Phenotypes Associated with This Genotype

Genotype
MGI:3576602

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

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

nervous system

abnormal Schwann cell morphology ( J:3234 )

• make fewer turns around axons and otherwise showing varying degrees of abnormal development and degeneration

abnormal myelination ( J:42838 )

• schwann cells formed little compacted myelin and that was abnormal

abnormal nerve conduction ( J:42838 )

• at 1 year of age, conduction velocities in the sciatic nerve were reduced, temporal dispersion slowed, polyphasia, increased latencies

behavior/neurological

limb grasping ( J:3234 )

• after 2 weeks of age, body showed weak vibrations when lifted by the tail

• by 4 weeks of age clasping of the hindlimbs when lifted by the tail

tremors ( J:3234 )

• becoming more pronounced with age, sometimes leading to convulsions

weakness ( J:3234 )

• weak forelimbs and hindlimbs in adults

abnormal locomotor coordination ( J:3234 )

• becoming more pronounced with age

impaired swimming ( J:3234 )

• uncoordinated

abnormal gait ( J:3234 )

• dragging or jerky movements of hindlimbs

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Charcot-Marie-Tooth disease type 1B		DOID:0110152	OMIM:118200	J:42838
Charcot-Marie-Tooth disease type 3		DOID:0050540	OMIM:145900	J:42838