Phenotypes Associated with This Genotype

Genotype
MGI:6865686

• Allelic Composition: Prkcg^em1Jpka/Prkcg^em1Jpka
• Genetic Background: FVB/N-Prkcg^em1Jpka

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

behavior/neurological

ataxia ( J:305637 )

• mice show marked ataxia at 3 and 6 months of age

• some mice show poor performance on the balance beam test and cannot cross the beam because they fall down or are unable to perform the task

impaired coordination ( J:305637 )

• 3- and 6-month old mice show decreased latency to fall off the accelerating rotarod

abnormal gait ( J:305637 )

• footprint gait analysis of 9-month-old mice shows an ataxic gait with increased step width

nervous system

abnormal Purkinje cell dendrite morphology ( J:305637 )

• dendritic expansion of Purkinje cells in organotypic slice culture is severely impaired and cells develop only short thickened dendrites

• cerebellar slice cultures treated with PKC inhibitor Go6983 have longer dendrites with more branches than untreated, showing a significant rescue

• Purkinje cells show less extended, condensed dendritic trees covering a reduced area in 4-week-old and 1-year-old mice

• however, no obvious Purkinje cell loss is seen from 4 to 40 weeks of age

abnormal cerebellar molecular layer ( J:305637 )

• the thickness of the molecular layer in lobule VII is slightly reduced in 40-week-old mice

abnormal innervation ( J:305637 )

• climbing fiber terminals have reduced density, in particular, on the distal part of the dendrites

• 40-week-old mice show significantly less climbing fiber terminals in the molecular layer on the distal part of the dendrites, indicating disturbed climbing fiber innervation

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
spinocerebellar ataxia type 14		DOID:0050964	OMIM:605361	J:305637