Phenotypes Associated with This Genotype

Genotype
MGI:3717180

• Allelic Composition: Fig4^plt1/Fig4^plt1
• Genetic Background: involves: 129P2/OlaHsd * C3H * C57BL/6 * CAST/Ei * SJL

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

mortality/aging

premature death ( J:122737 , J:185989 )

• all mice die by 6 weeks (J:122737)

• juvenile lethality at 6-8 weeks of age (J:185989)

behavior/neurological

abnormal motor capabilities/coordination/movement ( J:185989 )

• severe movement disorder by 30 days of age

tremors ( J:122737 , J:185989 )

• by 30 days of age (J:185989)

impaired coordination ( J:122737 )

• progressive loss of mobility

abnormal limb posture ( J:122737 )

• at week 3

abnormal gait ( J:122737 )

• mice have a 'swimming' gait

nervous system

abnormal nervous system morphology ( J:185989 )

astrocytosis ( J:185989 )

abnormal motor neuron morphology ( J:122737 )

• at 6 weeks, spinal motor neurons accumulates vacuoles prior to cell loss

neuron degeneration ( J:122737 )

• visible at week 1, mice exhibit neonatal degeneration in sensory and autonomic ganglia with loss of neurons in from layers 4 and 5 of the cortex, deep cerebellar nuclei, thalamus, pons and medulla

abnormal sciatic nerve morphology ( J:122737 )

• mice exhibit fewer large-diameter myelinated axons

• sciatic nerve conduction velocity is slowed

• sciatic nerves have reduced amplitude of compound muscle action potential

spongiform encephalopathy ( J:185989 )

• in deep layers of cortex, cerebellar nuclei, hippocampus, brainstem, and dorsal root ganglia

demyelination ( J:185989 )

• reduced sciatic nerve myelination

• low abundance of myelin basic protein

abnormal action potential ( J:122737 )

• sciatic nerves have reduced amplitude of compound muscle action potential

abnormal nerve conduction ( J:122737 , J:185989 )

• sciatic nerve conduction velocity is slowed (J:122737)

• sciatic nerve conduction velocity reduced to 50% of velocity in control mice (J:185989)

muscle

muscle weakness ( J:122737 )

growth/size/body

decreased body size ( J:122737 )

• at P3

decreased body weight ( J:122737 )

hematopoietic system

spleen hypoplasia ( J:122737 )

• severe tremors develop 2 weeks after birth

immune system

spleen hypoplasia ( J:122737 )

• severe tremors develop 2 weeks after birth

pigmentation

diluted coat color ( J:122737 , J:185989 )

• at P3 (J:122737)

abnormal melanosome morphology ( J:122737 )

• clumps of melanosomes are visible in the few remaining pigmented hair follicles

integument

diluted coat color ( J:122737 , J:185989 )

• at P3 (J:122737)

abnormal hair follicle morphology ( J:122737 )

• clumps of melanosomes are visible in the few remaining pigmented hair follicles

decreased hair follicle number ( J:122737 )

• pigment containing hair follicles are decreased in number

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Charcot-Marie-Tooth disease type 4J		DOID:0110184	OMIM:611228	J:122737