Phenotypes Associated with This Genotype

Genotype
MGI:3587441

• Allelic Composition: Chrna4^tm1Dra/Chrna4^tm1Dra
• Genetic Background: involves: 129S4/SvJae * C57BL/6

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

behavior/neurological

behavior/neurological phenotype ( J:125305 )

N • mutant mice do not display DAC (which consists of three distinct stereotypic behaviors - saccadic behavior, forelimb dystonia, Straub tail) after injection with 2, 6, or 8 mg/kg nicotine

abnormal behavioral response to addictive substance ( J:64208 )

• under an unhabituated or habituated condition, nicotine administration produced a smaller and delayed decline in sniffing, locomotion, total rearing, and sifting than in wild-type

increased susceptibility to pharmacologically induced seizures ( J:97020 )

• under normal conditions, homozygous null mice do not develop spontaneous seizures, however following administration of the GABA antagonist, pentylenetetrazole (PTZ), homozygous null mice show increased mortality, greater number of generalized clonic seizures, and EEGs with increased spikes, multi-spike complexes and continuous fast activity

abnormal emotion/affect behavior ( J:97020 )

abnormal response to new environment ( J:64208 )

• over an initial 1 hour phase of exploratory behavior in a novel environment, exhibit increased sniffing and decreased grooming

• over a subsequent phase of habituation, mice also exhibit increased sniffing, increased locomotion, and a reduced rate of habituation

increased anxiety-related response ( J:64208 )

• spend less time in open arms and make fewer open-arm entries in an elevated plus-maze, indicating increased anxiety

decreased grooming behavior ( J:64208 )

• exhibit decreased grooming over an initial 1 hour phase of exploratory behavior in a novel environment

abnormal locomotor activation ( J:64208 )

• over a subsequent phase of habituation in a new environment, exhibit increased locomotion

increased vertical activity ( J:64208 )

• over a subsequent phase of habituation, exhibit an increase in total rearing, rearing seated, rearing to wall, and rearing free

nervous system

increased susceptibility to pharmacologically induced seizures ( J:97020 )

• under normal conditions, homozygous null mice do not develop spontaneous seizures, however following administration of the GABA antagonist, pentylenetetrazole (PTZ), homozygous null mice show increased mortality, greater number of generalized clonic seizures, and EEGs with increased spikes, multi-spike complexes and continuous fast activity

abnormal brain wave pattern ( J:97020 )

• EEGs with increased spikes, multi-spike complexes and continuous fast activity are observed when mice receive a GABA antagonist

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	autosomal dominant nocturnal frontal lobe epilepsy 1	DOID:0060682	OMIM:600513	J:64208 , J:97020