The invention belongs to the technical field of
medical biology, and particularly relates to an ALS mouse model constructed based on Sptlc-E260K
point mutation and a construction method and application of the ALS mouse model. According to the Sptlc2-E260K
point mutation mouse, key
enzyme SPTLC2 is synthesized through targeted
sphingolipid, functional
mutation E260K is directly introduced, a
sphingolipid metabolism pathway is abnormal, and the core
pathology of
sphingolipid metabolism imbalance in children type ALS is accurately simulated. Compared with SOD1 and TDP43 models, the invention fills up the blank of the existing model in the study of ALS related to
sphingolipid metabolism, and provides a specific tool for exploring a neurodegenerative mechanism driven by abnormal
metabolism. The method has the advantages that efficient identification is realized through selection of SPTLC2
gene targets and introduction of codon replacement and
restriction enzyme cutting sites, so that the problem of incomplete
pathological coverage caused by limitation of
gene functions in the prior art is solved.