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Table 2 Mouse models of ciliopathies with retinal degeneration a

From: Photoreceptor sensory cilia and ciliopathies: focus on CEP290, RPGR and their interacting proteins

Gene symbol References for mouse model Retinal phenotype Interactorsb PR domain expressed
MAK [79] 60% ONL left at 1 month, 30% at 6 months   Axoneme
KIF3A [130, 131] Intermediate rate of degeneration; 20% of wild-type ONL thickness by 10 to 12 weeks DISC1, MAP3K11, PLEKHA5, USP7, PPP1R15A, RPGR Axoneme
RP1 [132136] Slow retinal degeneration; ~40% left at 6 months APC, MAPRE2, MAPRE3, NIF3L1, POLE Axoneme
CEP290 [30, 89, 137] Rapid retinal degeneration; ciliogenesis defects depending on strain RPGR, IFT88, PCM1, DCTN1, BBS4, MAPK10, GNG13 CC/TZ
AHI1/Jouberin [83, 138, 139] Rapid – starting to go by P12; only 2 to 3 ONL rows by P24. Very few if any OS/IS SMYD2 CC/TZ
TMEM67/MKS3 [140] Early and rapid retinal degeneration MKS1 CC/TZ
IFT88/TTC10 Tg737 [106, 141] Similar to Cep290rd16 – failure of outer segments to elongate RPGR, PRRC2A, SMNDC1, PAN3, SLC9A8 CC/TZ
KIF7 [110, 142] Retina not examined; mice die perinatally USP22 CC/TZ
LCA5 lebercilin [85] Rapid degeneration; between P12 and P28, reduced to 2 to 3 ONL rows. CC develops but little if any OS material. GRIN2B, OFD1/JBTS10, IFTs CC/TZ
RP2 [84, 143145] Only information on function of the protein in transport within cells UNC119, ARL3, YWHAB, APLP2 CC/TZ
RPGRIP1 [146, 147] Only three rows of ONL nuclei by 3 months of age. Overproduction of outer segments RPGR, NPHP4, TFE3, SRPX, CEBPA CC/TZ
TCTN1 [148] Retina not examined; mice die prenatally MKS1, TMEM216, TMEM67, CEP290, B9D1, TCTN2 AND CC2D2A. CC/TZ
RPGR [93, 95, 149, 150] Slow retinal degeneration CEP290, RPGRIP1, IFT88, KIF3A, RAB8A CC/TZ, BB
ALMS1 [151154] Slow degeneration – slight reduction in ONL thickness at 24 weeks; loss of OS over time; still some left at 24 weeks by rhodopsin staining MEGF1, OFD1, TUBGCP2, TUBGCP3, TUBGCP4, CEP290(MS) BB
ARL6/BBS3 [155] Medium-slow retinal degeneration; hydrocephalus BBS1, ARL6IP1, ARL6IP5, ARL6IP4, ARL6IP6 BB
BBS1 [87, 156] Slow degeneration (3 to 4 rows of ONL nuclei at 6 months); CC present but disrupted OS BBS9, EEF1A1, ALDOB, ARL6/BBS3, PCM1 BB
BBS2 [157, 158] Slow degeneration – half ONL at 5 months; almost no ONL nuclei by 10 months. OS have typical indistinct, wavy pattern EEF1A1, ALDOB, BBS7, BBS9 BB
BBS4 [156, 159161] Intermediate rate of retinal degeneration; 2/3 of ONL remaining at 6 weeks; all PR lost by an unspecified adult age PCM1, ALDOB, DCTN1, EEF1A1, EPAS1 BB
TTC8/BBS8 [162] Slow degeneration – ONL half-thickness in the ‘adult’. OS maybe longer than wild-type BBS9, PCM1, BBS4, BBS1, BBS2 BB
MKKS/BBS6 [74, 163] Medium-slow degeneration; bulging, disorganized OS CEP290, PTN, STK16, TGIF1, ICA1 BB and proximal rootlet
RAB8A [164] Retinal phenotype has not been examined or published RPGR, RABIF, BAG6, OCRL, RAB10, PQBP1 BB
TRIM32/BBS11 [165] Retinal phenotype has not been examined or published ATXN1, UBE2N, SFN, UBQLN4, UBE2V1 N/A
  1. BB, basal body; CC/TZ, connecting cilium/transition zone; ONL, outer nuclear layer; OS/IS, outer segments/inner segments; P, postnatal day; PR, photoreceptors. aSelection criteria for inclusion in Table 2: ciliopathy-related (even if no human disease has yet been described); and interaction with Rpgr or Cep290; and/or associated with retinal degeneration.
  2. bData in this column are taken primarily from entries in Genes in bold are CEP290 and/or RPGR interactors.