Phenotypes Associated with This Genotype

Genotype
MGI:2183678

• Allelic Composition: Tg(NEFH)200Jpj/0
• Genetic Background: Not Specified

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

nervous system

abnormal motor neuron morphology ( J:69180 )

• spinal cord sections revealed many abnormalities in motor neurons of the anterior horn and the dorsal root ganglia, including swelling of perikaraya and proximal axons

• immunofluorescence staining demonstrated that the swelling was the result of heteropolymerization of multiple neurofilament subunits

abnormal axon morphology ( J:69180 )

• distal axons of the sciatic nerve appear shrunken in caliber with thick myelin sheaths

behavior/neurological

limb grasping ( J:69180 )

• when lifted by the tail, mice contract their forelimbs and hindlimbs, compared to control mice that extend their legs

tremors ( J:69180 )

• mice are described as displaying fine tremors by 3-4 months of age

muscle

progressive muscle weakness ( J:69180 )

• severely affected mice are unable to support their weight when grasping a pencil

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
amyotrophic lateral sclerosis type 1		DOID:0060193	OMIM:105400	J:69180