Slc6a5trsl is a single nucleotide point substitution that provides a viable model for recessive hyperkplexia 3. This recessive spontaneous mutation causes smaller overall body size, tremor, seizures and increased juvenile lethality in homozygotes.Read More +
Slc6a5trsl is a single nucleotide point substitution that provides a viable model for recessive hyperkplexia 3. Mice homozygous for the Slc6a5trsl point substitution can generally be identified by two weeks of age by their smaller body size and tremor. By three weeks of age homozygotes display tonic seizures of varying intensities when the cage lid is lifted or they are touched. Some seizures are severe enough that the mouse lies prone on its side with stiffened limbs and a whole body tremor, while others are more subtle. After a seizure, homozygotes often walk with a stiffened gait. All die prematurely, with many dying at approximately four to five weeks of age, but some survive into adulthood and even breed. Those that survive into adulthood generally have a milder phenotype as adults than young homozygotes do. This single nucleotide point substitution provides a viable model for recessive hyperekplexia 3.
The Slc6a5trsl mutation arose spontaneously in a mutated subline of C57BL/6J that carried an ENU-induced mutation generated a decade earlier. That mutation was bred out by backcrossing to C57BL/6J and embryos for this Slc6a5trsl coisogenic strain were generated for cryopreservation from heterozygous males bred to C57BL/6J females.
|Allele Name||tremor with stiff legged walk|
|Allele Type||Chemically induced (ENU) (Hypomorph)|
|Gene Symbol and Name||Slc6a5, solute carrier family 6 (neurotransmitter transporter, glycine), member 5|
|Strain of Origin||C57BL/6J|
|Molecular Note||A single G-to-A point transition at chromosome 7 position 49,917,609 (GRCm38/mm10) causes the codon change of atG to atA resulting in the change of methionine to isoleucine in a transmembrane domain, p.M278I in NP_001139485.1 and p.M2701I in NP_683733.2.|