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Hereditary spastic paraplegias (SPGs) are a group of neurodegenerative disorders associated with degeneration of corticospinal axons and generally characterized by progressive spasticity in the lower extremities. Fly stocks in the Bloomington collection that can be used to study hereditary spastic paraplegias are listed here. General information links for Hereditary spastic paraplegia: OMIM links for individual subtypes are provided in the table below NLM/NIH's Genetics Home Reference - contains links to GHR pages for several of the subtypes NIH's Genetics and Rare Disease Information Center |
| SPG subtypes with causative genes identified (from OMIM) | |||
|---|---|---|---|
| SPG subtype | Human gene | Human protein | Fly gene |
| SPG1/L1 or MASA syndrome | L1CAM | L1CAM | Neuroglian (Nrg) |
| SPG2 | PLP1 | PLP1 and DM20 | M6 |
| SPG3A/Strumpell disease | SPG3A | atlastin | atlastin (atl) |
| SPG4 | SPG4 | spastin | spastin (spas) |
| SPG5A | CYP7B1 | CYP7B1 | |
| SPG6 | NIPA1 | NIPA1 | spichthycin (spict) |
| SPG7 | SPG7 | paraplegin | CG2658 |
| SPG8 | KIAA0196 | strumpellin | CG12272 |
| SPG10 | KIF5A | KIF5A | Kinesin heavy chain (Khc) |
| SPG11 | SPG11 | spatacsin | CG13531 |
| SPG13 | HSPD1 | Hsp60 | Hsp60A |
| SPG15 | ZFYVE26 | spastizin | CG5270 |
| SPG17/Silver syndrome | BSCL2 | seipin | Seipin |
| SPG20/Troyer syndrome | SPG20 | spartin | spartin |
| SPG21/Mast syndrome | ACP33 | maspardin/ACP33 | |
| SPG31 | REEP1 | REEP1 | Reep1 |
| SPG33 | ZFYVE27 | ZFYVE27 | |
| SPG42 | SLC33A1 | AT1/SLC33A1 | CG9706 |
| Relevant gene in stock | Fly disease model or related mutation or transgene | Stk # | Comments | ||
|---|---|---|---|---|---|
| SPG1 Human LICAM Fly Nrg | |||||
| Nrg | Nrg[l7] | 5595 | Nrg loss of function mutation (W80stop) | ||
| Nrg | Nrg[l4] | 5708 | loss of function mutation in Nrg | ||
| Nrg | Nrg[849] | 35827 | loss of function allele of Nrg caused by aa change S213L | ||
| Nrg | P{lacW}Nrg[G0488b] | 12275 | This P{lacW} insertion in the 3rd intron results in disruption of Nrg. | ||
| Nrg | P{lacW}Nrg[G0413] | 12252 | This P{lacW} insertion in the 4th exon (a coding exon) results in disruption of Nrg. | ||
| Nrg | P{lacW}Nrg[G0099] | 11814 | This P{lacW} insertion in the 1st exon or intron (depending on the transcript) results in disruption of Nrg. | ||
| Nrg | Nrg[l10] | 24167 | temperature-sensitive mutation in Nrg | ||
| Nrg | P{TRiP.JF03151}attP2 | 28724 | Expresses dsRNA for RNAi of Nrg under UAS control. | ||
| Nrg | P{TRiP.HMS01638}attP40 | 37496 | Expresses dsRNA for RNAi of Nrg (FBgn0002968) under the control of UAS. | ||
| Nrg | P{TRiP.GL00656}attP40 | 38215 | Expresses dsRNA for RNAi of Nrg (FBgn0002968) under the control of UAS. | ||
| Nrg | P{PTT-GA}Nrg[G00305] | 6844 | A GFP trap inserted in an Nrg intron. Expresses GFP-tagged Neuroglian. | ||
| Nrg | P{UAS-nrg[180]}30b | 24170 | Expresses the 180 kDa neuronal-specific isoform of Nrg under the control of UAS. | ||
| Nrg | P{UAS-nrg[180]}28b | 24169 | Expresses the 180 kDa neuronal-specific isoform of Nrg under the control of UAS. | ||
| Nrg | P{UAS-nrg[167]}2 | 24172 | Expresses the 167 kDa isoform of Nrg under the control of UAS. | ||
| Nrg | P{UAS-Nrg.GPI}2 | 24168 | Expresses an artificial GPI-anchored Nrg under the control of UAS. | ||
| SPG2 Human PLP1 Fly M6 | |||||
| M6 | P{EPgy2}M6[EY07032] | 16780 | This P{EPgy2} insertion in the 1st exon (noncoding) results in a hypomoprhic allele. | ||
| M6 | Mi{ET1}M6[MB02608] | 24023 | This Mi{ET1} insertion in the last exon in coding sequence results in loss or reduction of function. | ||
| M6 | P{TRiP.HMS01645}attP40 | 37503 | Expresses dsRNA for RNAi of M6 (FBgn0037092) under the control of UAS. | ||
| M6 | P{TRiP.HMJ21475}attP40 | 54032 | Expresses dsRNA for RNAi of M6 (FBgn0037092) under UAS control. | ||
| SPG3 Human atlastin Fly atl | |||||
| atl | P{TRiP.HMS01627}attP40 | 36736 | Expresses dsRNA for RNAi of atl (FBgn0039213) under the control of UAS. | ||
| SPG4 Human SPG4/spastin Fly spas | |||||
| spas | P{TRiP.JF02724}attP2 | 27570 | Expresses dsRNA for RNAi of spas under UAS control | ||
| spas | P{TRiP.HMC03560}attP40 | 53331 | Expresses dsRNA for RNAi of spas (FBgn0039141) under UAS control. | ||
| SPG6 Human NIPA1 Fly spict | |||||
| spict | P{EP}spict[EP2202] | 17033 | This P{EP} insertion in 5' UTR is uncharacterized but is semi-lethal (unverified), suggesting it may cause loss of function, 9/20/10 | ||
| spict | P{TRiP.HMS01647}attP40 | 37505 | Expresses dsRNA for RNAi of spict (FBgn0032451) under the control of UAS. | ||
| spict | P{TRiP.GLC01402}attP2 | 44438 | Expresses dsRNA for RNAi of spict (FBgn0032451) under UAS control. | ||
| SPG7 Human SPG7/paraplegin Fly CG2658 | |||||
| CG2658 | P{TRiP.JF01781}attP2 | 31223 | Expresses dsRNA for RNAi of CG2658 under UAS control. | ||
| CG2658 | P{TRiP.JF01565}attP2 | 31100 | Expresses dsRNA for RNAi of CG2658 under UAS control. | ||
| CG2658 | P{TRiP.HMJ21885}attP40 | 57843 | Expresses dsRNA for RNAi of CG2658 (FBgn0024992) under UAS control. | ||
| CG2658 | P{TRiP.HMC04011}attP40 | 55324 | Expresses dsRNA for RNAi of CG2658 (FBgn0024992) under UAS control. | ||
| SPG10 Human KIF5A Fly Khc | |||||
| Khc | Khc[8] | 1607 | amorphic mutation (R210stop) in Khc | ||
| Khc | PBac{RB}Khc[e02141] | 18018 | PBac{RB} insertion 5' of Khc, has phenotypes consistent with Khc reduction or loss of function | ||
| Khc | P{lacW}Khc[k13314] | 11084 | P{lacW} insertion into the 5' UTR of Khc, has phenotypes consistent with Khc reduction or loss of function | ||
| Khc | P{lacW}Khc[k13219] | 11077 | P{lacW} insertion into the 5' UTR of Khc, has phenotypes consistent with Khc reduction or loss of function | ||
| Khc | Khc[1ts] | 31994 | temperature-sensitive hypomorphic mutation in Khc | ||
| Khc | Khc[4] | 31995 | Khc mutant with T291M change | ||
| Khc | P{TRiP.JF01939}attP2 | 25898 | Expresses dsRNA for RNAi of Khc under UAS control. | ||
| Khc | P{TRiP.HMS01519}attP2 | 35770 | Expresses dsRNA for RNAi of Khc (FBgn0001308) under the control of UAS. | ||
| Khc | P{TRiP.GL00330}attP2 | 35409 | Expresses dsRNA for RNAi of Khc (FBgn0001308) under the control of UAS. | ||
| Khc | P{KZ.TRAP}KZ1138 | 8766 | Expresses a kinesin-lacZ fusion protein in ventral and lateral chordotonal neurons. | ||
| Khc | P{UAS-Khc.EGFP}2 | 9648 | Expresses the Khc head domain (bp 248-2143) tagged with GFP under the control of UAS. | ||
| SPG13 Human Hsp60 Fly Hsp60 | |||||
| Hsp60A | Hsp60A[RA75] | 4689 | An allele of Hsp60 caused by a translocation. | ||
| Hsp60A | Hsp60A[GF319] | 4686 | An allele of Hsp60 caused by a translocation. | ||
| Hsp60A | P{TRiP.HMS01209}attP2 | 34729 | Expresses dsRNA for RNAi of Hsp60 (FBgn0015245) under the control of UAS. | ||
| SPG17 Human BSCL2/seipin Fly Seipin | |||||
| Seipin | P{TRiP.HMS01643}attP40 | 37501 | Expresses dsRNA for RNAi of Seipin (FBgn0040336) under the control of UAS. | ||
| SPG20 Human spartin Fly spartin | |||||
| spartin | P{TRiP.HMS01641}attP40 | 37499 | Expresses dsRNA for RNAi of CG12001 (FBgn0037265) under the control of UAS. | ||
| SPG31 Human REEP1 Fly CG42678 | |||||
| Reep1 | P{TRiP.HMS01642}attP40 | 37500 | Expresses dsRNA for RNAi of CG42678 (FBgn0261564) under the control of UAS. | ||