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Phenotypes Associated with This Genotype
involves: C57BL/6 * DBA/2
Find Mice Using the International Mouse Strain Resource (IMSR)
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phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system

• clench hindfeet when lifted by the tail (J:173399)
• mice exhibit spontaneous and handling-induced tremors unlike wild-type mice
• mice exhibit larger amplitude, but similar frequency, of tremors compared with Glrbspa
• somewhat stiffened gait when moving quickly
• increased phasic motor activity during REM sleep
• sleep on their sides during REM sleep
• display brief repetitive EMG twitches and limb jerks during NREM sleep
• however, unlike in human patients with REM Sleep Behavior Disorder, muscle tone during REM is normal
• time spent in REM sleep is similar to wild-type mice
• spend less time in NREM sleep
• treatment with melatonin restores sleep wake amounts
• profound sleep fragmentation
• number of NREM episodes is increased by 89%

• robust increase in overall muscle activity during REM sleep
• frequency, duration, and amplitude of muscle twitches during REM sleep episodes increased by 268%, 86%, and 66%, respectively
• elevated muscle tone in the masseter and hindlimbs during waking
• treatment with Clonazepam or melatonin reduces muscle tone

nervous system
• shift in EEG power to lower frequencies during waking and NREM sleep
• mice treated with kynurenic acid and bicuculline exhibit decreased glycinergic component of the inhibitory postsynaptic currents compared with similarly treated wild-type mice
• mice treated with kynurenic acid and strychnine exhibit decreased GABAA-receptor component of the inhibitory postsynaptic currents compared with similarly treated wild-type mice

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
hyperekplexia 1 DOID:0060696 OMIM:149400
REM sleep behavior disorder DOID:9091 J:173399

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 6.22
The Jackson Laboratory