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:
4930431B11Rik,  ORF64,  5730406O13Rik

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
Optic disc drusen, Retinal pigment epithelial atrophy, Abnormal macular morphology, Retinal degen... 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
Rod-cone dystrophy, Optic disc pallor, Macular degeneration, Bone spicule pigmentation of the ret... OMIM:610599
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Retinal dysplasia, Abnormal retinal vascular morphology ORPHA:1852
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Bardet-Biedl Syndrome 13
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels OMIM:615990
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Macular Dystrophy, Retinal, 2
Perifoveal ring of hyperautofluorescence, Retinal pigment epithelial atrophy, Macular dystrophy, ... OMIM:608051
Choroideremia
Hypopigmentation of the fundus, Chorioretinal degeneration, Pigmentary retinopathy, Retinal pigme... OMIM:303100
Retinitis Pigmentosa 39
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels OMIM:613809
Persistent Placoid Maculopathy
Choroidal neovascularization, Retinal pigment epithelial mottling, Abnormal macular morphology, H... ORPHA:97341
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Retinal atrophy, Pigmentary retinopathy, Retinal dystrophy, Bone spicule pigmentatio... OMIM:180210
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Homocarnosinosis
Abnormality of retinal pigmentation, Abnormality of skin pigmentation OMIM:236130
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal pigment epithelial atrophy, Subretinal deposits, Abnormal fundus autofluorescence imaging... ORPHA:59181
Central Areolar Choroidal Dystrophy
Hypopigmentation of the fundus, Full-thickness macular hole, Retinal pigment epithelial mottling,... ORPHA:75377
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Liberfarb Syndrome
Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Optic disc pallor, ... OMIM:618889
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormality of visual evoked potentials, Ap... ORPHA:827
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Retinitis Pigmentosa 30
Optic atrophy, Rod-cone dystrophy, Chorioretinal atrophy, Bone spicule pigmentation of the retina... OMIM:607921
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Pigmentary retinopathy, Rod-cone dystrophy OMIM:615780
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Familial Drusen
Macular hyperpigmentation, Subretinal fluid, Abnormality of retinal pigmentation, Reticular pigme... ORPHA:75376
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Retinitis Pigmentosa 47
Rod-cone dystrophy, Chorioretinal atrophy, Pigmentary retinopathy OMIM:613758
Retinitis Pigmentosa 33
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentat... OMIM:610359
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Ataxia-Tapetoretinal Degeneration Syndrome
Rod-cone dystrophy, Pigmentary retinopathy ORPHA:1178
Retinitis Pigmentosa 32
Retinal degeneration, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc pa... OMIM:609913
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2246
Retinitis Pigmentosa 54
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Fundus atrophy, Attenuation of retin... OMIM:613428
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Retinitis Pigmentosa 61
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels OMIM:614180
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy OMIM:551500
Retinitis Pigmentosa 40
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels OMIM:613801
Progressive Bifocal Chorioretinal Atrophy
Chorioretinal dystrophy, Macular atrophy, Pigmentary retinopathy ORPHA:75373
Retinitis Pigmentosa 76
Retinal thinning, Peripapillary atrophy, Cystoid macular edema, Hyperautofluorescent macular lesi... OMIM:617123
Retinitis Pigmentosa 11
Rod-cone dystrophy, Macular edema, Optic disc pallor, Macular degeneration, Macular atrophy, Peri... OMIM:600138
Pigmented Paravenous Chorioretinal Atrophy
Vitreoretinopathy, Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy OMIM:172870
Retinitis Pigmentosa 17
Rod-cone dystrophy, Bone spicule pigmentation of the retina OMIM:600852
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy OMIM:614307
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Bothnia Retinal Dystrophy
Retinal pigment epithelial atrophy, Retinal degeneration, Retinitis, Pigmentary retinopathy, Reti... ORPHA:85128
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... OMIM:618697
Retinitis Pigmentosa 7
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Pigmentary retin... OMIM:608133
Retinitis Pigmentosa 28
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor OMIM:606068
Cone-Rod Dystrophy 16
Beaten bronze macular sheen, Rod-cone dystrophy, Optic disc pallor, Macular atrophy, Cone/cone-ro... OMIM:614500
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Optic atrophy, Pigmentary retinopathy OMIM:610951
Retinitis Pigmentosa 37
Rod-cone dystrophy, Cystoid macular degeneration, Pigmentary retinopathy OMIM:611131
Retinitis Pigmentosa 90
Retinal pigment epithelial atrophy, Cystoid macular edema, Hyperautofluorescent retinal lesion, B... OMIM:619007
Retinitis Pigmentosa 9
Rod-cone dystrophy, Macular edema, Bone spicule pigmentation of the retina, Macular atrophy OMIM:180104
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of skin pigmentation, Chorioretinal dysplasia, Abnormality of retinal pigmentation, R... OMIM:251270
Retinitis Pigmentosa 6
Pigmentary retinopathy, Chorioretinal degeneration, Rod-cone dystrophy OMIM:312612
Retinitis Pigmentosa 88
Cystoid macular edema, Optic disc pallor, Macular degeneration, Bone spicule pigmentation of the ... OMIM:618826
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Optic disc pallor, Macular degeneration, Abnormal flash visual evoked pote... 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
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentat... OMIM:601718
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Retinal thinning, Cystoid macular edema, Subretinal deposits,... ORPHA:41751
Spinocerebellar Ataxia, Autosomal Recessive 29
Retinal pigment epithelial mottling, Optic disc pallor OMIM:619389
Achromatopsia
Absent foveal reflex, Retinal pigment epithelial atrophy, Abnormal macular morphology, Inner reti... ORPHA:49382
Retinal Cone Dystrophy 4
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy OMIM:610478
Central Retinal Vein Occlusion
Cystoid macular edema, Retinal neovascularization, Papilledema, Intraretinal hemorrhage, Pigmenta... ORPHA:411527
Microphthalmia, Isolated 5
Optic disc drusen, Retinal pigment epithelial atrophy, Abnormality of skin pigmentation, Cystoid ... OMIM:611040
Usher Syndrome, Type Iv
Retinal atrophy, Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Re... OMIM:618144
Canavan Disease
Abnormality of retinal pigmentation, Optic atrophy, Abnormality of visual evoked potentials ORPHA:141
Congenital Stationary Night Blindness
Abnormality of retinal pigmentation, Congenital stationary night blindness with abnormal fundus, ... ORPHA:215
Retinitis Pigmentosa 1
Rod-cone dystrophy, Bone spicule pigmentation of the retina OMIM:180100
Leber Congenital Amaurosis 2
Absent foveal reflex, Fundus atrophy, Pigmentary retinopathy, Optic disc pallor, Attenuation of r... OMIM:204100
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation, Facial palsy ORPHA:2743
Retinitis Pigmentosa 92
Pigmentary retinopathy OMIM:619614
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Retinal degeneration, Central heterochromia OMIM:275400
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy OMIM:619090
Ring Chromosome 14 Syndrome
Pigmentary retinopathy OMIM:616606
Retinitis Pigmentosa 86
Retinal pigment epithelial atrophy, Cystoid macular edema, Hyperautofluorescent retinal lesion, O... OMIM:618613
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Hyporeflective spaces on macular OCT, Central retinal vessel... ORPHA:506353
Morning Glory Disc Anomaly
Abnormality of retinal pigmentation, Optic disc coloboma, Retinal detachment ORPHA:35737
Eem Syndrome
Abnormality of retinal pigmentation, Retinopathy, Macular dystrophy ORPHA:1897
Diprosopus
Abnormality of retinal pigmentation ORPHA:1681
Retinitis Pigmentosa 41
Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor, Macular degeneration, Bone spicule... OMIM:612095
Cone-Rod Dystrophy 3
Bull's eye maculopathy, Pigmentary retinopathy, Optic disc pallor, Cone/cone-rod dystrophy, Atten... OMIM:604116
Glutathione Synthetase Deficiency
Pigmentary retinopathy OMIM:266130
Retinitis Pigmentosa 46
Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vessels, Pigmentary retinopathy OMIM:612572
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Abnormality of retinal pigmentation, Chorioretinal coloboma, Macular coloboma ORPHA:2196
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Oculocutaneous Albinism Type 4
Hypopigmentation of hair, Hypoplasia of the fovea, Abnormality of retinal pigmentation, Optic ner... ORPHA:79435
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Retinal dystrophy ORPHA:3156
Laurence-Moon Syndrome
Pigmentary retinopathy OMIM:245800
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation ORPHA:480
Spinocerebellar Ataxia 7
Pigmentary retinopathy, Macular degeneration, Optic atrophy OMIM:164500
Retinitis Pigmentosa 45
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Macular degeneration OMIM:613767
Retinitis Pigmentosa 83
Asteroid hyalosis, Cystoid macular edema, Rod-cone dystrophy, Bone spicule pigmentation of the re... OMIM:618173
Leber Congenital Amaurosis 1
Optic disc drusen, Pigmentary retinopathy, Fundus atrophy, Attenuation of retinal blood vessels OMIM:204000
Retinitis Pigmentosa 2
Bull's eye maculopathy, Fundus atrophy, Chorioretinal degeneration, Rod-cone dystrophy, Pigmentar... OMIM:312600
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Peroxisomal Acyl-Coa Oxidase Deficiency
Pigmentary retinopathy, Optic atrophy, Rod-cone dystrophy OMIM:264470
Retinitis Pigmentosa 49
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of re... OMIM:613756
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormality of the optic disc ORPHA:65
Retinitis Pigmentosa 56
Retinal pigment epithelial atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor... OMIM:613581
Retinitis Pigmentosa 43
Rod-cone dystrophy, Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the r... OMIM:613810
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Attenuation of retinal blood vessels, Retinal thinning, Peripheral retinal atrophy, Retinal pigme... OMIM:145350
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
Sjögren-Larsson Syndrome
Abnormality of retinal pigmentation, Retinopathy, Generalized hyperpigmentation, Macular degenera... ORPHA:816
Cone-Rod Dystrophy 8
Abnormality of the optic nerve, Abnormality of retinal pigmentation, Retinal arteriolar constrict... OMIM:605549
Jalili Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1873
Cofs Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1466
Retinopathy, Pigmentary, And Mental Retardation
Pigmentary retinopathy OMIM:268050
Retinitis Pigmentosa 25
Rod-cone dystrophy, Optic disc pallor, Chorioretinal atrophy, Bone spicule pigmentation of the re... OMIM:602772
Retinitis Pigmentosa 51
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of... OMIM:613464
Retinitis Pigmentosa 58
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of re... OMIM:613617
Joubert Syndrome 28
Pigmentary retinopathy, Optic disc pallor OMIM:617121
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation ORPHA:397951
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormality of retinal pigmentation, Heterochromia iridis, Abnormal retinal vascular morphology ORPHA:1390
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation ORPHA:1264
Retinitis Pigmentosa 10
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor, Geographic atrophy OMIM:180105
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation ORPHA:1259
Waardenburg-Shah Syndrome
White eyebrow, Premature graying of hair, Hypopigmentation of hair, Abnormal macular morphology, ... ORPHA:897
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation, Abnormality of visual evoked potentials ORPHA:96
Leber Congenital Amaurosis 15
Retinopathy, Retinal degeneration, Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor OMIM:613843
Retinitis Pigmentosa 74
Pigmentary retinopathy, Optic disc pallor, Rod-cone dystrophy OMIM:616562
Bardet-Biedl Syndrome 3
Rod-cone dystrophy, Pigmentary retinopathy OMIM:600151
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation ORPHA:1433
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Optic atrophy, Abnormal retinal vascular morphology ORPHA:791
Narp Syndrome
Retinal pigment epithelial mottling, Optic disc pallor, Retinal arteriolar tortuosity, Rod-cone d... ORPHA:644
Oculocutaneous Albinism Type 1
White eyebrow, Hypoplasia of the fovea, Optic nerve misrouting, Abnormality of visual evoked pote... ORPHA:352731
Oculocutaneous Albinism Type 1B
Hypopigmentation of hair, Hypoplasia of the fovea, Abnormality of the optic nerve, Abnormality of... ORPHA:79434
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation ORPHA:2521
Oculocutaneous Albinism Type 2
Macular hypopigmentation, White eyebrow, Hypopigmentation of hair, Heterochromia iridis, Hypoplas... ORPHA:79432
Retinitis Pigmentosa 14
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor, Retinal arteriola... OMIM:600132
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation ORPHA:122
Ramon Syndrome
Abnormality of retinal pigmentation ORPHA:3019
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Retinal detachment ORPHA:171844
Vitreoretinochoroidopathy
Abnormality of chorioretinal pigmentation, Retinal detachment, Retinal neovascularization, Retina... OMIM:193220
Enhanced S-Cone Syndrome
Pigmentary retinopathy, Vitreoretinopathy, Macular edema, Retinoschisis OMIM:268100
Severe Early-Childhood-Onset Retinal Dystrophy
Optic disc drusen, Retinal pigment epithelial atrophy, Abnormal macular morphology, Retinal degen... ORPHA:364055
Juvenile Paget Disease
Abnormality of retinal pigmentation, Melanocytic nevus, Optic atrophy ORPHA:2801
Retinitis Punctata Albescens
Absent foveal reflex, Cystoid macular edema, Retinal atrophy, Pigmentary retinopathy, Retinal pig... ORPHA:52427
Retinitis Pigmentosa 66
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor OMIM:615233
Optic Atrophy 8
Abnormal auditory evoked potentials, Prolonged somatosensory evoked potentials, Optic atrophy, Ab... OMIM:616648
Cerebellar Ataxia-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1173
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinopathy, Retinal pigment epithelial mottling OMIM:219900
Cone-Rod Dystrophy 2
Retinal pigment epithelial atrophy, Chorioretinal atrophy, Cone/cone-rod dystrophy, Bone spicule ... OMIM:120970
Congenital Toxoplasmosis
Abnormality of retinal pigmentation ORPHA:858
Oculopharyngodistal Myopathy 3
Pigmentary retinopathy OMIM:619473
Jeune Syndrome
Abnormality of retinal pigmentation ORPHA:474
Congenital Muscular Dystrophy With Intellectual Disability
Pigmentary retinopathy, Facial palsy ORPHA:370968
Leigh Syndrome With Leukodystrophy
Pigmentary retinopathy, Optic atrophy ORPHA:255241
Acute Zonal Occult Outer Retinopathy
Vitritis, Retinal pigment epithelial atrophy, Pigmentary retinopathy, Retinal pigment epithelial ... ORPHA:284454
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Decreased sensory nerve conduction velocity, Pigmentary retinopathy, Rod-cone dyst... OMIM:609033
Neonatal Adrenoleukodystrophy
Abnormality of retinal pigmentation, Optic atrophy ORPHA:44
Autosomal Recessive Spastic Paraplegia Type 15
Yellow/white lesions of the retina, Pigmentary retinopathy, Retinal flecks ORPHA:100996
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Abnormality of retinal pigmentation, Retinopathy, Chorioretinal atrophy, Abnormal chorioretinal m... ORPHA:5
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Pigmentary retinopathy, Optic atrophy OMIM:252011
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation ORPHA:3085
Corpus Callosum Agenesis-Neuronopathy Syndrome
Abnormality of retinal pigmentation ORPHA:1496
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pigmentary retinopathy OMIM:619059
Desmoid Tumor
Abnormality of retinal pigmentation ORPHA:873
Bardet-Biedl Syndrome 9
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal degeneration, Attenuation of... OMIM:615986
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Pigmentary retinopathy ORPHA:329336
Neurocutaneous Melanocytosis
Chorioretinal coloboma, Abnormality of retinal pigmentation, Numerous congenital melanocytic nevi... ORPHA:2481
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Retinopathy ORPHA:578
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Pigmentary retinopathy, Facial palsy OMIM:613156
Arthrogryposis, Distal, Type 5
Abnormality of retinal pigmentation OMIM:108145
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2518
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Retinal pigment epithelial mottling OMIM:619517
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Abnormality of visual evoked potentials, Abnormal retinal nerve fiber... ORPHA:1215
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Pigmentary retinopathy, Rod-cone dystrophy OMIM:268020
Congenital Rubella Syndrome
Abnormality of retinal pigmentation ORPHA:290
Leigh Syndrome
Pigmentary retinopathy, Optic atrophy OMIM:256000
Chromosome 16Q12 Duplication Syndrome
Retinal pigment epithelial mottling, Temporal optic disc pallor OMIM:619649
Joubert Syndrome 3
Pigmentary retinopathy, Retinal dystrophy OMIM:608629
Classic Pantothenate Kinase-Associated Neurodegeneration
Pigmentary retinopathy, Optic disc pallor, Rod-cone dystrophy ORPHA:216866
Micro Syndrome
Abnormality of retinal pigmentation, Retinal coloboma, Abnormality of visual evoked potentials, O... ORPHA:2510
Chromosome Xp11.3 Deletion Syndrome
Pigmentary retinopathy, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic atrophy OMIM:300578
Vici Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of the skin, Abnormal macular morphology, O... ORPHA:1493
Juvenile Neuronal Ceroid Lipofuscinosis
Pigmentary retinopathy, Optic disc pallor, Retinal degeneration ORPHA:79264
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Hypoplasia of the fovea, Abnormality of the optic nerve, Abnormality of... ORPHA:79431
Bardet-Biedl Syndrome 17
Retinal degeneration, Rod-cone dystrophy, Macular atrophy, Cone/cone-rod dystrophy, Bone spicule ... OMIM:615994
Severe Oculo-Renal-Cerebellar Syndrome
Abnormality of retinal pigmentation, Hypopigmented skin patches, Optic atrophy, Abnormal retinal ... ORPHA:2715
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Optic disc pallor OMIM:617523
Joubert Syndrome 8
Pigmentary retinopathy, Optic disc pallor OMIM:612291
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Abnormal sensory nerve conductio... ORPHA:88628
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Pigmentary retinopathy, Blotching pigmentation of the skin, Mottled pigmentation of photoexposed ... OMIM:560000
Lowry-Wood Syndrome
Abnormality of retinal pigmentation ORPHA:1824
Mulibrey Nanism
Pigmentary retinopathy OMIM:253250
Refsum Disease
Abnormality of retinal pigmentation, Retinopathy ORPHA:773
Holoprosencephaly-Craniosynostosis Syndrome
Abnormality of retinal pigmentation ORPHA:2163
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:585
Zika Virus Disease
Absent foveal reflex, Optic disc hypoplasia, Retinal pigment epithelial mottling, Abnormality of ... ORPHA:448237
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
Pigmentary retinopathy, Optic atrophy OMIM:222300
Cohen Syndrome
Bull's eye maculopathy, Chorioretinal dystrophy, Bone spicule pigmentation of the retina, Optic a... OMIM:216550
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:2235
Xeroderma Pigmentosum, Complementation Group B
Pigmentary retinopathy, Freckling, Optic atrophy, Decreased nerve conduction velocity OMIM:610651
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Abnormality of visual evoked potentials, Decreased motor nerve conduction velocity, Optic disc pa... OMIM:601152
Congenital Bile Acid Synthesis Defect Type 4
Pigmentary retinopathy ORPHA:79095
Peroxisomal Acyl-Coa Oxidase Deficiency
Abnormality of visual evoked potentials, Optic atrophy ORPHA:2971
Isolated Succinate-Coq Reductase Deficiency
Pigmentary retinopathy ORPHA:3208
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormality of retinal pigmentation, Melanocytic nevus, Multiple cafe-au-lait spots, Generalized ... ORPHA:1969
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
Abnormality of somatosensory evoked potentials, Abnormality of visual evoked potentials, Abnormal... ORPHA:320401
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Retinal thinning, Abnormality of retinal pigmentation, Retinal atrophy, Macular atrophy, Cone/con... ORPHA:85167
Lowry-Wood Syndrome
Pigmentary retinopathy OMIM:226960
Bardet-Biedl Syndrome
Pigmentary retinopathy ORPHA:110
Kearns-Sayre Syndrome
Pigmentary retinopathy OMIM:530000
Aceruloplasminemia
Abnormality of retinal pigmentation, Retinal degeneration, Macular degeneration ORPHA:48818
Peroxisome Biogenesis Disorder 5A (Zellweger)
Pigmentary retinopathy, Brushfield spots, Optic nerve dysplasia OMIM:614866
Peroxisome Biogenesis Disorder 2A (Zellweger)
Pigmentary retinopathy, Brushfield spots, Optic nerve dysplasia OMIM:214110
Prolidase Deficiency
Abnormality of retinal pigmentation, White forelock ORPHA:742
Neuromuscular Oculoauditory Syndrome
Retinal pigment epithelial mottling, Chorioretinal lacunae, Decreased nerve conduction velocity, ... OMIM:618733
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Pigmentary retinopathy, Optic atrophy OMIM:220110
Neurodegeneration With Brain Iron Accumulation 2A
Abnormality of visual evoked potentials, Optic atrophy, Decreased nerve conduction velocity OMIM:256600
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Pigmentary retinopathy, Optic atrophy ORPHA:436271
Mucopolysaccharidosis, Type Ii
Abnormality of retinal pigmentation, Papilledema OMIM:309900
Mitochondrial Trifunctional Protein Deficiency
Pigmentary retinopathy OMIM:609015
Usher Syndrome
Abnormality of retinal pigmentation ORPHA:886
Maternal Uniparental Disomy Of Chromosome 4
Pigmentary retinopathy, Optic atrophy, Rod-cone dystrophy ORPHA:96180
Achalasia-Addisonianism-Alacrima Syndrome
Orthostatic hypotension, Abnormality of visual evoked potentials, Abnormal autonomic nervous syst... OMIM:231550
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Pigmentary retinopathy, Perifoveal ring of hyperautofluorescence, Vitiligo 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
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormality of visual evoked potentials, Optic disc pallor, Optic atrophy, Decreased nerve conduc... ORPHA:485421
Myopathy, Mitochondrial, And Ataxia
Pigmentary retinopathy OMIM:617675
Pantothenate Kinase-Associated Neurodegeneration
Bull's eye maculopathy, Retinal degeneration, Retinal flecks, Pigmentary retinopathy, Rod-cone dy... ORPHA:157850
Cohen Syndrome
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Abnormality of skin pigmentation, O... ORPHA:193
Chromosome 6Pter-P24 Deletion Syndrome
Pigmentary retinopathy OMIM:612582
Friedreich Ataxia
Decreased amplitude of sensory action potentials, Optic atrophy, Abnormality of visual evoked pot... OMIM:229300
Aicardi Syndrome
Chorioretinal coloboma, Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Re... ORPHA:50
Alstrom Syndrome
Pigmentary retinopathy, Cone/cone-rod dystrophy OMIM:203800
Mitochondrial Trifunctional Protein Deficiency
Pigmentary retinopathy ORPHA:746
Classic Homocystinuria
Abnormality of retinal pigmentation, Retinal detachment, Optic atrophy ORPHA:394
Autosomal Dominant Cerebellar Ataxia
Pigmentary retinopathy, Retinal degeneration, Macular degeneration ORPHA:99
Retinoblastoma
Retinal calcification, Heterochromia iridis, Abnormality of retinal pigmentation, Vitreous hemorr... ORPHA:790
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy ORPHA:71212
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Retinopathy, Chorioretinal dysplasia, Abnormality of the optic nerve, Abnormality of retinal pigm... ORPHA:2526
Cockayne Syndrome Type 1
Pigmentary retinopathy, Hypermelanotic macule, Absent brainstem auditory responses, Optic atrophy... ORPHA:90321
Cockayne Syndrome A
Abnormality of skin pigmentation, Abnormality of visual evoked potentials, Decreased nerve conduc... OMIM:216400
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormality of retinal pigmentation, Decreased distal sensory nerve action potential, Abnormality... ORPHA:466768
Chédiak-Higashi Syndrome
Hypopigmentation of hair, Abnormality of retinal pigmentation, Hypopigmentation of the skin, Decr... ORPHA:167
Ramon Syndrome
Pigmentary retinopathy, Optic disc pallor OMIM:266270
Werner Syndrome
Premature graying of hair, Abnormality of retinal pigmentation, White forelock ORPHA:902
Peroxisome Biogenesis Disorder 1A (Zellweger)
Pigmentary retinopathy, Optic disc pallor, Brushfield spots OMIM:214100
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Retinal degeneration, Pigmentary retinopathy, Abnormality of macular pigmentation, Macular colobo... ORPHA:79282
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
Khan-Khan-Katsanis Syndrome
Pigmentary retinopathy OMIM:618460
Mucopolysaccharidosis Type 2
Retinopathy, Retinal degeneration, Abnormality of retinal pigmentation, Decreased nerve conductio... ORPHA:580
Abetalipoproteinemia
Abnormality of retinal pigmentation, Hypopigmentation of the fundus, Rod-cone dystrophy ORPHA:14
Trisomy 18
Abnormality of retinal pigmentation ORPHA:3380
Cockayne Syndrome B
Abnormality of skin pigmentation, Abnormality of visual evoked potentials, Decreased nerve conduc... OMIM:133540
Mitochondrial Dna-Associated Leigh Syndrome
Pigmentary retinopathy, Optic atrophy, Rod-cone dystrophy ORPHA:255210
Microphthalmia With Linear Skin Defects Syndrome
Abnormal vitreous humor morphology, Vitritis, Abnormality of skin pigmentation, Chorioretinal dys... ORPHA:2556
Cockayne Syndrome
Retinal degeneration, Retinal hemorrhage, Abnormality of retinal pigmentation, Decreased nerve co... ORPHA:191
Cartilage-Hair Hypoplasia
Abnormality of retinal pigmentation, Aganglionic megacolon ORPHA:175
Melas
Pigmentary retinopathy, Vitiligo, Optic atrophy ORPHA:550
Infantile Nephropathic Cystinosis
Pigmentary retinopathy ORPHA:411629
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Retinal pigment epithelial mottling OMIM:607459
Neurofibromatosis Type 1
Chorioretinal coloboma, Heterochromia iridis, Hypopigmented skin patches, Abnormality of retinal ... ORPHA:636
Mucopolysaccharidosis Type 2, Severe Form
Retinopathy, Abnormality of retinal pigmentation, Papilledema, Optic atrophy, Abnormal foveal mor... ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Retinopathy, Abnormality of retinal pigmentation, Papilledema, Optic atrophy, Abnormal foveal mor... ORPHA:217093
Linear Skin Defects With Multiple Congenital Anomalies 1
Pigmentary retinopathy OMIM:309801
Mucopolysaccharidosis Type 3
Rod-cone dystrophy, Retinal degeneration, Optic atrophy, Pigmentary retinopathy ORPHA:581
Neurodegeneration With Brain Iron Accumulation 1
Pigmentary retinopathy, Retinal degeneration, Optic atrophy, Hyperpigmentation of the skin OMIM:234200
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Pigmentary retinopathy ORPHA:404454
Spondylocarpotarsal Synostosis Syndrome
Abnormality of retinal pigmentation OMIM:272460
Cancer-Associated Retinopathy
Vitritis, Retinal pigment epithelial atrophy, Retinal atrophy, Optic disc pallor, Foveal hyporefl... ORPHA:71505
Tubulointerstitial Nephritis And Uveitis Syndrome
Retinal vasculitis, Chorioretinal scar, Cystoid macular edema, Abnormality of retinal pigmentatio... ORPHA:91500
Cystinosis, Nephropathic
Retinopathy, Hypopigmentation of hair, Hypopigmentation of the skin, Pigmentary retinopathy, Reti... OMIM:219800
Proteus Syndrome
Chorioretinal coloboma, Central heterochromia, Abnormality of skin pigmentation, Abnormality of r... ORPHA:744
Atypical Werner Syndrome
Premature graying of hair, Retinal degeneration, Abnormality of retinal pigmentation, White forel... ORPHA:79474
Pearson Syndrome
Pigmentary retinopathy, Cafe-au-lait spot, Hyperpigmentation of the skin ORPHA:699
Alagille Syndrome 1
Pigmentary retinopathy, Chorioretinal atrophy OMIM:118450
Hardikar Syndrome
Pigmentary retinopathy OMIM:301068
Lipodystrophy, Familial Partial, Type 7
Pigmentary retinopathy, Orthostatic hypotension OMIM:606721
Wiedemann-Rautenstrauch Syndrome
Pigmentary retinopathy, Optic atrophy, Optic disc hypoplasia 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
Lca5tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Lca5tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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