Phenotypes Associated with This Genotype

Genotype
MGI:5630057

• Allelic Composition: Tg(SOD1*G85R/EYFP)737Alho/Tg(SOD1*G85R/EYFP)737Alho
• Genetic Background: involves: C57BL/6J * SJL/J

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

nervous system

abnormal motor neuron morphology ( J:212250 )

• most ventral horn motor neurons lack autofluorescent lipofuscin in cell bodies at 3 or 5 months of age

• however, lipofuscin is detected in the neuron cell bodies of the dorsal regions of the spinal cord gray matter

• marker analysis indicates that presymptomatic mice exhibit fewer autophagosomes in motor neurons

abnormal spinal cord ventral horn morphology ( J:212250 )

• most ventral horn motor neurons lack autofluorescent lipofuscin in cell bodies at 3 or 5 months of age

abnormal nervous system physiology ( J:144475 )

• mice develop motor neuron disease, with onset from 4 to 12 months of age

behavior/neurological

paralysis ( J:212250 )

• mice develop a 5- to 6-month course to paralysis

cellular

abnormal autophagy ( J:212250 )

• marker analysis indicates that presymptomatic mice exhibit fewer autophagosomes in motor neurons and further analysis indicates that the autophagy/lysosome pathway is hyperactive

homeostasis/metabolism

abnormal autophagy ( J:212250 )

• marker analysis indicates that presymptomatic mice exhibit fewer autophagosomes in motor neurons and further analysis indicates that the autophagy/lysosome pathway is hyperactive

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
amyotrophic lateral sclerosis type 1		DOID:0060193	OMIM:105400	J:212250