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Muscular Dystrophies
There are more than 30 described muscular dystrophies that range in severity, time of onset and distribution of muscles affected. All are characterized by skeletal muscle defects and progressive weakening of muscles. The most common is Duchenne Muscular Dystrophy, a severe form of MD which is caused by the loss of dystrophin, an X-linked gene.

General information links for muscular dystrophies:
OMIM links for individual subtypes can be navigated to via the links under the human genes in the first table
NLM/NIH's Genetics Home Reference - do a search for "muscular dystrophy" to get a list of link to the various subtypes
NLM/NIH's Medline Plus - contains links to pages for several of the subtypes
Genes of interest for Muscular Dystrophy
Human gene Human protein Fly gene Comments
ANO5 anoctamin 5 CG6938
CAPN3 calpain 3, (p94) CalpA
CAPN3 calpain 3, (p94) CalpB
CAV3 caveolin 3 none
CHKB choline kinase beta CG2201
DAG1 Dystroglycan1 (Dystrophin-associated glycoprotein 1) Dg
DMD Dystrophin Dys
DNAJB6 DnaJ (Hsp40) homolog, subfamily B, member 6 mrj
DTNA Dystrobrevin, alpha Dyb
DTNB Dystrobrevin, beta Dyb
DUX4 Double homeobox domain 4 ??
EMD emerin ??
FKRP fukutin-related protein CG15651
FKTN fukutin ??
FRG1 facioscapulohumeral dystrophy region gene 1 FRG1
ISPD isoprenoid synthase domain-containing protein ??
ITGA7 integrin, alpha 7 mew
LAMA2 Laminin, alpha-2 wb
LARGE Acetylglucosaminyltransferase-like protein ??
LMNA Lamin A/C Lam
LMNA Lamin A/C LamC
POMGNT1 protein O-mannose beta-1,2-N-acetylglucosaminyltransferase ??
POMT1 protein O-mannosyltransferase 1 rt
POMT2 protein O-mannosyltransferase 2 tw
SGCA Sarcoglycan, alpha Scgalpha
SGCB Sarcoglycan, beta Scgbeta
SGCD Sarcoglycan, delta Scgdelta
SGCE Sarcoglycan, epsilon Scgalpha
SGCG Sarcoglycan, gamma Scgdelta Scgdelta is closer to SGCD
SNTA1 Syntrophin, alpha-1 Syn1
SNTB1 Syntrophin, beta-1 Syn1
SNTB2 Syntrophin, beta-2 Syn1
SNTG1 Syntrophin, gamma 1 Syn2
SNTG2 Syntrophin, gamma 2 Syn2
TCAP titin-cap ??
TRIM32 tripartite motif containing 32 ??
TTN Titin bt
TTN Titin sls

Stocks for studying muscular dystrophies
Relevant gene in stock Fly disease model or related mutation or transgene Stk # Comments
bt bt[1] 636 bt mutation, temperature sensitive
bt bt[1] 640 bt mutation, temperature sensitive
bt bt[l-k] 4467 bt mutant caused by X-ray mutagenesis
bt bt[l-b] 4231 bt mutant caused by X-ray mutagenesis
bt bt[D] 638 dominant bt mutant caused by X-ray mutagenesis
bt P{TRiP.JF01108}attP2 31546 Expresses dsRNA for RNAi of bt (FBgn0005666) under UAS control
bt P{TRiP.JF01107}attP2 31545 Expresses dsRNA for RNAi of bt (FBgn0005666) under UAS control
CG15651 P{TRiP.JF03295}attP2 29616 Expresses dsRNA for RNAi of CG15651 (FBgn0034567) under UAS control
CG15651 P{TRiP.HMC03463}attP40 51889 Expresses dsRNA for RNAi of CG15651 (FBgn0034567) under UAS control.
Dg Dg[O86] 63049 Amino acid change R87@
Dg PBac{5HPw[+]}Dg[B148] 16156 This PBac{5HPw+} insertion in the last exon (non-coding) is uncharacterized but is an unverified lethal (suggesting it may disrupt function) 8/4/12
Dg Dg[O43] 63048 Amino acid change W462@
Dg P{TRiP.HMS01240}attP2 34895 Expresses dsRNA for RNAi of Dg (FBgn0034072) under UAS control
Dg P{UAS-Dg.C.R}1.1 63052 Expresses the C isoform of Dg under UAS control.
Dg P{UAS-Dg.B.R}52 63051 Expresses the B isoform of Dg under UAS control.
Dg P{UAS-Dg.A.R}F13 63050 Expresses the A isoform of Dg under UAS control.
DUX4 (human) P{UASp-hDUX4.MAL}26 64455 Expresses human DUX4 tagged at the N-terminus with HA under the control of UASp. DUX4 protein translation starts at the 'MAL' start codon.
Dyb P{TRiP.HMS00728}attP2 32935 Expresses dsRNA for RNAi of Dyb (FBgn0033739) under UAS control
Dyb P{TRiP.HM05271}attP2 36101 Expresses dsRNA for RNAi of Dyb (FBgn0033739) under UAS control
Dys Dys[E17] 63047 Dys hypomoprphic allele
Dys Dys[det-1] 63046 Dys hypomoprphic allele
Dys Mi{MIC}Dys[MI01893] 37029 This Mi{MIC} insertion is in an intron but is an unverified lethal suggesting it may disrupt function.
Dys Mi{ET1}Dys[MB02524] 24182 This Mi{ET1} insertion is in coding sequence but is viable. It is unknown if function is disrupted (but viable Dys alleles do exist).
Dys P{TRiP.JF01118}attP2 31553 Expresses dsRNA for RNAi of Dys (FBgn0260003) under UAS control
Dys P{TRiP.HMC03789}attP40 55641 Expresses dsRNA for RNAi of Dys (FBgn0260003) under UAS control.
Dys Mi{PT-GFSTF.0}Dys[MI01893-GFSTF.0] 59782 Recombination Mediated Cassette Exchange of a Mi{MIC} insertion results in expression of Dys tagged with EGFP-FlAsH-StrepII-TEV-3xFlag.
Dys P{EP}Dys[EP3397] 17121 P{EP} insertion in first intron (or in 5' UTR depending on the transcript) show Dys mutant phenotypes
dystroglycan1 (human) P{UAS-hDAG1.C}2 38621 Expresses human DAG1 (dystroglycan 1/dystrophin-associated glycoprotein 1) under the control of UAS
FRG1 P{UAS-HA-FRG1}12 64457 Expresses FRG1 tagged at the N-terminus with HA under the contro of UAS. Likely expresses at higher levels than P{UAS-HA-FRG1}11
FRG1 P{UAS-HA-FRG1}11 64456 Expresses FRG1 tagged at the N-terminus with HA under the contro of UAS. Likely expresses at lower levels than P{UAS-HA-FRG1}12
LamC Mi{MIC}LamC[MI05494] 60784 This Mi{MIC} insertion in fourth exon (coding) of LamC is uncharacterized but is an unverified lethal (suggesting it may disrupt function).
LamC LamC[k11904] 11050 This P{lacW} insertion is likely lethal but could also be a ttk mutation.
LamC P{TRiP.JF01406}attP2 31621 Expresses dsRNA for RNAi of LamC (FBgn0010397) under UAS control
LamC P{PTT-GB}LamC[G00158] 35516 This P{PTT-GB}insertion in the first intron is uncharacterized but is a verified lethal (note it could also be ttk mutation and is in wrong orientation to be a protein trap for LamC)
LamC P{PTT-GB}LamC[G00158] 6837 This P{PTT-GB}insertion in the first intron is uncharacterized but is a verified lethal (note it could also be ttk mutation and is in wrong orientation to be a protein trap for LamC)
LamC P{PTT-GB}LamC[CB04957] 51528 This P{PTT-GB}insertion in the first intron acts as a protein trap.
rt rt[P] 10060 rt mutant caused by insertion of a P{hsneo} transposon
rt rt[2] 594 rt mutant caused by insertion of a transposable element
rt P{SUPor-P}rt[KG04772] 14434 rt mutant caused by a P{SUPor-P} insertion in the first exon (in non-coding) of rt.
rt P{TRiP.HMC03363}attP40 51805 Expresses dsRNA for RNAi of rt (FBgn0003292) under UAS control.
rt P{EPgy2}rt[EY03479] 17322 This P{EPgy2} insertion in the first exon (in coding) of rt is uncharacterized but is an unverified lethal (suggesting it may disrupt function) 8/4/12
rt P{UASp-YFP.Rab1.Q70L}rt[12a] 9758 Expresses a constitutively active, YFP-tagged Rab1 protein under UAS control.
Scgalpha P{TRiP.HMS00997}attP2 34027 Expresses dsRNA for RNAi of Scgalpha (FBgn0032013) under UAS control
Scgbeta P{TRiP.JF03228}attP2 29551 Expresses dsRNA for RNAi of Scgbeta (FBgn0038042) under UAS control
Scgdelta P{SUPor-P}Scgdelta[KG05430] 13543 This P{SUPor-P} insertion just upstream of the first exon causes heart defects.
Scgdelta P{TRiP.JF01984}attP2 25964 Expresses dsRNA for RNAi of Scgdelta (FBgn0025391) under UAS control
Scgdelta P{TRiP.HMC04012}attP40 55325 Expresses dsRNA for RNAi of Scgdelta (FBgn0025391) under UAS control.
Syn1 P{TRiP.JF02654}attP2 27504 Expresses dsRNA for RNAi of Syn1 (FBgn0037130) under UAS control
Syn1 P{TRiP.HMJ23613}attP40 61987 Expresses dsRNA for RNAi of Syn1 (FBgn0037130) under UAS control.
Syn2 Mi{MIC}Syn2[MI02649] 36020 This Mi{MIC} insertion in 5' most exon of Syn2 (in non-coding) is uncharacterized but is an unverified lethal (suggesting it may disrupt function) 8/4/12
Syn2 P{TRiP.JF02999}attP2 28363 Expresses dsRNA for RNAi of Syn2 (FBgn0034135) under UAS control
Syn2 P{TRiP.HMS02433}attP40 42601 Expresses dsRNA for RNAi of Syn2 (FBgn0034135) under UAS control.
tw tw[1] 134 tw hypomoprhic allele caused by a T59 to GS in the PMT domain
tw P{TRiP.HMC03806}attP40 55735 Expresses dsRNA for RNAi of tw (FBgn0086368) under UAS control.
wb wb[SF20] 29033 wb mutant
wb wb[SF11] 3409 wb mutant
wb wb[3] 43337 wb mutant
wb P{TRiP.JF03238}attP2 29559 Expresses dsRNA for RNAi of wb (FBgn0004002) under UAS control
wb PBac{IT.GAL4}wb[1298-G4] 65655 May express GAL4 in some or all of the pattern of the wb gene.
wb P{PZ}wb[09437] 12362 wb allele from a P{PZ} insertion in the fourth intron