L1 syndrome, also known as spastic paraplegia type 1, is an X-linked disorder characterized by hydrocephalus of varying degrees of severity, Intellectual disability, spasticity of the legs, adducted thumbs, difficulties speaking and seizures. The symptoms can be quite variable but all are caused by mutations in the L1CAM gene.
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Stocks for studying L1 syndrome |
|---|
| Relevant gene in stock | Fly disease model or related mutation or transgene | Stk # | Comments |
|---|---|---|---|
| L1CAM (human) | P{UAS-Hsap\L1CAM.G}9 | 24171 | Expresses human L1CAM under UAS control. |
| L1CAM (human) | P{UAS-L1CAM.R184Q}3 | 64154 | Expresses Human L1CAM protein with a pathogenic R184Q substitution in an extracellular Ig domain under UAS control. |
| L1CAM (human) | P{UAS-L1CAM.R184Q}2 | 64276 | Expresses Human L1CAM protein with a pathogenic R184Q substitution in an extracellular Ig domain under UAS control. |
| L1CAM (human) | P{UAS-L1CAM.L120V}3 | 64155 | Expresses Human L1CAM protein with a pathogenic L120V substitution in an extracellular Ig domain under UAS control. |
| L1CAM (human) | P{UAS-L1CAM.I219T}3 | 64158 | Expresses Human L1CAM protein with a pathogenic I219T substitution in an extracellular Ig domain under UAS control. |
| L1CAM (human) | P{UAS-L1CAM.I219T}2 | 64157 | Expresses Human L1CAM protein with a pathogenic I219T substitution in an extracellular Ig domain under UAS control. |
| L1CAM (human) | P{UAS-L1CAM.H38}3 | 64156 | Expresses Human L1CAM protein with a pathogenic E309K substitution in an extracellular Ig domain under UAS control. |
| L1CAM (human) | P{UAS-L1CAM.H1}2 | 64152 | Expresses Human L1CAM protein with a pathogenic Y1070C substitution in an extracellular fibronectin domain under UAS control. |
| L1CAM (human) | P{UAS-L1CAM.C264Y}2 | 64151 | Expresses Human L1CAM protein with a pathogenic C264Y substitution in an extracellular Ig domain under UAS control. |
| L1CAM (human) | P{UAS-Hsap\L1CAM.H210Q}3 | 64150 | Expresses Human L1CAM protein with a pathogenic H210Q substitution in an extracellular Ig domain under UAS control. |
| L1CAM (human) | P{UAS-L1CAM.4A}2 | 64149 | Expresses Human L1CAM protein with alanine substitutions for four juxtamembrane residues under UAS control. |
