Phenotypes Associated with This Genotype

Genotype
MGI:6191699

• Allelic Composition: Mpz^tm3.1Wra/Mpz⁺
• Genetic Background: FVB.129S2(Cg)-Mpz^tm3.1Wra

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

behavior/neurological

impaired coordination ( J:241742 )

• mice perform worse than wild-type mice on the rotating rod

cellular

increased Schwann cell proliferation ( J:241742 )

• Schwann cell proliferation is increased in sciatic nerves

• however, no differences in Schwann cell apoptosis are seen

nervous system

increased Schwann cell proliferation ( J:241742 )

• Schwann cell proliferation is increased in sciatic nerves

• however, no differences in Schwann cell apoptosis are seen

abnormal Schwann cell morphology ( J:241742 )

• Schwann cell development is delayed

abnormal myelin sheath morphology ( J:241742 )

• about 1% increase in sciatic nerve myelin period

• however, optic nerve myelin period is normal

• sciatic nerve segments have a coherence length of myelin reduced by about 30% and a period distortion that is about 25% greater, indicating more membrane packing irregularity

decreased myelin sheath thickness ( J:241742 )

• sciatic nerves show thinner myelin and an increased average G-ratio of 0.77 compared to 0.67 in wild-type controls at 6 weeks of age

• small diameter axons are less affected than large diameter axons

abnormal sciatic nerve morphology ( J:241742 )

• the number of myelinated axons is reduced in sciatic nerves

abnormal action potential ( J:241742 )

• evoked compound muscle action potential amplitudes are reduced but to a lesser extent than in homozygotes

decreased nerve conduction velocity ( J:241742 )

• mice have slowed nerve conduction velocities at 6-8 weeks of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Charcot-Marie-Tooth disease type 1B		DOID:0110152	OMIM:118200	J:241742