks of age and homozygotes generally do not survive beyond 3 weeks of age. Eight phenotypic homozygotes were found of nineteen mice generated from progeny tested heterozygous intercrosses (42%). Histology on one homozygous female at 3 weeks of age, and one female and one male homozygote at 18 days of age found no distinct abnormalities. This mutation was mapped to Chromosome 11 between rs3686921 at 46,853,362 bp and rs3687284 at 103,389,294 bp (GRCm38) and exome sequencing identified a C to T transition at position 55,527,328 bp, which is predicted to cause an R197H point mutation in Glra1. The phenotype is consistent with that of the spasmodic oscillator mutation and other alleles of Glra1 and provides a model for recessive hereditary hyperekplexia-1. |
