Table 1.
Gene | Mutant / Morpholino |
Ocular Phenotype | References | Associated Human Ocular Disease* |
OMIM |
---|---|---|---|---|---|
Coloboma | |||||
adenomatous polyposis coli (apc) | Mutant | Coloboma; defects in optic vesicle patterning and optic fissure closure | [98] | Familial Adenomatous Polyposis | 175100 |
bcl6 co-repressor (bcor) | Morpholino | Coloboma; microphthalmia | [246] | Oculofaciocardiodental and Lenz microphthalmia | 300485 |
cadherin 2 neuronal (cdh2, glass onion) | Mutant | Coloboma; optic fissure closure defect | [247] | — | — |
laminin,β1 (lamb1, lamb1hi1113bTg), laminin,γ1 (lamc1, lamc1hi3890Tg) | Mutant | Coloboma; basement membrane defects | [105] | — | — |
paired box gene 2a (pax2a, no isthmus) | Mutant | Coloboma | [81] | Renal-coloboma Syndrome | 167409 |
patched1 (ptc1, blowout) | Mutant | Coloboma; defects in optic stalk morphogenesis | [84, 85] | — | — |
thioredoxin-related transmembrane prtein 3 (tmx3) | Morpholino | Microphthalmia; coloboma | [248] | Microphthalmia and coloboma | — |
transcription factor ap2 alpha (tfap2a) | Morpholino | Coloboma | [249] | Branchio-Oculo-Facial Syndrome | 107580 |
zinc family member 2a (zic2a) | Morpholino | Coloboma; defects in optic stalk morphogenesis and optic vesicle patterning | [88] | — | — |
zinc finger proteins 703 and 503 (znf703,503, also known as nlz1 and nlz2) | Morpholino | Coloboma; defects in optic vesicle patterning and optic fissure closure | [79] | — | — |
Photoreceptors | |||||
cone transducin α (tcα, no optokinetic response f) | Mutant | Reduced sensitivity to light by cones | [250] | — | — |
crumbs homolog 2 (crb2, oko meduzy) | Mutant | Photoreceptor defects | [119] | — | — |
crumbs homolog 2, like (crb2l) | Morpholino | Photoreceptor defects | [119] | — | — |
dihydrolipoamide S-acetyltransferase (pdhe2, no optokinetic response a) | Mutant | Blindness; photoreceptor synaptic transmission defects | [133, 136] | Pyruvate Dehydrogenase Deficiency | — |
dynactin 1a (dctn1a, mikre oko) | Mutant | Retinal degeneration | [123, 251] | — | — |
dynactin 2 (p50), (dctn2, ale oko) | Mutant | Retinal degeneration | [120] | — | — |
erythrocyte membrane protein band 4.1-like 5 (epb41l5, mosaic eyes) | Mutant | Photoreceptor defects | [111, 112] | — | |
fleer (flr) | Mutant | Rod outer-segment defects | [129, 252] | — | — |
intraflagellar transport proteins, 57, 80, 88, and 172 (ift57hi3417Tg, oval(ift88), ift172hi2211Tg) | Mutants (ift57, 88, 172), Morpholino (ift80) | Outer segment defects; retinal degeneration | [104, 126, 127, 253] | — | — |
membrane protein, palmitoylated 5a (mpp5a, nagie oko) | Mutant | Disrupted RPE; retinal laminaiton defects; photoreceptor defects | [254, 255] | — | — |
Novel protein (partial optokinetic response b) | Mutant | Cone degeneration | [256, 257] | — | — |
phosphodiesterase 6 alpha (pde6α, eclipse) | Mutant | Cone degeneration | [258] | — | — |
protein kinase C iota (prkci, heart and soul) | Mutant | Photoreceptor morphogenesis defects | [259] | — | — |
protocadherin 15b (pcdh15b) | Morpholino | Photoreceptor defects; visual function defects | [260] | Usher Syndrome | 605514 |
TNF receptor-associated factor 3 interacting protein (traf3ip, elipsa) | Mutant | Photoreceptor defects; visual defects | [128, 129] | — | — |
Unknown (brudas) | Mutant | Photoreceptor defects | [129] | — | — |
Unknown (niezerka) | Mutant | Photoreceptor defects | [129, 261] | — | — |
Unknown (nightblindness a,b,e,f,g) | Mutant | Visual function defects; retinal degeneration (nba, nbe, nbf) | [137, 138, 141] | — | — |
Other Retinal Phenotypes | |||||
patched2 (ptc2, leprechaun) | Mutant | Müller glial reactivity; vitreo-retinal abnormalities | [165] | Basal Cell Naevus Syndrome (BCNS) | 601309 |
phosphatase and tensin homolog b (ptenb) | Mutant | Ocular tumors | [262] | — | — |
RPE | |||||
choroideremia (chm) | Mutant | Retinal degeneration; RPE defects | [145, 146] | Choroideremia | 300390 |
protein kinase C iota (prkci, heart and soul) | Mutant | RPE morphogenesis defects | [259] | — | — |
silver homolog a (silva, fading vision) | Mutant | RPE defects; photoreceptor defects | [158] | — | — |
vacuolar protein sorting 18p (vps18, vps18phi2499aTg) | Mutant | Melanosome maturation defects; reduced visual function | [149] | — | — |
vacuolar protein sorting 39 homolog (vps39, leberknodel) | Mutant | RPE vesicle traffic defects; PR defects | [148] | — | — |
v-ATPase complex (multiple genes) | Mutants | Melanosome defects; photoreceptor outer segment defects; | [153] | — | — |
Unknown (bleached) | Mutant | Pigmentation defect; blindness; retinal degeneration | [155] | — | — |
Unknown (fade out) | Mutant | RPE defects; photoreceptor defects | [156] | — | — |
Unknown (gantenbein) | Mutant | Cone dystrophy; RPE degeneration | [154] | — | — |
Hyaloid Vasculature | |||||
forkhead box C1a (foxc1a) + forkhead box C1b (foxc1b) | Morpholino (coinjection) | reduced hyaloid basement membrane integrity | [186] | Axenfield-Reiger Syndrome, glaucoma | 601090 |
heparan sulfate 6-O-sulfotransferase 2 (hs6st2) | Morpholino | aberrant patterning of hyaloid vasculature | [185] | — | — |
laminin, α1 (lama1) | Morpholino | hyaloid vasculature dysmorphogenesis | [209] | — | — |
laminin, α1 (lama1, bashful) | Mutant | no hyaloid vasculature | [185] | — | — |
mab-21-like 2 (mab21l2) | Morpholino | reduced hyaloid vasculature | [185] | — | — |
microfibrillar-associated protein 2 (mfap2) | Morpholino | reduced hyaloid vasculature branching | [185] | — | — |
plexin D1 (plxnd1, out of bounds) | Mutant | aberrant patterning of hyaloid vasculature | [185] | — | — |
syndecan 2 (sdc2) | Morpholino | no vasculature on the lens | [185] | — | — |
Unknown (fused eyes) | Mutant | no hyaloid vasculature | [185] | — | — |
Unknown (margin affected) | Mutant | reduced, then absent hyaloid vasculature | [185] | — | — |
Unknown (platinum) | Mutant | premature detachment of hyaloid vasculature from lens | [185] | — | — |
Lens | |||||
cadherin 4, retinal (cdh4) | Morpholino | Small opaque lens | [263] | — | — |
CDP-diacylglycerol-inositol 3-phosphatidyltransferase (cdipt, lens opaque) | Mutant | Lens cell hyperproliferation; lens degeneration | [264–266] | — | — |
choroideremia (chm) | Mutant | Small opaque lens | [217] | Choroideremia | 300390 |
coatomer protein complex, subunit ζ1 (copz1, copz1hi528Tg) | Mutant | Cortical lens defects | [104] | — | — |
connexin 48.5 (cx48.5) | Morpholino | Cataracts and small lens | [267] | Cataracts | 121015 |
decapentaplegic and Vg-related 1 (dvr1) | Morpholino | Retention of nuclei in lens fibers | [268] | — | — |
fibroblast growth factor 19 (fgf19) | Morpholino | Defective lens cell survival and differentiation | [240, 269] | — | — |
forkhead box E3 (foxe3) | Morpholino | Lens dysmorphogenesis; epithelial cell hyperproliferation; defective fiber differentiation | [202, 203] | Congenital primary aphakia, Peter's anomaly, Cataracts | 601094 |
growth differentiation factor 6a (gdf6a) | Morpholino | Cortical lens defects; defective lens gene expression | [270, 271] | Microphthalmia | 601147 |
heat shock cognate 70-kd protein (hsp70) | Morpholino | Immature lens | [272] | — | — |
heat shock transcription factor 1 (hsf1) | Morpholino | Small lens | [273] | — | — |
integrator complex subunit 7 (ints7, ints7hi1548Tg, ints7hi3649Tg) | Mutant | Devere lens disorganization | [104] | — | — |
laminin, α1 (lama1) | Morpholino | Lens degeneration | [210] | — | — |
laminin, α1 (lama1, bashful) | Mutant | Lens degeneration, focal corneal dysplasia | [209, 215, 216, 219, 264] | — | — |
laminin, β1 (lamb1, grumpy, lamb1hi1113bTg) | Mutant | Cortical lens defects; lens dysplasia | [105, 217, 219] | — | — |
laminin, γ1 (lamc1, sleepy, lamc1hi3890Tg) | Mutant | Cortical lens defects; lens dysplasia and degeneration | [104, 105, 219] | — | — |
lengsin, lens protein with glutamine synthetase domain (lgsn) | Morpholino | Lens dysmorphogenesis; lens fiber defects | [274] | — | — |
mab-21-like 2 (mab21l2) | Morpholino | Lens cell death | [275] | — | — |
paired box gene 2a (pax2a, no isthmus) | Mutant | Small opaque lens by 6 dpf | [217] | Coloboma | 167409 |
paired box gene 6b (pax6b) | Morpholino | Variable phenotype: small lens to absent lens | [276] | Peter's anomaly, Aniridia | 607108 |
paired box gene 6b (pax6b, sunrise) | Mutant | Small lens | [277, 278] | Peter's anomaly, Aniridia | 607108 |
paired-like homeodomain transcription factor 3 (pitx3) | Morpholino | Lens dysmorphogenesis: disordered epithelial cells, defective fiber differentiation, fiber cell death | [200–202] | Cataracts, Anterior segment dysgenesis | 602669 |
patched 1 (ptc1) | Morpholino | Small, dysplastic lens | [84] | — | — |
retinal homeobox gene 3 (rx3, chokh) | Mutant | Small lens, no retina | [279] | Anophthalmia/ Microphthalmia | 601881 |
RNA binding motif 42 (rbm42, rbm42hi2735ATg) | Mutant | Cortical lens defects | [104] | — | — |
syndecan 2 (sdc2) | Morpholino | Small lens | [185] | — | — |
ubiquitin-like, containing PHD and RING finger domains, 1 (uhrf1, uhrf1hi272Tg, uhrf1hi3020Tg) | Mutant | Lens disorganization and degeneration | [104] | — | — |
WD repeat domain 36 (wdr36, wdr36hi3630aTg) | Mutant | Thickening of lens epithelium; cortical lens defects; lens degeneration | [280] | Primary open-angle glaucoma | 609669 |
Unknown (bumper) | Mutant | Lens epithelial cell hyperproliferation, lens fiber degeneration | [135, 278, 281] | — | — |
Unknown (chiorny) | Mutant | Small lens | [282] | — | — |
Unknown (cloche) | Mutant | Opaque lens with retained nuclei | [205] | — | — |
Unknown (disrupted lens) | Mutant | Disorganized lens fibers | [215, 264] | — | — |
Unknown (dou yan) | Mutant | Small lens | [283] | — | — |
Unknown (korinthe) | Mutant | Lens degeneration | [278] | — | — |
Unknown (margin affected) | Mutant | Small lens | [185] | — | — |
Unknown (platinum) | Mutant | Small lens | [185] | — | — |
Unknown (rosine) | Mutant | Lens degeneration | [278] | — | — |
Unknown (yol) | Mutant | Lens degeneration | [164] | — | — |
Online Mendelian Inheritance in Man (OMIM) entries are listed if the disrupted zebrafish gene is orthologous to a human gene associated with an ocular disease.