Phenotypes Associated with This Genotype

Genotype
MGI:5560741

• Allelic Composition: Eml1^heco/Eml1^heco
• Genetic Background: involves: NOR

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

behavior/neurological

impaired spatial learning ( J:208031 )

• mice exhibit lower performance during task acquisition in the automated radial maze and increased errors in reaching the platform in a Morris water maze test at 7 months compared with wild-type mice

abnormal righting response ( J:208031 )

• one-day delay in development

abnormal locomotor behavior ( J:208031 )

• slower development of locomotion

abnormal locomotor activation ( J:208031 )

• delayed geotaxis reflexes

decreased locomotor activity ( J:208031 )

• decreased activity in a Y-maze only at 2 months

bradykinesia ( J:208031 )

• brady- and hypokinesia in severely affected mice

seizures ( J:208031 )

• 3 of 23 mice exhibit spontaneous seizures similar to pilocarpine-induced seizures

increased susceptibility to pharmacologically induced seizures ( J:208031 )

• pilocarpine-induced

myoclonus ( J:208031 )

• spontaneous myoclonic jerks associated with interrupted exploratory behavior at 4 to 5 weeks

• however, no epileptic seizures are observed at 8 to 12 weeks

nervous system

nervous system phenotype ( J:208031 )

N • mice exhibit normal afferent connections

seizures ( J:208031 )

• 3 of 23 mice exhibit spontaneous seizures similar to pilocarpine-induced seizures

increased susceptibility to pharmacologically induced seizures ( J:208031 )

• pilocarpine-induced

myoclonus ( J:208031 )

• spontaneous myoclonic jerks associated with interrupted exploratory behavior at 4 to 5 weeks

• however, no epileptic seizures are observed at 8 to 12 weeks

abnormal cortical intermediate zone morphology ( J:208031 )

• increased thickness at E17

enlarged brain ventricles ( J:208031 )

• discrete ventricular enlargement

• huge ventricular enlargement in severely affected mice

thickened cerebral cortex ( J:208031 )

• in heterotropia cortex layer II/III compared with homotopic areas

brain atrophy ( J:208031 )

• lateral cortical atrophy in severely affected mice

ectopic cortical neuron ( J:208031 )

• cortical heterotopia

• bilateral subcortical band heterotropia beneath the medial neocortex and extending from the frontal lobe to the occipital lobe

• variable severity

growth/size/body

decreased body size ( J:208031 )

• in severely affected mice

decreased body weight ( J:208031 )

• in severely affected mice

craniofacial

abnormal cranium morphology ( J:208031 )

• in severely affected mice

integument

delayed hair appearance ( J:208031 )

muscle

myoclonus ( J:208031 )

• spontaneous myoclonic jerks associated with interrupted exploratory behavior at 4 to 5 weeks

• however, no epileptic seizures are observed at 8 to 12 weeks

skeleton

abnormal cranium morphology ( J:208031 )

• in severely affected mice

vision/eye

delayed eyelid opening ( J:208031 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
congenital nervous system abnormality		DOID:2490		J:208031