Phenotypes associated with this allele

• Allele Symbol: Kcna1^mceph
• Allele Name: megencephaly
• Allele ID: MGI:1856949
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Kcna1^mceph/Kcna1^mceph	BALB/cByJ-Kcna1^mceph/J	MGI:3043348

Genotype
MGI:3043348

hm1

• Allelic Composition: Kcna1^mceph/Kcna1^mceph
• Genetic Background: BALB/cByJ-Kcna1^mceph/J

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

Abnormal posture of the Kcna1^mceph/Kcna1^mceph mouse

behavior/neurological

abnormal reflex ( J:38104 )

• increased sensitivity to intentional sound stimuli not related to hearing

increased startle reflex ( J:119491 )

• hyperstartle response

tremors ( J:119491 )

• body tremors

• jittering

abnormal posture ( J:38104 , J:119491 )

• by 4-6 weeks of age homozygotes often sit on their haunches for 30 seconds to several minutes at a time (J:38104)

• tail is used for support (J:38104)

• forelimbs held loosely (J:38104)

abnormal locomotor behavior ( J:119491 )

• abnormal limb paddling

abnormal gait ( J:38104 )

• subtle shakiness of gait

abnormal sexual interaction ( J:38104 )

• do not breed although health is good and ovaries are reported to be functional

seizures ( J:89910 )

• by 3 weeks of age, motor disturbances such as partial seizures, jittering, fluctuating hemiplegia were seen

• overall symptoms suggestive of epilepsy

convulsive seizures ( J:89910 , J:119491 )

• all show class IV seizures and 7/9 show class V seizures (J:119491)

tonic-clonic seizures ( J:89910 )

• running seizures, rearing and falling, postanaesthetic tonic-clonic seizures were reported

growth/size/body

decreased body size ( J:38104 )

• smaller in size than controls

vision/eye

eye inflammation ( J:119491 )

• crusting of the eyelid

chromodacryorrhea ( J:38104 )

• eye discharge creates a channel of red discoloration due to the red-staining porphyrin contained in mouse tears

excessive tearing ( J:38104 )

• tearing from medial canthus of eyes which becomes continuous and is often associated with inflammation and crusting

nervous system

seizures ( J:89910 )

• by 3 weeks of age, motor disturbances such as partial seizures, jittering, fluctuating hemiplegia were seen

• overall symptoms suggestive of epilepsy

convulsive seizures ( J:89910 , J:119491 )

• all show class IV seizures and 7/9 show class V seizures (J:119491)

tonic-clonic seizures ( J:89910 )

• running seizures, rearing and falling, postanaesthetic tonic-clonic seizures were reported

abnormal brain morphology ( J:38104 , J:119491 )

abnormal brain development ( J:38104 )

• growth continued well past 2 weeks when it normally stops

• growth involved cell hypertrophy rather than hyperplasia

• lipid as a percentage of the brain composition was decreased

abnormal brain size ( J:38104 )

increased brain size ( J:38104 , J:89909 )

• brains were grossly larger than littermates (J:38104)

• by 4-6 months of age there was some protrusion of the cerebellar vermis through the foramen magnum (J:38104)

• greatest increase in size was in the ventral cortex (J:89909)

• coronal area of the brain, total volume, hippocampal formation, and cerebral cortex were also enlarged at 8 weeks of age and later (J:89909)

• thalamus, cerebellum, spinal cord were all relatively normal in size (J:89909)

increased brain weight ( J:38104 )

• brains were significantly heavier than normal from 2 months on

enlarged hippocampus ( J:119491 )

• by 66%

abnormal astrocyte morphology ( J:38104 )

• brains at 4 months of age show a slight increase in the number of astrocytes in the hippocampus

hearing/vestibular/ear

abnormal hearing physiology ( J:119491 )

• abnormal audiosensitivity

ear inflammation ( J:119491 )

• crusting in the outer ear

immune system

ear inflammation ( J:119491 )

• crusting in the outer ear

eye inflammation ( J:119491 )

• crusting of the eyelid