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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Hcn2ap
apathetic
MGI:3838227
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Hcn2ap/Hcn2ap DW/Pas-Hcn2ap MGI:3838313
hm2
Hcn2ap/Hcn2ap involves: C57BL/6J * DW/Pas MGI:5140001
ht3
Hcn2ap/Hcn2+ DW/Pas-Hcn2ap MGI:3838314


Genotype
MGI:3838313
hm1
Allelic
Composition
Hcn2ap/Hcn2ap
Genetic
Background
DW/Pas-Hcn2ap
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hcn2ap mutation (0 available); any Hcn2 mutation (29 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• some mice die after episodes of rhythmic jumping or tonic-clonic seizure
• 13.5% of mice die between 21 and 28 days after which mortality is about 10% per month until 12 months when all mice are dead

behavior/neurological
• by 6 months of age, mice become less interactive with littermates and their environment compared to wild-type mice
• intention tremors as mice ambulate
• mice fall when standing on hind legs to feed unlike wild-type mice
• all mice fall from a rotarod, but female mice exhibit more time on the rotarod than males
• mice older than 4 months exhibit unusual postures in which they curl up on their side unlike wild-type mice
• mice exhibit impaired motor coordination
• mice exhibit difficulty coordinating the movement needed to swim and will drown if not assisted
• unsteady
• by 6 months of age
• mice exhibit frequent episodes of brief behavioral arrest lasting 2 to 3 seconds and occasional repeated and rhythmic jumping towards the top of the cage on their hind legs followed by a period of quiescence unlike wild-type mice
• however, mice cease their abnormal jumping behavior by 6 weeks of age
• mice exhibit rare frank tonic-clonic convulsions that are followed by a period of quiescence unlike wild-type mice
• mice exhibit frequent, large amplitude runs of spike-wave discharges often associated with a head twitch or behavioral pause unlike wild-type mice
• mice exhibit absence seizures that can be eliminate by treatment with ethosuximide
• mice exhibit frequent, large amplitude runs of spike-wave discharges often associated with a head twitch or behavioral pause unlike wild-type mice

growth/size/body

nervous system
• mice exhibit rare frank tonic-clonic convulsions that are followed by a period of quiescence unlike wild-type mice
• mice exhibit frequent, large amplitude runs of spike-wave discharges often associated with a head twitch or behavioral pause unlike wild-type mice
• mice exhibit absence seizures that can be eliminate by treatment with ethosuximide
• mice exhibit frequent, large amplitude runs of spike-wave discharges often associated with a head twitch or behavioral pause unlike wild-type mice




Genotype
MGI:5140001
hm2
Allelic
Composition
Hcn2ap/Hcn2ap
Genetic
Background
involves: C57BL/6J * DW/Pas
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hcn2ap mutation (0 available); any Hcn2 mutation (29 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice exhibit reduced viability compared with wild-type mice

reproductive system

behavior/neurological
• mice exhibit less time immobile in a tail suspension test compared with wild-type mice
• mice cannot swim unlike wild-type mice
• mice exhibit reduced spontaneous movement compared with wild-type mice

growth/size/body




Genotype
MGI:3838314
ht3
Allelic
Composition
Hcn2ap/Hcn2+
Genetic
Background
DW/Pas-Hcn2ap
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hcn2ap mutation (0 available); any Hcn2 mutation (29 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• all mice treated with 4-aminopyridine develop seizures with shortened latency to initiation of limb clonus and generalized myoclonus and decreased duration of generalized myoclonus and tonic-clonic phases compared to similarly treated wild-type mice
• 2 of 10 mice exhibit spontaneous, paroxysmal 1 to 3 second runs of spike-wave discharges associated with behavioral arrest unlike in wild-type mice
• 2 of 10 mice exhibit spontaneous, paroxysmal 1 to 3 second runs of spike-wave discharges associated with behavioral arrest unlike in wild-type mice

nervous system
• all mice treated with 4-aminopyridine develop seizures with shortened latency to initiation of limb clonus and generalized myoclonus and decreased duration of generalized myoclonus and tonic-clonic phases compared to similarly treated wild-type mice
• 2 of 10 mice exhibit spontaneous, paroxysmal 1 to 3 second runs of spike-wave discharges associated with behavioral arrest unlike in wild-type mice
• 2 of 10 mice exhibit spontaneous, paroxysmal 1 to 3 second runs of spike-wave discharges associated with behavioral arrest unlike in wild-type mice





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last database update
05/14/2024
MGI 6.23
The Jackson Laboratory