Phenotypes Associated with This Genotype

Genotype
MGI:3758073

• Allelic Composition: Qki^qk-v/Qki^qk-v
• Genetic Background: involves: C3H/Di * DBA/2J

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

nervous system

tonic seizures ( J:13141 )

• following swimming, some mice become motionless and then display a tonic extension of hindlimbs for several minutes

• some mice exhibit adduction of limbs under a flexed trunk and then become stiff and motionless for several seconds

abnormal myelination ( J:13141 )

• region from olfactory bulb to sacral spinal cord is deficient in myelin at all ages studied (12 days to 4 months)

• loss of myelination begins at the junction of peripheral and central nervous systems

• cranial and spinal nerves (except optic nerve) are myelinated

• some fragments of myelin are seen in almost all fiber tracts

• cells in white matter and grey matter tracts appear normal

behavior/neurological

tremors ( J:13141 )

• tremors are most evident in the caudal part of the trunk and proximal portions of hind extremities

• visually, the rate of tremors are 2 to 3 per second

• tremors are first observed at 10-12 days of age and reach full expression by 3 weeks

• in some animals, tremors diminish at 3 months

• physical contact with the mouse reduces or stops tremors

paraparesis ( J:13141 )

• some animals exhibit hindlimb weakness at 3 months of age

tonic seizures ( J:13141 )

• following swimming, some mice become motionless and then display a tonic extension of hindlimbs for several minutes

• some mice exhibit adduction of limbs under a flexed trunk and then become stiff and motionless for several seconds

reproductive system

reduced male fertility ( J:13141 )

♂ • male homozygotes rarely sire offspring