Mouse Genome Informatics
ht
    Mpztm1Msch/Mpz+
involves: 129S7/SvEvBrd
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
nervous system
• at 12 months, mice exhibit severe demyelinating neuropathy unlike wild-type mice
• myelin sheaths normal until around 4 weeks of age
• by 4 months of age, myelin sheaths are abnormally thin
• at 12 months
• divergence from controls does not begin until around 5-7 months of age
• conduction velocities in the sciatic nerve were reduced, temporal dispersion slowed, polyphasia, increased latencies

immune system
• at 6 months, the number of macrophages in the quadriceps nerve is doubled compared to in wild-type mice
• at 12 months, the number of macrophages in the quadriceps nerve is increased 3- to 4-fold compared to in wild-type mice
• however, the number of macrophages in the saphenous nerve is normal

hematopoietic system
• at 6 months, the number of macrophages in the quadriceps nerve is doubled compared to in wild-type mice
• at 12 months, the number of macrophages in the quadriceps nerve is increased 3- to 4-fold compared to in wild-type mice
• however, the number of macrophages in the saphenous nerve is normal

Mouse Models of Human Disease
OMIM IDRef(s)
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B; CMT1B 118200 J:42838