Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
Leber congenital amaurosis 5 (human)
Synonyms:
5730406O13Rik,  ORF64,  4930431B11Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Lca5 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Lca5 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormality of the optic disc ORPHA:65
Severe Early-Childhood-Onset Retinal Dystrophy
Abnormality of retinal pigmentation, Abnormal macular morphology, Optic disc drusen, Attenuation ... ORPHA:364055
Leber Congenital Amaurosis 5
OMIM:604537

The table below shows human diseases predicted to be associated to Lca5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinitis Pigmentosa 36
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... OMIM:610599
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:1852
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Bardet-Biedl Syndrome 13
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615990
Macular Dystrophy, Retinal, 2
Retinal pigment epithelial atrophy, Perifoveal ring of hyperautofluorescence, Granular macular ap... OMIM:608051
Retinitis Pigmentosa 39
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613809
Persistent Placoid Maculopathy
Abnormal macular morphology, Retinal pigment epithelial mottling, Choroidal neovascularization, H... ORPHA:97341
Retinopathy, Pericentral Pigmentary, Dominant
Retinal atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal dystrophy,... OMIM:180210
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Central Areolar Choroidal Dystrophy
Macular atrophy, Perifoveal ring of hyperautofluorescence, Foveal photoreceptor outer segment los... ORPHA:75377
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Liberfarb Syndrome
Optic disc pallor, Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, ... OMIM:618889
Stargardt Disease
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Abnormal foveal morpholo... ORPHA:827
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Rod-cone dystrophy, Pigmentary retinopathy OMIM:615780
Nanophthalmos
Abnormal choroid morphology, Abnormality of retinal pigmentation ORPHA:35612
Retinitis Pigmentosa 30
Attenuation of retinal blood vessels, Chorioretinal atrophy, Optic atrophy, Bone spicule pigmenta... OMIM:607921
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Retinitis Pigmentosa 47
Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retinopathy OMIM:613758
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... OMIM:610359
Retinitis Pigmentosa 46
Attenuation of retinal blood vessels, Abnormality of retinal pigmentation, Rod-cone dystrophy, Op... OMIM:612572
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Ataxia-Tapetoretinal Degeneration Syndrome
Rod-cone dystrophy, Pigmentary retinopathy ORPHA:1178
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:609913
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2246
Retinitis Pigmentosa 54
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613428
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Retinopathy, Rod-cone dystrophy OMIM:551500
Retinitis Pigmentosa 61
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:614180
Progressive Bifocal Chorioretinal Atrophy
Macular atrophy, Pigmentary retinopathy, Chorioretinal dystrophy ORPHA:75373
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Cystoid macular edema, Retinal thinning, Hyperautofluore... OMIM:617123
Retinitis Pigmentosa 11
Macular atrophy, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluorescenc... OMIM:600138
Retinitis Pigmentosa 87 With Choroidal Involvement
Chorioretinal atrophy, Bone spicule pigmentation of the retina, Nummular pigmentation of the fund... OMIM:618697
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Vitreoretinopathy, Paravenous chorioretinal atrophy OMIM:172870
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy OMIM:614307
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Retinitis Pigmentosa 28
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor OMIM:606068
Bothnia Retinal Dystrophy
Pigmentary retinopathy, Retinitis, Retinal pigment epithelial mottling, Retinal pigment epithelia... ORPHA:85128
Retinitis Pigmentosa 7
Attenuation of retinal blood vessels, Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retin... OMIM:608133
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Retinopathy, Pigmentary retinopathy OMIM:610951
Cone-Rod Dystrophy 16
Macular atrophy, Beaten bronze macular sheen, Attenuation of retinal blood vessels, Cone/cone-rod... OMIM:614500
Retinitis Pigmentosa 37
Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:611131
Retinitis Pigmentosa 9
Macular atrophy, Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:180104
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:619007
Retinitis Pigmentosa 2
Chorioretinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:312600
Retinitis Pigmentosa 6
Chorioretinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:312612
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Chorioretinal dysplasia, R... OMIM:251270
Retinitis Pigmentosa 88
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:618826
Intellectual Developmental Disorder And Retinitis Pigmentosa
Macular degeneration, Peripapillary atrophy, Abnormal flash visual evoked potentials, Optic disc ... OMIM:618195
Retinitis Pigmentosa 4
Rod-cone dystrophy, Pigmentary retinopathy OMIM:613731
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... OMIM:304020
Retinitis Pigmentosa 19
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... OMIM:601718
Retinal Cone Dystrophy 4
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling OMIM:610478
Achromatopsia
Abnormal macular morphology, Absent foveal reflex, Attenuation of retinal blood vessels, Retinal ... ORPHA:49382
Central Retinal Vein Occlusion
Pigmentary retinopathy, Cystoid macular edema, Papilledema, Epiretinal membrane, Retinal vascular... ORPHA:411527
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal degeneration, Hyperautofluoresc... OMIM:618144
Microphthalmia, Isolated 5
Abnormality of skin pigmentation, Optic disc drusen, Rod-cone dystrophy, Retinal pigment epitheli... OMIM:611040
Canavan Disease
Abnormality of retinal pigmentation, Optic atrophy, Abnormality of visual evoked potentials ORPHA:141
Retinitis Pigmentosa 1
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:180100
Congenital Stationary Night Blindness
Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with... ORPHA:215
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation, Facial palsy ORPHA:2743
Leber Congenital Amaurosis 2
Pigmentary retinopathy, Fundus atrophy OMIM:204100
Ring Chromosome 14 Syndrome
Pigmentary retinopathy OMIM:616606
Oliver-Mcfarlane Syndrome
Central heterochromia, Pigmentary retinopathy, Retinal degeneration OMIM:275400
Diprosopus
Abnormality of retinal pigmentation ORPHA:1681
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy OMIM:619090
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... ORPHA:506353
Retinitis Pigmentosa 86
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:618613
Eem Syndrome
Abnormality of retinal pigmentation, Retinopathy, Macular dystrophy ORPHA:1897
Retinitis Pigmentosa 41
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the re... OMIM:612095
Cone-Rod Dystrophy 3
Pigmentary retinopathy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Bull's eye... OMIM:604116
Glutathione Synthetase Deficiency
Pigmentary retinopathy OMIM:266130
Familial Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Chorioretinal coloboma, Abnormality of retinal pigmentation, Macular coloboma ORPHA:2196
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, W... ORPHA:79435
Retinitis Pigmentosa 45
Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystrophy OMIM:613767
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Retinal dystrophy ORPHA:3156
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Spinocerebellar Ataxia 7
Optic atrophy, Macular degeneration, Pigmentary retinopathy OMIM:164500
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation ORPHA:480
Laurence-Moon Syndrome
Pigmentary retinopathy OMIM:245800
Retinitis Pigmentosa 83
Asteroid hyalosis, Attenuation of retinal blood vessels, Cystoid macular edema, Vitreous floaters... OMIM:618173
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy OMIM:264470
Retinitis Pigmentosa 49
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613756
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormality of the optic disc ORPHA:65
Morning Glory Disc Anomaly
Optic disc coloboma, Abnormality of retinal pigmentation, Retinal detachment ORPHA:35737
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Macular atrophy, Photoreceptor layer loss on macular OCT, Attenuation of retinal blood vessels, R... OMIM:145350
Retinitis Pigmentosa 43
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the re... OMIM:613810
Leber Congenital Amaurosis 1
Pigmentary retinopathy, Fundus atrophy OMIM:204000
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Cone-Rod Dystrophy 8
Abnormality of retinal pigmentation, Cone/cone-rod dystrophy, Abnormality of the optic nerve, Ret... OMIM:605549
Retinitis Pigmentosa 56
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy,... OMIM:613581
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
Sjögren-Larsson Syndrome
Generalized hyperpigmentation, Macular degeneration, Abnormality of retinal pigmentation, Retinop... ORPHA:816
Retinitis Pigmentosa 58
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613617
Cofs Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1466
Retinopathy, Pigmentary, And Mental Retardation
Pigmentary retinopathy OMIM:268050
Jalili Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1873
Joubert Syndrome 28
Pigmentary retinopathy, Optic disc pallor OMIM:617121
Retinitis Pigmentosa 25
Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmentation of the ret... OMIM:602772
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation ORPHA:397951
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Heterochromia iridis ORPHA:1390
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation ORPHA:1264
Retinitis Pigmentosa 51
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... OMIM:613464
Retinitis Pigmentosa 74
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Leber Congenital Amaurosis 15
Pigmentary retinopathy, Retinal degeneration, Retinopathy, Rod-cone dystrophy, Optic disc pallor OMIM:613843
Retinitis Pigmentosa 10
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Geographic atrophy, Optic disc pallor OMIM:180105
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Abnormal macular morphology, Hypopigmentation of hair, White... ORPHA:897
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation, Abnormality of visual evoked potentials ORPHA:96
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation ORPHA:1433
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Optic atrophy, Abnormal retinal vascular morphology ORPHA:791
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Abnormality of retinal pigmentation, Albinism, Freckling, Hypopigmentation... ORPHA:79434
Narp Syndrome
Rod-cone dystrophy, Retinal pigment epithelial mottling, Retinal arteriolar tortuosity, Optic dis... ORPHA:644
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Abnormality of retinal pigmentation, Freckling, Hypopigmentation of hair, ... ORPHA:79432
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation ORPHA:1259
Ramon Syndrome
Abnormality of retinal pigmentation ORPHA:3019
Bardet-Biedl Syndrome 3
Rod-cone dystrophy, Pigmentary retinopathy OMIM:600151
Oculocutaneous Albinism Type 1
Iris hypopigmentation, Generalized hypopigmentation of hair, White eyebrow, Abnormal morphology o... ORPHA:352731
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation ORPHA:2521
Retinitis Pigmentosa 14
Retinal arteriolar constriction, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Opt... OMIM:600132
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation ORPHA:122
Vitreoretinochoroidopathy
Retinal arteriolar occlusion, Pigmentary retinopathy, Abnormality of chorioretinal pigmentation, ... OMIM:193220
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Retinal detachment ORPHA:171844
Juvenile Paget Disease
Melanocytic nevus, Abnormality of retinal pigmentation, Optic atrophy ORPHA:2801
Retinitis Punctata Albescens
Macular atrophy, Retinal atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of re... ORPHA:52427
Enhanced S-Cone Syndrome
Retinoschisis, Macular edema, Vitreoretinopathy, Pigmentary retinopathy OMIM:268100
Severe Early-Childhood-Onset Retinal Dystrophy
Abnormality of retinal pigmentation, Abnormal macular morphology, Optic disc drusen, Attenuation ... ORPHA:364055
Cerebellar Ataxia-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1173
Cone-Rod Dystrophy 2
Retinal pigment epithelial atrophy, Chorioretinal atrophy, Cone/cone-rod dystrophy, Macular hyper... OMIM:120970
Jeune Syndrome
Abnormality of retinal pigmentation ORPHA:474
Optic Atrophy 8
Abnormality of pattern visual evoked potentials, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinal pigment epithelial mottling, Retinopathy OMIM:219900
Congenital Toxoplasmosis
Abnormality of retinal pigmentation ORPHA:858
Congenital Muscular Dystrophy With Intellectual Disability
Facial palsy, Pigmentary retinopathy ORPHA:370968
Acute Zonal Occult Outer Retinopathy
Vitritis, Pigmentary retinopathy, Retinal pigment epithelial mottling, Retinal pigment epithelial... ORPHA:284454
Leigh Syndrome With Leukodystrophy
Optic atrophy, Pigmentary retinopathy ORPHA:255241
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Abnormal chorioretinal morphology, Abnormality of retinal pigmentation, Chorioretinal atrophy, Re... ORPHA:5
Neonatal Adrenoleukodystrophy
Abnormality of retinal pigmentation, Optic atrophy ORPHA:44
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation ORPHA:3085
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Optic atrophy, Pigmentary retinopathy OMIM:252011
Autosomal Recessive Spastic Paraplegia Type 15
Yellow/white lesions of the retina, Pigmentary retinopathy, Retinal flecks ORPHA:100996
Lipodystrophy, Familial Partial, Type 7
Pigmentary retinopathy, Orthostatic hypotension OMIM:606721
Posterior Column Ataxia With Retinitis Pigmentosa
Decreased sensory nerve conduction velocity, Pigmentary retinopathy, Attenuation of retinal blood... OMIM:609033
Corpus Callosum Agenesis-Neuronopathy Syndrome
Abnormality of retinal pigmentation ORPHA:1496
Desmoid Tumor
Abnormality of retinal pigmentation ORPHA:873
Bardet-Biedl Syndrome 9
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:615986
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pigmentary retinopathy OMIM:619059
Neurocutaneous Melanocytosis
Chorioretinal coloboma, Abnormality of retinal pigmentation, Melanocytic nevus, Numerous congenit... ORPHA:2481
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Retinopathy ORPHA:578
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Pigmentary retinopathy ORPHA:329336
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Facial palsy, Pigmentary retinopathy OMIM:613156
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2518
Arthrogryposis, Distal, Type 5
Abnormality of retinal pigmentation OMIM:108145
Congenital Rubella Syndrome
Abnormality of retinal pigmentation ORPHA:290
Leigh Syndrome
Optic atrophy, Pigmentary retinopathy OMIM:256000
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Rod-cone dystrophy, Pigmentary retinopathy OMIM:268020
Autosomal Dominant Optic Atrophy Plus Syndrome
Abnormal retinal nerve fiber layer morphology, Temporal optic disc pallor, Absent brainstem audit... ORPHA:1215
Joubert Syndrome 3
Pigmentary retinopathy, Retinal dystrophy OMIM:608629
Micro Syndrome
Retinal coloboma, Abnormality of retinal pigmentation, Optic atrophy, Abnormality of visual evoke... ORPHA:2510
Classic Pantothenate Kinase-Associated Neurodegeneration
Rod-cone dystrophy, Pigmentary retinopathy, Optic disc pallor ORPHA:216866
Oculocutaneous Albinism Type 1A
Iris hypopigmentation, Freckling, Albinism, Hypopigmentation of hair, Ocular albinism, Abnormalit... ORPHA:79431
Vici Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Hypopigmentation of the skin, Abnormal macula... ORPHA:1493
Juvenile Neuronal Ceroid Lipofuscinosis
Pigmentary retinopathy, Optic disc pallor, Retinal degeneration ORPHA:79264
Severe Oculo-Renal-Cerebellar Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Abnormal retinal vascular morphology, Hypopig... ORPHA:2715
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Mottled pigmentation of photoexposed areas, Pigmentary retinopathy, Blotching pigmentation of the... OMIM:560000
Lowry-Wood Syndrome
Abnormality of retinal pigmentation ORPHA:1824
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Optic disc pallor OMIM:617523
Joubert Syndrome 8
Optic disc pallor, Pigmentary retinopathy OMIM:612291
Zika Virus Disease
Macular atrophy, Absent foveal reflex, Optic disc hypoplasia, Chorioretinal atrophy, Retinal pigm... ORPHA:448237
Refsum Disease
Abnormality of retinal pigmentation, Retinopathy ORPHA:773
Mulibrey Nanism
Pigmentary retinopathy OMIM:253250
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Pigmentary retinopathy, Abnormal sen... ORPHA:88628
Holoprosencephaly-Craniosynostosis Syndrome
Abnormality of retinal pigmentation ORPHA:2163
Multiple Sulfatase Deficiency
Abnormality of peripheral nerve conduction, Abnormality of retinal pigmentation, Optic atrophy ORPHA:585
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Nonarteritic anterior ischemic optic neuropathy, Abnormality of visual evoked potentials OMIM:125310
Wolfram Syndrome 1
Optic atrophy, Pigmentary retinopathy OMIM:222300
Xeroderma Pigmentosum, Complementation Group B
Freckling, Optic atrophy, Pigmentary retinopathy, Decreased nerve conduction velocity OMIM:610651
Cohen Syndrome
Bone spicule pigmentation of the retina, Bull's eye maculopathy, Optic atrophy, Chorioretinal dys... OMIM:216550
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Rod-cone dystrophy, Pigmentary retinopathy ORPHA:2235
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Melanocytic nevus, Abnormality of retinal pigmentation, Generalized hypopigmentation, Multiple ca... ORPHA:1969
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic atrophy, Abnormality of visual evoked potentials... OMIM:601152
Isolated Succinate-Coq Reductase Deficiency
Pigmentary retinopathy ORPHA:3208
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Abnormality of visual evoked potentials ORPHA:2971
Lowry-Wood Syndrome
Pigmentary retinopathy OMIM:226960
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Abnormality of visual evoked potentials, Decreased nerve con... OMIM:601455
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormality of visual evoked potentials, Abnormality of soma... ORPHA:320401
Aceruloplasminemia
Abnormality of retinal pigmentation, Macular degeneration, Retinal degeneration ORPHA:48818
Kearns-Sayre Syndrome
Pigmentary retinopathy OMIM:530000
Peroxisome Biogenesis Disorder 5A (Zellweger)
Brushfield spots, Optic nerve dysplasia, Pigmentary retinopathy OMIM:614866
Peroxisome Biogenesis Disorder 2A (Zellweger)
Brushfield spots, Optic nerve dysplasia, Pigmentary retinopathy OMIM:214110
Bardet-Biedl Syndrome
Pigmentary retinopathy ORPHA:110
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Abnormality of visual evoked potentials, Decreased nerve conduction velocity OMIM:256600
Mucopolysaccharidosis, Type Ii
Abnormality of retinal pigmentation, Papilledema OMIM:309900
Prolidase Deficiency
Abnormality of retinal pigmentation, White forelock ORPHA:742
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Optic atrophy, Pigmentary retinopathy OMIM:220110
Neuromuscular Oculoauditory Syndrome
Chorioretinal lacunae, Decreased amplitude of sensory action potentials, Retinal pigment epitheli... OMIM:618733
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Optic atrophy, Pigmentary retinopathy ORPHA:436271
Mitochondrial Trifunctional Protein Deficiency
Pigmentary retinopathy OMIM:609015
Hardikar Syndrome
Chorioretinal degeneration, Mottled pigmentation, Pigmentary retinopathy OMIM:612726
Maternal Uniparental Disomy Of Chromosome 4
Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy ORPHA:96180
Usher Syndrome
Abnormality of retinal pigmentation ORPHA:886
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Vitiligo, Perifoveal ring of hyperautofluorescence, Pigmentary retinopathy OMIM:240300
Coffin-Lowry Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:192
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Pigmentary retinopathy, Optic disc pallor ORPHA:502423
Pantothenate Kinase-Associated Neurodegeneration
Pigmentary retinopathy, Retinal flecks, Retinal degeneration, Optic atrophy, Bull's eye maculopat... ORPHA:157850
Myopathy, Mitochondrial, And Ataxia
Pigmentary retinopathy OMIM:617675
Achalasia-Addisonianism-Alacrima Syndrome
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Hyperpigmentation of the s... OMIM:231550
Cohen Syndrome
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Optic atrophy, Chorioretin... ORPHA:193
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Abnormality of visual evoked potentials, Optic disc pallor, Decreased nerve conduc... ORPHA:485421
Friedreich Ataxia
Decreased amplitude of sensory action potentials, Decreased sensory nerve conduction velocity, Ab... OMIM:229300
Mitochondrial Trifunctional Protein Deficiency
Pigmentary retinopathy ORPHA:746
Alstrom Syndrome
Cone/cone-rod dystrophy, Pigmentary retinopathy OMIM:203800
Classic Homocystinuria
Abnormality of retinal pigmentation, Optic atrophy, Retinal detachment ORPHA:394
Aicardi Syndrome
Abnormality of skin pigmentation, Chorioretinal coloboma, Abnormality of retinal pigmentation, Op... ORPHA:50
Autosomal Dominant Cerebellar Ataxia
Macular degeneration, Pigmentary retinopathy, Retinal degeneration ORPHA:99
Retinoblastoma
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Retinal calcificat... ORPHA:790
Werner Syndrome
Abnormality of retinal pigmentation, White forelock, Premature graying of hair ORPHA:902
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Abnormality of retinal pigmentation, Chorioretinal dysplasia, Retinal dystrophy, Abnormality of t... ORPHA:2526
Cockayne Syndrome A
Abnormality of skin pigmentation, Pigmentary retinopathy, Retinal pigment epithelial mottling, Ab... OMIM:216400
Cockayne Syndrome Type 1
Pigmentary retinopathy, Absent brainstem auditory responses, Abnormality of peripheral nerve cond... ORPHA:90321
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy ORPHA:71212
Chromosome 6Pter-P24 Deletion Syndrome
Pigmentary retinopathy OMIM:612582
Peroxisome Biogenesis Disorder 1A (Zellweger)
Brushfield spots, Pigmentary retinopathy, Optic disc pallor OMIM:214100
Ramon Syndrome
Optic disc pallor, Pigmentary retinopathy OMIM:266270
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormal motor nerve conduction velocity, Abnormality of retinal pigmentation, Abnormality of per... ORPHA:466768
Chédiak-Higashi Syndrome
Iris hypopigmentation, Abnormality of retinal pigmentation, Hypopigmentation of hair, Large clump... ORPHA:167
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Pigmentary retinopathy OMIM:277400
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Optic atrophy ORPHA:505248
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Pigmentary retinopathy, Retinal degeneration, Abnormality of macular pigmentation, Macular colobo... ORPHA:79282
Cockayne Syndrome B
Abnormality of skin pigmentation, Pigmentary retinopathy, Abnormal auditory evoked potentials, De... OMIM:133540
Mucopolysaccharidosis Type 2
Abnormality of retinal pigmentation, Papilledema, Abnormal foveal morphology, Retinal degeneratio... ORPHA:580
Abetalipoproteinemia
Hypopigmentation of the fundus, Abnormality of retinal pigmentation, Rod-cone dystrophy ORPHA:14
Trisomy 18
Abnormality of retinal pigmentation ORPHA:3380
Khan-Khan-Katsanis Syndrome
Pigmentary retinopathy OMIM:618460
Mitochondrial Dna-Associated Leigh Syndrome
Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy ORPHA:255210
Microphthalmia With Linear Skin Defects Syndrome
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Chorioretinal dysplasia, A... ORPHA:2556
Cockayne Syndrome
Abnormality of retinal pigmentation, Retinal atrophy, Pigmentary retinopathy, Retinal degeneratio... ORPHA:191
Melas
Vitiligo, Optic atrophy, Pigmentary retinopathy ORPHA:550
Cartilage-Hair Hypoplasia
Abnormality of retinal pigmentation, Aganglionic megacolon ORPHA:175
Neurofibromatosis Type 1
Chorioretinal coloboma, Abnormality of retinal pigmentation, Freckling, Heterochromia iridis, Mel... ORPHA:636
Mucopolysaccharidosis Type 2, Severe Form
Abnormality of retinal pigmentation, Abnormal foveal morphology, Papilledema, Optic atrophy, Reti... ORPHA:217085
Neurodegeneration With Brain Iron Accumulation 1
Optic atrophy, Hyperpigmentation of the skin, Pigmentary retinopathy, Retinal degeneration OMIM:234200
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormality of retinal pigmentation, Abnormal foveal morphology, Papilledema, Optic atrophy, Reti... ORPHA:217093
Linear Skin Defects With Multiple Congenital Anomalies 1
Pigmentary retinopathy OMIM:309801
Infantile Nephropathic Cystinosis
Pigmentary retinopathy ORPHA:411629
Mucopolysaccharidosis Type 3
Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy, Retinal degeneration ORPHA:581
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cone/cone-rod dystrophy, Optic atrophy, Optic disc pallor, Pigmentary retinopathy ORPHA:404454
Cancer-Associated Retinopathy
Vitritis, Retinal atrophy, Retinal pigment epithelial atrophy, Granular macular appearance, Fovea... ORPHA:71505
Cystinosis, Nephropathic
Hypopigmentation of hair, Pigmentary retinopathy, Retinal pigment epithelial mottling, Retinopath... OMIM:219800
Spondylocarpotarsal Synostosis Syndrome
Abnormality of retinal pigmentation OMIM:272460
Tubulointerstitial Nephritis And Uveitis Syndrome
Abnormality of retinal pigmentation, Cystoid macular edema, Papilledema, Choroidal neovasculariza... ORPHA:91500
Proteus Syndrome
Abnormality of skin pigmentation, Chorioretinal coloboma, Abnormality of retinal pigmentation, Ce... ORPHA:744
Alagille Syndrome 1
Chorioretinal atrophy, Pigmentary retinopathy OMIM:118450
Pearson Syndrome
Hyperpigmentation of the skin, Cafe-au-lait spot, Pigmentary retinopathy ORPHA:699
Atypical Werner Syndrome
Abnormality of retinal pigmentation, Premature graying of hair, Patchy hypo- and hyperpigmentatio... ORPHA:79474
Wiedemann-Rautenstrauch Syndrome
Optic disc hypoplasia, Optic atrophy, Pigmentary retinopathy ORPHA:3455
Leber Congenital Amaurosis 5
OMIM:604537

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Lca5

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Lca5.

No publications found that use IMPC mice or data for Lca5.

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MGI Allele Allele Type Produced
Lca5tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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