Phenotypes Associated with This Genotype

Genotype
MGI:3805898

• Allelic Composition: Chl1^tm1Mtg/Chl1^tm1Mtg; Tg(Pvalb-EGFP)B20Zjh/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

nervous system

abnormal brain interneuron morphology ( J:136656 )

• stellate axons appear thinner, more wavy, with significantly altered orientation and trajectories compared to controls at P40

• stellate axons display reduced association with Bergmann glial fibers and a reduction of vertically oriented branches

abnormal Purkinje cell innervation ( J:136656 )

• at P44, density of symmetric synapses at Purkinje dendrites is reduced by 60%; density of symmetric synapses at Purkinje dendrites is reduced by 40% at P30

abnormal axon morphology ( J:136656 )

• stellate axons appear thinner, more wavy, with significantly altered orientation and trajectories compared to controls at P40

• stellate axons display reduced association with Bergmann glial (BG) fibers and a reduction of vertically oriented branches, with >30% of stellate axon branches associated with BG fibers; this is apparent at P16 and P20

• basket axons and their innervation of Purkinje cells appears normal

abnormal synaptic bouton morphology ( J:136656 )

• abnormal stellate axons have smaller boutons than wild-type

axon degeneration ( J:136656 )

• in upper molecular layer of the cerebellum in 3 month-old mice, degenerating axon profiles are often observed