Phenotypes Associated with This Genotype

Genotype
MGI:6276576

• Allelic Composition: Tg(Mpz*S63X)31Mes/0
• Genetic Background: involves: FVB/N

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

behavior/neurological

tremors ( J:105751 )

ataxia ( J:105751 )

weakness ( J:105751 )

muscle

muscular atrophy ( J:105751 )

• muscle atrophy in the hindlimbs

nervous system

abnormal nervous system physiology ( J:105751 )

• mice develop a neuromuscular disorder between 4-8 weeks of age

demyelination ( J:105751 )

• sciatic nerve shows demyelinating neuropathy

• onion bulbs, signifying myelin destruction followed by attempts to remyelinate, are present at 6 months of age and increase in number with age

• 6 month old mice show demyelination and occasional onion bulbs in both ventral (motor) and dorsal (sensory) roots as well as in sciatic nerve

dysmyelination ( J:105751 )

• hypomyelination with occasional nude axons

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Charcot-Marie-Tooth disease type 1B		DOID:0110152	OMIM:118200	J:105751