Phenotypes Associated with This Genotype

Genotype
MGI:3845794

• Allelic Composition: Tg(PMP22)C22Clh/0
• Genetic Background: involves: C57BL/6J * CBA/Ca

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

mortality/aging

premature death ( J:78221 )

• 6 male mice die suddenly between 2 and 5 months of age

nervous system

abnormal submucous nerve plexus morphology ( J:76795 )

• Ramak fibers (bundles of unmyelinated axons surrounded by a single Schwann cell) show an excess of Schwann cell membrane formation

increased Schwann cell number ( J:76795 )

decreased myelin sheath thickness ( J:76795 )

• Schwann cell g ratio is increased, indicating thin myelin sheaths

abnormal myelination ( J:76795 )

• decrease in the proportion of large myelinated fibers and an increase in the proportion of smaller ones

• increase in myelin periodicity of nerves

• uncompacted myelin is seen

dysmyelination ( J:76795 )

• 42.4% of fibers are dysmyelinated

reproductive system

reduced male fertility ( J:78221 )

♂ • male mice rarely mate

behavior/neurological

tremors ( J:78221 )

• at 3 weeks of age, mice shake when held in the air unlike wild-type mice

abnormal gait ( J:78221 )

• at 3 weeks of age, mice are unsteady when walking unlike wild-type mice

nervous ( J:78221 )

• at 3 weeks of age, mice react more than normal mice to sudden noises and other disturbances

hindlimb paralysis ( J:78221 )

• mice progressively lose control of their hind legs

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Charcot-Marie-Tooth disease type 1A		DOID:0110148	OMIM:118220	J:76795 , J:78221