Phenotypes Associated with This Genotype

Genotype
MGI:4949137

• Allelic Composition: Hcrt^tm1Ywa/Hcrt^tm1Ywa
• Genetic Background: involves: 129S6/SvEvTac

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

behavior/neurological

abnormal gait ( J:83817 )

• gait disturbances immediately precede 42% of abrupt arrests in activity during a narcoleptic episode, but never precede gradual arrests

abnormal sleep pattern ( J:83817 )

• wakefulness is disrupted, with mice showing higher frequencies of awake episodes during the light and dark phases and severely diminished durations of wakefulness episodes over the entire dark phase

abnormal non-rapid eye movement sleep pattern ( J:83817 )

• non-REM sleep is disrupted, with mice showing higher frequencies of non-REM sleep episodes during the dark phase and a reduction in durations of non-REM sleep, especially at night

abnormal paradoxical sleep pattern ( J:83817 )

• mice show a reduced mean interval between REM sleep episodes during the dark phase and reduced latencies to REM sleep during both phases

increased frequency of paradoxical sleep ( J:83817 )

• 75% increase in the amount of time in REM sleep over the entire dark period and a compensatory reduction during the light phase

fragmentation of sleep/wake states ( J:170824 )

• wake and non-REM sleep bouts are shorter and more frequent

narcolepsy ( J:83817 )

• episodes of abrupt cessation of purposeful activity and spontaneous transitions directly to cataplexy-like attacks of REM sleep with atonia or more rarely, of non-REM sleep in the pre-REM stage with atonia

• mice also show episodes of gradual cessation of purposeful activity and a transition to non-REM sleep

• abrupt arrests are associated with emotive motor activity such as vigorous grooming, ambulation, and climbing, while gradual arrests are preceded by quiet wakefulness

• gradual arrests are occasionally accompanied by automatic behavior such as stereotypic continued chewing of food after the onset of non-REM sleep

• 38% of gradual arrests initiate with non-REM sleep but progress rapidly to REM sleep

• treatment with the anticataplectic agent clomipramine decreases the frequency of abrupt arrests but does not affect gradual arrests, while treatment with clomipramine and caffeine results in suppression of both abrupt and gradual arrests

muscle

abnormal muscle tone ( J:170824 )

• frequent cataplexy

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
narcolepsy		DOID:8986	OMIM:161400 OMIM:605841 OMIM:609039 OMIM:612417 OMIM:612851 OMIM:614223 OMIM:614250	J:83817