Phenotypes Associated with This Genotype

Genotype
MGI:5574074

• Allelic Composition: Cdkl5^tm1.2Cogr/Y
• Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129S4/SvJaeSor * C57BL/6J

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

behavior/neurological

limb grasping ( J:209635 )

♂

decreased locomotor activity ( J:209635 )

♂ • in the home cage

♂ • however, activity in a novel open arena is normal

seizures ( J:209635 )

♂ • longer mean duration of high-amplitude bursts and lower frequency as detected by electroencephalographic (EEG) recordings

♂ • however, mice exhibit normal spontaneous and induced seizure occurrences

abnormal seizure response to inducing agent ( J:209635 )

♂ • mice treated with kainic acid fail to exhibit an increase in dose-dependent low frequency EEG power unlike wild-type mice

♂ • however, mice exhibit normal spontaneous and induced seizure occurrences

nervous system

seizures ( J:209635 )

♂ • longer mean duration of high-amplitude bursts and lower frequency as detected by electroencephalographic (EEG) recordings

♂ • however, mice exhibit normal spontaneous and induced seizure occurrences

abnormal seizure response to inducing agent ( J:209635 )

♂ • mice treated with kainic acid fail to exhibit an increase in dose-dependent low frequency EEG power unlike wild-type mice

♂ • however, mice exhibit normal spontaneous and induced seizure occurrences

vision/eye

abnormal visual evoked potential ( J:209635 )

♂ • decreased amplitude, but not latency, of the first positive wave

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
developmental and epileptic encephalopathy 2		DOID:0080467	OMIM:300672	J:209635