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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

[132–136]

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, 143–145]

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

[151–154]

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, 159–161]

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 genecards.org. Genes in bold are CEP290 and/or RPGR interactors.
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