Phenotypes Associated with This Genotype

Genotype
MGI:3844352

• Allelic Composition: Arx^tm1Gldn/Y; Tg(mI56i-cre,EGFP)1Kc/0
• Genetic Background: involves: 129/Sv * C57BL/6 * CD-1 * FVB/N

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

mortality/aging

decreased survivor rate ( J:148311 )

♂ • fewer than the expected number of male offspring are recovered from litters from crosses between cre-expressing males and Arx^tm1Gldn females

postnatal lethality, incomplete penetrance ( J:148311 )

♂ • a siginificant number of mutant males die early in the postnatal period

behavior/neurological

clonic seizures ( J:148311 )

♂ • some mice display seizures characterized by whole body flexion or extension movements resembling epileptic spasms

tonic-clonic seizures ( J:148311 )

♂ • some mice display arrest of acitivity/freezing seizures

sporadic seizures ( J:148311 )

♂ • all adult mice develop spontaneous brief seizures

♂ • all P14-17 mice demonstrate spontaneous seizures consisting of body arching with forelimb clonus and rearing

nervous system

nervous system phenotype ( J:148311 )

♂N • no brain weight or gross morphological differences are detected in adult or P14-17 animals compared to controls

clonic seizures ( J:148311 )

♂ • some mice display seizures characterized by whole body flexion or extension movements resembling epileptic spasms

tonic-clonic seizures ( J:148311 )

♂ • some mice display arrest of acitivity/freezing seizures

sporadic seizures ( J:148311 )

♂ • all P14-17 mice demonstrate spontaneous seizures consisting of body arching with forelimb clonus and rearing

♂ • all adult mice develop spontaneous brief seizures

abnormal brain interneuron morphology ( J:148311 )

♂ • a prominent reduction in calbindin-labeled neurons in the neocortex compared to controls in the hippocampus, pattern of staining of interneurons is altered from cell body staining to mainly staining interneuron processes

♂ • smaller reductions are observed in numbers and distribution of calretinin-labeled neurons compared to controls

abnormal brain wave pattern ( J:148311 )

♂ • in P90-120 day-old mice, EEG is disrupted compared to controls; mice display pattern of moderate to higher amplitude and faster frequency activity

♂ • abnormal activity is more apparent in the hippocampal rather than cortical electrodes

♂ • adult animals show a lack of normal 4-7 Hz rhythmic theta activity while awake; hippocampal theta activity is rarely recorded, but when present has faster activity superimposed on the normal theta

♂ • while sleeping, a lack of normal delta power and rhythmic delta activity seen in controls

♂ • mice have a decrease in delta activity and an increase in faster frequency activity

♂ • P14-17 animals display EEGs with slower background with lower voltage than mature controls; one animal showed infrequent large amplitude spikes

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
early infantile epileptic encephalopathy		DOID:0050709		J:148311