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Phenotypes Associated with This Genotype
involves: 129P2/OlaHsd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc6a5tm1Betz mutation (0 available); any Slc6a5 mutation (43 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
• homozygotes die around the end of the second week after birth, exhibiting a complex neuromotor phenotype
• death is probably due to an inability to feed, desiccation, and continued convulsions

• homozygotes display normal birth weights but gain weight more slowly than wild-type littermates postnatally

• at P10, most homozygotes display a severely impaired righting response
• when turned on their backs, homozygotes consistently fail to turn themselves and regain the upright position
• after 1 week of life, homozygotes exhibit a lethal neuromotor disorder characterized by muscular spasticity, tremor, and an inability to right
• when lifted by the tail, homozygotes clasp their hindfeet between episodes of tremor, whereas wild-type and heterozygous control mice tend to move heavily while spreading out their legs
• at P10, all homozygotes develop strong spontaneous tremors, as revealed by the high amplitudes of electromechanical tracings of tremor-derived movement recordings
• only a very low number of homozygotes show spasticity and tremors at P9

• at P10, most homozygotes exhibit spasticity and a rigid muscle tone
• usually, signs of increased muscle tone are already evident at P8
• however, no histological changes are detected in skeletal muscle at P10

nervous system
• at P10, homozygotes display normal brain stem and spinal cord histology relative to wild-type mice
• despite low glycine transport activity in caudal regions of the CNS, homozygotes show no compensatory changes in the expression and synaptic localization of glycine transport-related synaptic proteins
• homozygotes exhibit impaired transport of extracellular glucine into presynaptic boutons
• homozygotes display a significant reduction in the mean amplitude and frequency of glycinergic IPSCs recorded from hypoglossal motoneurons in situ at P8 and P9
• in the presence of 0.5 uM tetrodotoxin and 100 mM sucrose, homozygotes display a significant reduction in the mean amplitude and frequency of glycinergic mIPSCs recorded from hypoglossal motoneurons in situ at P8 and P9; however, the kinetics of mIPSC decay remain relatively unchanged
• in the presence of 0.5 uM tetrodotoxin, homozygotes show a ~42% reduction in the peak amplitude of the average glycinergic mIPSC recorded from cultured spinal neurons after 21 days of vitro differentiation; however, the burst frequency and decay kinetics of glycinergic mIPSCs remain relatively unchanged

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
hyperekplexia 3 DOID:0060698 OMIM:614618

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
MGI 6.19
The Jackson Laboratory