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X-linked Infantile Spinal muscular atrophy
X-linked Infantile Spinal muscular atrophy is caused by mutations in the UBA1 gene. Symptoms appear in infancy and include severe muscle weakness, breathing difficulties, neuronal abnormalities and joint defects (digital contractures). Some severely affected infants are born with broken bones possibly due to poor muscle tine.

General information links for X-linked Infantile Spinal muscular atrophy:
NLM/NIH's Genetic and Rare Disease Information Center
NLM/NIH's GeneReview
Genetics Home Reference
Causative genes for X-linked Infantile Spinal muscular atrophy
Syndrome Human gene Human full name Fly gene
Spinal muscular atrophy, X-linked 2, infantile UBA1 Ubiquitin-like modifier activating enzyme 1 Uba1

Stocks for studying X-linked Infantile Spinal muscular atrophy
Relevant gene in stock Fly disease model or related mutation or transgene Stk # Comments
Uba1 P{lacW}Uba1[s3484] 23945 This P{lacW} is inserted into the 1st intron and has neuronal defects.
Uba1 P{PZ}Uba1[05642] 11413 This P{PZ} is inserted in 5' noncoding sequences. It is uncharacterized but is an unverified lethal suggesting it may disrupt function. lacZ expression patterns are reported.
Uba1 P{TRiP.JF01977}attP2 25957 Expresses dsRNA for RNAi of Uba1 (FBgn0023143) under UAS control.
Uba1 P{TRiP.GL00491}attP2 36307 Expresses dsRNA for RNAi of Uba1 (FBgn0023143) under UAS control.
Uba1 P{EPgy2}Uba1[EY11932] 20829 This P{EPgy2} is inserted 5' of coding sequences. It is uncharacterized but is oriented such that it could express Uba1 in the presence of GAL4. Beware there is a second insertion in CG14464.