Phenotypes associated with this allele

• Allele Symbol: Hcrtr2^tm1Tesc
• Allele Name: targeted mutation 1, Thomas E Scammell
• Allele ID: MGI:4949132
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Hcrtr2^tm1Tesc/Hcrtr2^tm1Tesc	B6.Cg-Hcrtr2^tm1Tesc	MGI:4949134
cn2	Hcrtr2^tm1Tesc/Hcrtr2^tm1Tesc	B6.129-Hcrtr2^tm1Tesc	MGI:4949135

Genotype
MGI:4949134

hm1

• Allelic Composition: Hcrtr2^tm1Tesc/Hcrtr2^tm1Tesc
• Genetic Background: B6.Cg-Hcrtr2^tm1Tesc

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

behavior/neurological

behavior/neurological phenotype ( J:170824 , J:171751 )

N • no reduction in activity level is detected (J:170824)

N • no significant differences in anxiety related behavior or activity in a novel environment are detected (J:171751)

abnormal depression-related behavior ( J:171751 )

• significant increase in total time spent immobile in the forced swim and tail suspension tests suggesting an increase in depression like behavior

fragmentation of sleep/wake states ( J:170824 )

• wake and non-REM sleep bouts are shorter and more frequent, especially during the dark period

• however, hourly amounts of wake, non-REM and REM sleep are normal

narcolepsy ( J:170824 )

nervous system

abnormal neuron physiology ( J:170824 )

• tuberomammillary nucleus neurons fail to respond to orexin-A unlike wild-type mice which respond with an increase in their firing rate associated with membrane depolarization

muscle

abnormal muscle tone ( J:170824 )

• cataplexy is very rare

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:170824

Genotype
MGI:4949135

cn2

• Allelic Composition: Hcrtr2^tm1Tesc/Hcrtr2^tm1Tesc
• Genetic Background: B6.129-Hcrtr2^tm1Tesc

behavior/neurological

behavior/neurological phenotype ( J:170824 )

N • following bilateral microinjection of AAV-Cre into the tuberomammillary nucleus region maintenance of wakefulness is markedly improved compared to non-Cre treated

fragmentation of sleep/wake states ( J:170824 )

• bilateral microinjection of AAV-Cre dorsal into the posterior thalamus region fails to improve wakefulness

• mice with bilateral microinjection of AAV-Cre into the tuberomammillary nucleus region still have fragmented sleep with shorter non-REM bouts