|
Mammalian Gene Name
|
Human Disease Gene
|
C. elegansHomolog
|
Mutant Strain Available in Core B
|
C. elegans Mutant Phenotype(s)
|
Transgenic Fusion Line
|
Protein Localization
|
|
KIF3A
|
|
klp-20
|
No
|
ND
|
|
Cilia
|
|
IFT20
|
|
ift-20
|
Yes
|
AC, Che, Dyf, L, M
|
GFP / CFP
|
Cilia
|
|
IFT52
|
|
che-13
|
Yes
|
AC, Che, Dyf, L, M
|
CFP/YFP
|
Cilia
|
|
IFT81
|
Yes
|
ift-81
|
Yes
|
AC, Che, Dyf, L, M
|
|
|
|
IFT88
|
|
osm-5
|
Yes
|
AC, Che, F, Dyf, L, M
|
GFP/CFP/YFP
|
Cilia
|
|
IFT122
|
|
daf-10
|
Yes
|
AC, Che, Dyf, L, M
|
|
|
|
IFT140
|
|
che-11
|
Yes
|
AC, Che, Dyf, L, M
|
YFP
|
Cilia
|
|
IFT172
|
|
osm-1
|
Yes
|
AC, Che, Dyf, L, M
|
CFP/YFP
|
Cilia
|
|
TRAF3IP
|
|
dyf-11
|
Yes
|
AC, Che, Dyf
|
GFP
|
Cilia
|
|
CLAUP1
|
|
dyf-3
|
Yes
|
AC, Che, Dyf
|
|
|
|
RABL5
|
|
ifta-2
|
Yes
|
F, L
|
GFP
|
Cilia
|
|
PKD1
|
Yes
|
lov-1
|
Yes
|
M
|
|
Male Cilia
|
|
PKD2
|
Yes
|
pkd-2
|
Yes
|
M
|
GFP
|
Male Cilia
|
|
MKS1
|
Yes
|
mks-1
|
Yes
|
|
YFP/RFP
|
Base of Cilia
|
|
B9D1 (mksr2)
|
|
mksr-1
|
Yes
|
F, L
|
CFP/RFP
|
Base of Cilia
|
|
B9D2/
stumpy
Mksr1
|
|
mksr-2
|
Yes
|
F, L
|
YFP/RFP
|
Base of Cilia
|
|
MKS3
(Meckelin)
|
Yes
|
mks-3
|
Yes
|
Che
|
GFP/RFP
|
Base of Cilia
|
|
MKS5
(RPGRIP1L)
|
Yes
|
mks-5
|
Yes
|
ND
|
RFP
|
Base of Cilia
|
|
MKS6
|
Yes
|
mks-6
|
Yes
|
ND
|
GFP
|
Base of Cilia
|
|
NPHP1
|
Yes
|
nphp-1
|
Yes
|
Che, F, L
|
CFP/RFP
|
Base of Cilia
|
|
NPHP2
inversin
|
Yes
|
nphp-2
|
Yes
|
Dyf
|
GFP
|
Base of Cilia
|
|
NPHP4
|
Yes
|
nphp-4
|
Yes
|
Che, F, L
|
YFP
|
Base of Cilia
|
|
NPHP9/NEK8
|
|
nekl-1
|
No
|
ND
|
|
|
|
BBS1
|
Yes
|
bbs-1
|
No
|
ND
|
GFP
|
Cilia
|
|
BBS2
|
Yes
|
bbs-2
|
No
|
ND
|
|
|
|
BBS3
|
Yes
|
arl-6
|
No
|
ND
|
|
|
|
BBS4
|
Yes
|
F58A4.14
|
No
|
ND
|
|
|
|
BBS5
|
Yes
|
bbs-5
|
No
|
ND
|
|
Cilia
|
|
BBS7
|
Yes
|
osm-12
|
Yes
|
Che, Dyf
|
GFP
|
Cilia
|
|
BBS8
|
Yes
|
bbs-8
|
Yes
|
Che, Dyf
|
GFP
|
Cilia
|
|
BBS9
|
Yes
|
bbs-9
|
No
|
ND
|
|
|
|
JBTS1
|
Yes
|
cil-1
|
No
|
ND
|
|
|
|
JBTS8/
Henin
|
Yes
|
arl-13b
|
No
|
ND
|
GFP
|
Cilia
|
# Mutant line is not currently in Core B but is available through the C. elegans Genetic Center
Phenotypes: AC- Absent Cilia, Che –Chemotaxis or Osmotic Avoidance, F-Foraging, Dyf –Dye filling defective, L – Lifespan, M- Male mating defective, ND- Phenotype Not Determined
|
