Phenotypes Associated with This Genotype

Genotype
MGI:5014490

• Allelic Composition: Fig4^plt1/Fig4^plt1
• Genetic Background: involves: 129 * C3H * C57BL/6J * CAST/Ei * SJL

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

mortality/aging

premature death ( J:173446 )

• survive to 1 -2 months of age

nervous system

abnormal brain morphology ( J:173446 )

• extensive autophagic inclusion bodies

astrocytosis ( J:173446 )

abnormal myelin sheath morphology ( J:173446 )

• thinning of the myelin sheath of the sciatic nerve

abnormal sciatic nerve morphology ( J:173446 )

• thinning of the myelin sheath of the sciatic nerve

neurodegeneration ( J:173446 )

• severe spongiform degeneration in the brain and extensive loss of neurons from the peripheral ganglia

neuron degeneration ( J:173446 )

• extensive loss of neurons from peripheral ganglia

• neurons in layers 4 and 5 of the cortex, the deep cerebellar nuclei, and the dorsal root ganglia are severely affected with accumulation of vacuoles that fill the cytoplasm

spongiform encephalopathy ( J:173446 )

decreased nerve conduction velocity ( J:173446 )

• in the sciatic nerve

pigmentation

diluted coat color ( J:173446 )

hypopigmentation ( J:173446 )

integument

diluted coat color ( J:173446 )