Phenotypes Associated with This Genotype

Genotype
MGI:3043397

• Allelic Composition: Ndrg1^tm1Myta/Ndrg1^tm1Myta
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

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

mortality/aging

premature death ( J:172770 )

• some mice die between 1 to 10 months

behavior/neurological

limb grasping ( J:89888 )

• observed upon tail suspension

weakness ( J:172770 )

• in the hindlimb at 12 weeks of age

hindlimb paralysis ( J:172770 )

• hindlimb dragging at 1 year of age

paraparesis ( J:89888 )

• hindlimb weakness first exhibited at 3 months of age and increasing with time

• mice were dragging their hindlimbs by 1 year of age and exhibited hindlimb muscle atrophy

nervous system

peripheral nervous system degeneration ( J:89888 )

• severe degeneration of the sciatic nerve observed at 3 months and progressing with age

• electron microscopy revealed onion bulb pathology with Schwann cell processes, thin myelin sheaths, endoneurial collagenization, and infiltration of macrophages

demyelination ( J:89888 , J:172770 )

• first observed at 5 weeks and progressing with age (J:89888)

• due to defects in the maintenance of myelin structure rather than impaired Schwann cell proliferation or initial myelination (J:89888)

• less severe than in Ndrg1^str homozygotes (J:172770)

decreased nerve conduction velocity ( J:172770 )

• at 30 weeks of age in motor and sensory nerves

muscle

skeletal muscle atrophy ( J:172770 )

• in the hind leg at 1 year of age

growth/size/body

decreased body size ( J:172770 )

vision/eye

cataract ( J:172770 )

• as young as 3 weeks of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Charcot-Marie-Tooth disease type 4D		DOID:0110186	OMIM:601455	J:89888