Primary Ciliary Dyskinesia

Primary Ciliary Dyskinesia (PCD), also known as Kartegener Syndrome or Immotile Cilia Syndrome, is an inherited disorder characterized by chronic ear, sinus and/or lung infections and infertility. Individuals with PCD may also have situs inversus or situs ambiguous, headaches or hydrocephalus. All the causative genes identified thus far have roles in the development and function of cilia and flagella.

General information links for Primary Ciliary Dyskinesia:

Causative genes for Primary Ciliary Dyskinesia Diseases
Syndrome subtypeHuman geneHuman proteinFly GeneComments
Ciliary dyskinesia, primary, 1DNAI1dynein, axonemal, intermediate chain 1CG9313
Ciliary dyskinesia, primary, 2DNAAF3dynein, axonemal, assembly factor 3CG17669
Ciliary dyskinesia, primary, 3DNAH5dynein, axonemal, heavy chain 5CG9492
Ciliary dyskinesia, primary, 4no gene identified
Ciliary dyskinesia, primary, 5HYDINHYDIN, axonemal central pair apparatus protein??
Ciliary dyskinesia, primary, 6NME8NME/NM23 family member 8??CG18130, CG14221 or nmdyn-D6?
Ciliary dyskinesia, primary, 7DNAH11dynein, axonemal, heavy chain 11CG3339
Ciliary dyskinesia, primary, 7DNAH11dynein, axonemal, heavy chain 11Dhc93AB
Ciliary dyskinesia, primary, 8no gene identified
Ciliary dyskinesia, primary, 9DNAI2dynein, axonemal, intermediate chain 2Dnai2
Ciliary dyskinesia, primary, 10DNAAF2dynein, axonemal, assembly factor 2Nop17l
Ciliary dyskinesia, primary, 11RSPH4Aradial spoke head 4 homolog ARsph4a
Ciliary dyskinesia, primary, 12RSPH9radial spoke head 9 homologRsph9
Ciliary dyskinesia, primary, 13DNAAF1dynein, axonemal, assembly factor 1dtr
Ciliary dyskinesia, primary, 14CCDC39coiled-coil domain containing 39CG17387
Ciliary dyskinesia, primary, 15CCDC40coiled-coil domain containing 40l(2)41Ab
Ciliary dyskinesia, primary, 16DNAL1dynein, axonemal, light chain 1CG8800
Ciliary dyskinesia, primary, 17CCDC103coiled-coil domain containing 103CG13202
Ciliary dyskinesia, primary, 18DNAAF5Dynein, axonemal, assembly factor 5HEATR2
Ciliary dyskinesia, primary, 19DNAAF11dynein axonemal assembly factor 11tilB
Ciliary dyskinesia, primary, 20ODAD1outer dynein arm docking complex subunit 1CG14905
Ciliary dyskinesia, primary, 21DRC1dynein regulatory complex, subunit 1CG10958
Ciliary dyskinesia, primary, 22ZMYND10zinc finger, MYND-type containing 10Zmynd10
Ciliary dyskinesia, primary, 23ODAD2outer dynein arm docking complex subunit 2gudu
Ciliary dyskinesia, primary, 24RSPH1radial spoke head 1 homologRsph1
Ciliary dyskinesia, primary, 25DNAAF4Dynein, axonemal, assembly factor 4CG14921?
Ciliary dyskinesia, primary, 26CFAP298Cilia- and flagella-associated protein 298CG18675
Ciliary dyskinesia, primary, 27CCDC65coiled-coil domain containing 65CG30259
Ciliary dyskinesia, primary, 28SPAG1sperm associated antigen 1Spag1

Stocks for studying Primary Ciliary Dyskinesia (note CGs do not sort properly)
Relevant gene in stockFly disease model or related mutation or transgeneStk #Comments
CG17387Mi{MIC}CG17387[MI11022]55573This Mi{MIC} insertion in the second intron is uncharacterized but is an unverified lethal suggesting it may disrupt function.
CG17387P{TRiP.HMC03489}attP4053273Expresses dsRNA for RNAi of CG17387 (FBgn0037276) under UAS control.
CG17387P{TKO.GS00844}attP4077056Expresses sgRNA ubiquitously for Cas9-mediated mutagenesis of CG17387 (FBgn0037276).
CG17387P{TOE.GS02499}attP4080187Expresses sgRNAs ubiquitously for expression of CG17387 (FBgn0037276) by a Cas9-based transcriptional activator.
CG18675CG18675[MI07253]43624This Mi{MIC} insertion in an intron of CG18675 as well as an intron of Teh4 is uncharacterized but is an unverified lethal suggesting it disrupts function of one gene or the other.
CG18675CG18675[MI06129]42372This Mi{MIC} insertion in an intron of CG18675 as well as an intron of Teh2 is uncharacterized but is an unverified lethal suggesting it disrupts function of one gene or the other.
CG18675CG18675[MI03086]36427This Mi{MIC} insertion in an intron of CG18675 as well as an intron of Teh4 is uncharacterized but is an unverified lethal suggesting it disrupts function of one gene or the other.
CG30259P{TRiP.HMS02548}attP4042856Expresses dsRNA for RNAi of CG30259 (FBgn0050259) under UAS control.
CG3339P{TRiP.HMC03741}attP255605Expresses dsRNA for RNAi of CG3339 (FBgn0039510) under UAS control.
CG3339Mi{PT-GFSTF.2}CG3339[MI00332-GFSTF.2]60148Recombination Mediated Cassette Exchange of a Mi{MIC} insertion results in expression of CG3339 tagged with EGFP-FlAsH-StrepII-TEV-3xFlag.
CG8800P{TRiP.HMJ30157}attP4063590Expresses dsRNA for RNAi of CG8800 (FBgn0033408) under UAS control in the VALIUM20 vector.
CG8800P{TRiP.HMC03511}attP4053295Expresses dsRNA for RNAi of CG8800 (FBgn0033408) under UAS control.
CG8800P{TKO.GS01807}attP4079770Expresses sgRNA ubiquitously for Cas9-mediated mutagenesis of CG8800 (FBgn0033408).
CG8800P{TOE.GS01433}attP4078235Expresses sgRNAs ubiquitously for expression of CG8800 (FBgn0033408) by a Cas9-based transcriptional activator.
CG9313Mi{ET1}CG9313[MB06913]25631This Mi{ET1} insertion is uncharacterized but is inserted in a coding exon (exon 6) and could therefore potentially disrupt function.
CG9313P{TRiP.HMC03462}attP4051888Expresses dsRNA for RNAi of CG9313 (FBgn0034566) under UAS control.
CG9313P{TKO.GS00579}attP4076410Expresses sgRNA ubiquitously for Cas9-mediated mutagenesis of CG9313 (FBgn0034566).
CG9313P{TOE.GS01403}attP4078218Expresses sgRNAs ubiquitously for expression of CG9313 (FBgn0034566) by a Cas9-based transcriptional activator.
Dhc1P{SUPor-P}Dhc1[KG02504]13745This P{SUPor-P} insertion in coding sequence results in loss of expression and hearing defects (see FBrf0219321).
Dhc1Mi{MIC}Dhc1[MI02049]35959This Mi{MIC} insertion is uncharacterized but is inserted in coding sequence and is an unverified lethal suggesting it could disrupt function.
Dhc1Mi{PT-GFSTF.1}Dhc1[MI09168-GFSTF.1]60272Recombination Mediated Cassette Exchange of a Mi{MIC} insertion results in expression of CG9492 tagged with EGFP-FlAsH-StrepII-TEV-3xFlag.
Dhc93ABMi{ET1}Dhc93AB[MB05444]25298This Mi{ET1} insertion is inserted in coding sequence (exon 4) resulting in strongly reduced expression (see FBrf0219321).
Dhc93ABMi{MIC}Dhc93AB[MI03486]37789This Mi{ET1} insertion is uncharacterized but is inserted in coding sequence and may therefore disrupt function.
Dhc93ABP{TRiP.HMC03281}attP251511Expresses dsRNA for RNAi of Dhc93AB (FBgn0013812) under UAS control.
Dhc93ABTI{CRIMIC.TG4.2}Dhc93AB[CR00454-TG4.2]80583CRISPR-based insertion of a CRIMIC cassette results in expression of GAL4 under Dhc93AB control and truncation of the Dhc93AB protein.
Dnai2Mi{ET1}Dnai2[MB06262]25491This Mi{ET1} insertion in the first exon (in coding sequence) causes hearing defects (see FBrf0219321).
Dnai2Mi{MIC}Dnai2[MI15741]61143This Mi{MIC} insertion in a coding exon of Dnai2 is uncharacterized but is an unverified lethal suggesting it may disrupt function.
Dnai2P{TRiP.HMS05822}attP4067961Expresses dsRNA for RNAi of Dnai2 (FBgn0036195) under UAS control in the VALIUM20 vector.
DNAL1 (human)M{UAS-hDNAL1.HA}ZH-86Fb66017Expresses human DNAL1 under UAS control.
dtrPBac{IT.GAL4}dtr[0043-G4]62593This PBac{IT.GAL4} insertion in a coding exon of dtr is uncharacterized but is an unverified lethal suggesting it may disrupt function.
dtrMi{ET1}dtr[MB11825]29256This Mi{ET1} insertion is uncharacterized but is inserted in coding sequence (exon 6) and may therefore disrupt function.
dtrP{TRiP.JF01830}attP225812Expresses dsRNA for RNAi of dtr (FBgn0023090) under UAS control.
dtrTI{CRIMIC.TG4.2}dtr[CR01606-TG4.2]86463CRISPR-based insertion of a CRIMIC cassette results in expression of GAL4 under dtr control and truncation of the dtr protein.
guduP{TRiP.JF01141}attP231568Expresses dsRNA for RNAi of CG5155 (FBgn0031905) under UAS control.
Nop17lP{EP}Nop17l[G18778]28105This P{EP} insertion is uncharacterized. It is inserted into exon 1 of the Nop17l-RC transcript (in 5' noncoding) and is oriented correctly to overexpress Nop17l when GAL4 is present.
Rsph4aP{TRiP.HMS01721}attP4038524Expresses dsRNA for RNAi of CG3121 (FBgn0034957) under UAS control.
Rsph4aP{TKO.GS00768}attP4076995Expresses sgRNA ubiquitously for Cas9-mediated mutagenesis of CG3121 (FBgn0034957).
Rsph4aP{TOE.GS01393}attP4078213Expresses sgRNAs ubiquitously for expression of CG3121 (FBgn0034957) by a Cas9-based transcriptional activator.
Rsph9P{TRiP.HMC03567}attP4053338Expresses dsRNA for RNAi of CG31803 (FBgn0051803) under UAS control.
Rsph9TI{CRIMIC.TG4.1}CG15141[CR00912-TG4.1]79356CRISPR-based insertion of a CRIMIC cassette results in expression of GAL4 under CG15141 control and truncation of the CG15141 protein.
Rsph9P{TKO.GS00650}attP4076474Expresses sgRNA ubiquitously for Cas9-mediated mutagenesis of CG31803 (FBgn0051803).
Rsph9P{TOE.GS01352}attP4079437Expresses sgRNAs ubiquitously for expression of CG31803 (FBgn0051803) by a Cas9-based transcriptional activator.
tilBP{TRiP.JF03324}attP229391Expresses dsRNA for RNAi of tilB (FBgn0014395) under UAS control.
Zmynd10P{EPgy2}Zmynd10[EY10866]20637This P{EPgy2} insertion in the last intron of Zmynd10 results in strong reduction or loss of Zymynd10 expression, uncoordinated behavior, male infertility, hearing defects and both inner and outer dynein arm defects (see FBrf0223083 and FBrf0219321).