Phenotypes Associated with This Genotype

Genotype
MGI:5515892

• Allelic Composition: Pmp22^Tr-2J/Pmp22⁺
• Genetic Background: C57BL/6J-Pmp22^Tr-2J/GrsrJ

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

behavior/neurological

tremors ( J:201866 )

• rapid tremor with an onset of approximately 3 weeks of age

ataxia ( J:201866 )

• reduced ability to organize the hind limb movements results in a wobbly, unsteady gait

abnormal gait ( J:201866 )

• unsteady, wobbly gait

spasticity ( J:201866 )

• spasticity in the muscles of the lower back and limbs

nervous system

demyelination ( J:201866 )

• assessment at 5 weeks of age shows severe myelin deficiency in the peripheral nerves and at 16 weeks of age peripheral nerves show hypertrophy and very little myelin

reproductive system

reduced male fertility ( J:201866 )

♂ • only two of six heterozygous males reproduced

hearing/vestibular/ear

increased or absent threshold for auditory brainstem response ( J:201866 )

• three of seven heterozgyotes assessed before 45 days of age show elevated auditory brainstem response

impaired hearing ( J:201866 )

• partial hearing impairment found by elevated ABR thresholds in three of seven heterozygotes

deafness ( J:201866 )

• complete deafness in one of seven heterozygotes assessed by ABR

limbs/digits/tail

limbs/digits/tail phenotype ( J:201866 )

N • no indication of pes cavovarus

mortality/aging

mortality/aging ( J:201866 )

N • no premature death noted

vision/eye

vision/eye phenotype ( J:201866 )

N • three heterozygotes displayed no abnormalities by ophthalmoscopy

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Charcot-Marie-Tooth disease type 1A		DOID:0110148	OMIM:118220	J:201866
Charcot-Marie-Tooth disease type 1E		DOID:0110153	OMIM:118300	J:201866
Charcot-Marie-Tooth disease type 3		DOID:0050540	OMIM:145900	J:201866
hereditary neuropathy with liability to pressure palsies		DOID:0060843	OMIM:162500	J:201866