Phenotypes Associated with This Genotype

Genotype
MGI:5140029

• Allelic Composition: Tg(Thy1-GLRA1*R271Q)300Wha/0
• Genetic Background: involves: C57BL/6 * DBA/2

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

reproductive system

reduced fertility ( J:76009 )

behavior/neurological

impaired righting response ( J:76009 )

hyperekplexia ( J:76009 )

limb grasping ( J:76009 , J:173399 )

• clench hindfeet when lifted by the tail (J:173399)

tremors ( J:76009 )

• mice exhibit spontaneous and handling-induced tremors unlike wild-type mice

• mice exhibit larger amplitude, but similar frequency, of tremors compared with Glrb^spa

abnormal gait ( J:173399 )

• somewhat stiffened gait when moving quickly

abnormal sleep behavior ( J:173399 )

• 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

abnormal sleep pattern ( J:173399 )

• spend less time in NREM sleep

• treatment with melatonin restores sleep wake amounts

fragmentation of sleep/wake states ( J:173399 )

• profound sleep fragmentation

• number of NREM episodes is increased by 89%

muscle

abnormal muscle physiology ( J:173399 )

• 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

abnormal muscle tone ( J:173399 )

• elevated muscle tone in the masseter and hindlimbs during waking

• treatment with Clonazepam or melatonin reduces muscle tone

nervous system

abnormal brain wave pattern ( J:173399 )

• shift in EEG power to lower frequencies during waking and NREM sleep

abnormal inhibitory postsynaptic currents ( J:76009 )

• 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	J:76009
REM sleep behavior disorder		DOID:9091		J:173399