Article
An improved Sms p.Gly56Ser model of Snyder-Robinson syndrome reveals phenotypic parallels with clinical features.
Disease models & mechanisms - 1 Sept 2026
Murray Stewart Tracy, Tata Saurabh, Piec Pierre-Alexandre, Foley Jackson R, Koerner Teri, Kutler Mary Jo, Pegg Anthony E, Schwartz Charles E, Casero Robert A, Zuberi Aamir, Lutz Cathleen, Presa Maximiliano
Abstract excerpt
Snyder-Robinson syndrome (SRS) is a rare X-linked disorder, caused by pathogenic variants in spermine synthase (SMS), associated with spermine deficiency and excessive spermidine accumulation. Previously reported mouse models exhibited reduced birthrate and survival of affected males, greatly limiting their experimental utility. Here, we describe a new mouse model, carrying the clinically relevant Sms p.Gly56Ser...
Read the complete abstract on PubMedTopics
- Animals
- Spermine Synthase
- Male
- Phenotype
- Disease Models, Animal
- X-Linked Intellectual Disability