Phenotypes Associated with This Genotype

Genotype
MGI:3576603

• Allelic Composition: Mpz^tm1Msch/Mpz⁺
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

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

immune system

abnormal macrophage chemotaxis ( J:67581 )

• increased infiltration of macrophages into motor nerves

• often found in the endoneurium

increased monocyte cell number ( J:82432 )

• increased numbers of mononuclear cells found in the sciatic nerve

abnormal T-helper 1 physiology ( J:82432 )

• elevated Th1 autoimmune response to Mpz

abnormal cytokine secretion ( J:82432 )

• marginally increased production of interferon gamma

behavior/neurological

abnormal gait ( J:82432 )

• waddling gait develops by about 5 months of age

paralysis ( J:82432 )

• more prone to experimentally induced paralysis

hematopoietic system

abnormal macrophage chemotaxis ( J:67581 )

• increased infiltration of macrophages into motor nerves

• often found in the endoneurium

increased monocyte cell number ( J:82432 )

• increased numbers of mononuclear cells found in the sciatic nerve

abnormal T-helper 1 physiology ( J:82432 )

• elevated Th1 autoimmune response to Mpz

cellular

abnormal macrophage chemotaxis ( J:67581 )

• increased infiltration of macrophages into motor nerves

• often found in the endoneurium

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
PCWH syndrome		DOID:0090111	OMIM:609136	J:82432