Type I Neurofibromatosis is characterized by the growth of benign neurofibromas along nerves and changes in skin pigmentation. Other symptoms can include Lisch nodules in the iris, macrocephaly, high blood pressure, spine curvatures and malignant peripheral nerve sheath tumors.
General information links for Neurofibromatosis, Type I:
Genes of interest for Neurofibromatosis, Type 1 |
|---|
| Syndrome | Human gene | Human protein | Fly Gene |
|---|---|---|---|
| Neurofibromatosis type I | NF1 | Neurofibromin I | Nf1 |
Stocks for studying Neurofibromatosis, Type 1 |
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| Relevant gene in stock | Fly disease model or related mutation or transgene | Stk # | Comments |
|---|---|---|---|
| Nf1 | PBac{PB}Nf1[c00617] | 10201 | This PBac{PB} insertion in the 8th intron causes memory defects. |
| Nf1 | Mi{MIC}Nf1[MI01388] | 34427 | This Mi{MIC} is inserted in coding sequence in the 12th exon. It is uncharacterized but is an unverified lethal suggesting it may disrupt function. |
| Nf1 | P{TRiP.JF01866}attP2 | 25845 | Expresses dsRNA for RNAi of Nf1 (FBgn0015269) under UAS control. |
| Nf1 | P{TRiP.JF01767}attP2 | 31466 | Expresses dsRNA for RNAi of Nf1 (FBgn0015269) under UAS control. |
| Nf1 | P{TRiP.HMC03551}attP40 | 53322 | Expresses dsRNA for RNAi of Nf1 (FBgn0015269) under UAS control. |
| Nf1 | P{TKO.GS01796}attP40 | 80739 | Expresses sgRNA ubiquitously for Cas9-mediated mutagenesis of Nf1 (FBgn0015269). |
| Nf1 | P{TOE.GS02013}attP40 | 78681 | Expresses sgRNAs ubiquitously for expression of Nf1 (FBgn0015269) by a Cas9-based transcriptional activator. |
