Literature summary for 1.4.3.3 extracted from

Kondori, N.; Paul, P.; Robbins, J.; Liu, K.; Hildyard, J.; Wells, D.; De Belleroche, J.
Characterisation of the pathogenic effects of the in vivo expression of an ALS-linked mutation in D-amino acid oxidase Phenotype and loss of spinal cord motor neurons (2017), PLoS ONE, 12, e0188912 .

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Application

Application	Comment	Organism
medicine	transgenic mice overexpressing mutant R199W show marked abnormal motor features, e.g. kyphosis, associated with a significant loss (19%) of lumbar spinal cord motor neurons, analyzed at 14 months. This effect is greater in females. In transgenic mice expressing mutant R199W and superoxide dismutase SOD1 G93A mutant, overall survival is not affected, but the onset of neurological signs is significantly earlier in female double transgenic animals than their female SOD1 G93A littermates	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
R199W	transgenic mice overexpressing mutant R199W show marked abnormal motor features, e.g. kyphosis, associated with a significant loss (19%) of lumbar spinal cord motor neurons, analyzed at 14 months. This effect is greater in females. In transgenic mice expressing mutant R199W and superoxide dismutase SOD1 G93A mutant, overall survival is not affected, but the onset of neurological signs is significantly earlier in female double transgenic animals than their female SOD1 G93A littermates	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P14920	-	-

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Release 2023.1 (January 2023)