Phenotypes Associated with This Genotype

Genotype
MGI:3576605

• Allelic Composition: Mpz^tm1Msch/Mpz⁺
• Genetic Background: involves: 129S7/SvEvBrd

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

nervous system

neuron degeneration ( J:133028 )

• at 12 months, mice exhibit severe demyelinating neuropathy unlike wild-type mice

abnormal myelination ( J:42838 )

• myelin sheaths normal until around 4 weeks of age

• by 4 months of age, myelin sheaths are abnormally thin

demyelination ( J:133028 )

• at 12 months

dysmyelination ( J:267903 )

• mice exhibit hypomyelination

abnormal nerve conduction ( J:42838 )

• 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

increased macrophage cell number ( J:133028 )

• 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

increased macrophage cell number ( J:133028 )

• 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		DO ID	OMIM ID(s)	Ref(s)
Charcot-Marie-Tooth disease type 1B		DOID:0110152	OMIM:118200	J:42838