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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:
NLM/NIH's Genetic and Rare Disease Information Center
PCD Foundation
Genetics Home Reference
Causative genes for Primary Ciliary Dyskinesia
Syndrome subtype Human gene Human full name Fly gene Comment
Ciliary dyskinesia, primary, 1 DNAI1 dynein, axonemal, intermediate chain 1 CG9313
Ciliary dyskinesia, primary, 2 DNAAF3 dynein, axonemal, assembly factor 3 CG17669
Ciliary dyskinesia, primary, 3 DNAH5 dynein, axonemal, heavy chain 5 CG9492
Ciliary dyskinesia, primary, 4 no gene identified
Ciliary dyskinesia, primary, 5 HYDIN HYDIN, axonemal central pair apparatus protein ??
Ciliary dyskinesia, primary, 6 NME8 NME/NM23 family member 8 ?? CG18130, CG14221 or nmdyn-D6?
Ciliary dyskinesia, primary, 7 DNAH11 dynein, axonemal, heavy chain 11 CG3339
Ciliary dyskinesia, primary, 7 DNAH11 dynein, axonemal, heavy chain 11 Dhc93AB
Ciliary dyskinesia, primary, 8 no gene identified
Ciliary dyskinesia, primary, 9 DNAI2 dynein, axonemal, intermediate chain 2 CG6053
Ciliary dyskinesia, primary, 10 DNAAF2 dynein, axonemal, assembly factor 2 Nop17l
Ciliary dyskinesia, primary, 11 RSPH4A radial spoke head 4 homolog A CG3121
Ciliary dyskinesia, primary, 12 RSPH9 radial spoke head 9 homolog CG31803
Ciliary dyskinesia, primary, 13 DNAAF1 dynein, axonemal, assembly factor 1 dtr
Ciliary dyskinesia, primary, 14 CCDC39 coiled-coil domain containing 39 CG17387
Ciliary dyskinesia, primary, 15 CCDC40 coiled-coil domain containing 40 l(2)41Ab
Ciliary dyskinesia, primary, 16 DNAL1 dynein, axonemal, light chain 1 CG8800
Ciliary dyskinesia, primary, 17 CCDC103 coiled-coil domain containing 103 CG13202
Ciliary dyskinesia, primary, 18 HEATR2 HEAT repeat containing 2 CG31320
Ciliary dyskinesia, primary, 19 LRRC6 leucine rich repeat containing 6 tilB
Ciliary dyskinesia, primary, 20 CCDC114 coiled-coil domain containing 114 CG14905
Ciliary dyskinesia, primary, 21 DRC1 dynein regulatory complex, subunit 1 CG10958
Ciliary dyskinesia, primary, 22 ZMYND10 zinc finger, MYND-type containing 10 CG11253
Ciliary dyskinesia, primary, 23 ARMC4 armadillo repeat containing 4 CG5155
Ciliary dyskinesia, primary, 24 RSPH1 radial spoke head 1 homolog CG5458
Ciliary dyskinesia, primary, 25 DYX1C1 dyslexia susceptibility 1 candidate gene 1 CG14921?
Ciliary dyskinesia, primary, 26 C21ORF59 chromosome 21 open reading frame 59 CG18675
Ciliary dyskinesia, primary, 27 CCDC65 coiled-coil domain containing 65 CG30259
Ciliary dyskinesia, primary, 28 SPAG1 sperm associated antigen 1 CG18472

Stocks for studying Primary Ciliary Dyskinesia (in alphabetical order)
Relevant gene in stock Fly disease model or related mutation or transgene Stk # Comments
CG3121 P{TRiP.HMS01721}attP40 38524 Expresses dsRNA for RNAi of CG3121 (FBgn0034957) under UAS control.
CG3339 P{TRiP.HMC03741}attP2 55605 Expresses dsRNA for RNAi of CG3339 (FBgn0039510) under UAS control.
CG8800 P{TRiP.HMC03511}attP40 53295 Expresses dsRNA for RNAi of CG8800 (FBgn0033408) under UAS control.
CG9313 Mi{ET1}CG9313[MB06913] 25631 This Mi{ET1} insertion is uncharacterized but is inserted in a coding exon (exon 6) and could therefore potentially disrupt function.
CG9313 P{TRiP.HMC03462}attP40 51888 Expresses dsRNA for RNAi of CG9313 (FBgn0034566) under UAS control.
CG9492 P{SUPor-P}CG9492[KG02504] 13745 This P{SUPor-P} insertion in coding sequence results in loss of expression and hearing defects (see FBrf0219321).
CG9492 Mi{MIC}CG9492[MI02049] 35959 This Mi{MIC} insertion is uncharacterized but is inserted in coding sequence and is an unverified lethal suggesting it could disrupt function.
CG9492 P{TRiP.HMC03269}attP2 51725 Expresses dsRNA for RNAi of CG9492 (FBgn0037726) under UAS control.
CG17387 Mi{MIC}CG17387[MI11022] 55573 This Mi{MIC} insertion in the second intron is uncharacterized but is an unverified lethal suggesting it may disrupt function.
CG17387 P{TRiP.HMC03489}attP40 53273 Expresses dsRNA for RNAi of CG17387 (FBgn0037276) under UAS control.
CG18675 CG18675[MI07253] 43624 This 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.
CG18675 CG18675[MI06129] 42372 This 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.
CG18675 CG18675[MI03086] 36427 This 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.
CG30259 P{TRiP.HMS02548}attP40 42856 Expresses dsRNA for RNAi of CG30259 (FBgn0050259) under UAS control.
CG31803 P{TRiP.HMC03567}attP40 53338 Expresses dsRNA for RNAi of CG31803 (FBgn0051803) under UAS control.
Dhc93AB Mi{ET1}Dhc93AB[MB05444] 25298 This Mi{ET1} insertion is inserted in coding sequence (exon 4) resulting in strongly reduced expression (see FBrf0219321).
Dhc93AB Mi{MIC}Dhc93AB[MI03486] 37789 This Mi{ET1} insertion is uncharacterized but is inserted in coding sequence and may therefore disrupt function.
Dhc93AB P{TRiP.HMC03281}attP2 51511 Expresses dsRNA for RNAi of Dhc93AB (FBgn0013812) under UAS control.
Dnai2 Mi{ET1}Dnai2[MB06262] 25491 This Mi{ET1} insertion in the first exon (in coding sequence) causes hearing defects (see FBrf0219321).
dtr Mi{ET1}dtr[MB11825] 29256 This Mi{ET1} insertion is uncharacterized but is inserted in coding sequence (exon 6) and may therefore disrupt function.
dtr P{TRiP.JF01830}attP2 25812 Expresses dsRNA for RNAi of dtr (FBgn0023090) under UAS control.
gudu P{TRiP.JF01141}attP2 31568 Expresses dsRNA for RNAi of CG5155 (FBgn0031905) under UAS control.
Nop17l P{EP}Nop17l[G18778] 28105 This 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.
tilB P{TRiP.JF03324}attP2 29391 Expresses dsRNA for RNAi of tilB (FBgn0014395) under UAS control.
Zmynd10 P{EPgy2}Zmynd10[EY10866] 20637 This 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).