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Phenotypes Associated with This Genotype
Genotype
MGI:3576605
Allelic
Composition
Mpztm1Msch/Mpz+
Genetic
Background
involves: 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mpztm1Msch mutation (0 available); any Mpz mutation (16 available)
phenotype observed in females
phenotype observed in males
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 ID Ref(s)
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B; CMT1B 118200 J:42838


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/15/2016
MGI 6.04
The Jackson Laboratory