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Gene: Optn MGI:1918898

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Gene Summary

Name:
optineurin
Synonyms:
TFIIIA-INTP,  4930441O07Rik

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased heart weight Optntm1a(EUCOMM)Wtsi HET Early adult 4.01×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 50% (1 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Legacy Phenotype Associated Images
Optntm1a(EUCOMM)Wtsi
body, HOM, Female, WTSI
Optntm1a(EUCOMM)Wtsi
body, HOM, Female, WTSI
Optntm1a(EUCOMM)Wtsi
head, HOM, Female, WTSI
Optntm1a(EUCOMM)Wtsi
forearm, HOM, Female, WTSI
Optntm1a(EUCOMM)Wtsi
body, HOM, Male, WTSI

View all 71 images

Optntm1a(EUCOMM)Wtsi
eye, abnormal pupil morphology, abnormal placement of pupils, HOM, Female, WTSI
Optntm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI

Human diseases caused by Optn 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 Optn by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Glaucoma, Primary Open Angle
Myopia OMIM:137760
Amyotrophic Lateral Sclerosis
Motor neuron atrophy, Amyotrophic lateral sclerosis, Neurodegeneration ORPHA:803
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:613435

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Posterior Column Ataxia
Impaired vibratory sensation, Ataxia, Impaired proprioception OMIM:176250
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Central scotoma... ORPHA:827
Macular Dystrophy, Vitelliform, 2
Abnormal electroretinogram, Reduced visual acuity, Subretinal fluid, Cystoid macular degeneration... OMIM:153700
Optic Atrophy 5
Optic disc pallor, Constriction of peripheral visual field, Central scotoma, Abnormality of patte... OMIM:610708
Occult Macular Dystrophy
Abnormal multifocal electroretinogram, Macular dystrophy, Slow decrease in visual acuity OMIM:613587
Macular Dystrophy, Vitelliform, 4
Moderately reduced visual acuity, Drusen, Decreased Arden ratio of electrooculogram, Vitelliform-... OMIM:616151
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Bull's eye maculopathy, Abnormal electroretinogram, Photophobia, Progres... OMIM:180020
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Abnormal electroretinogram, Optic atrophy, Reduced visual acuity, Attenuation of retinal blood ve... OMIM:165510
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Abnormal electroretinogram, Visual field defect, Rod-con... OMIM:613809
Usher Syndrome, Type I
Visual loss, Rod-cone dystrophy, Abnormal electroretinogram, Undetectable electroretinogram OMIM:276900
Retinitis Pigmentosa 31
Retinal pigment epithelial atrophy, Abnormal electroretinogram, Visual field defect, Rod-cone dys... OMIM:609923
Optic Atrophy 1
Central scotoma, Red-green dyschromatopsia, Optic atrophy, Reduced visual acuity, Abnormal amplit... OMIM:165500
Progressive Cone Dystrophy
Abnormality of retinal pigmentation, Abnormal electroretinogram, Photophobia, Visual impairment, ... ORPHA:1871
X-Linked Retinoschisis
Abnormality of vision, Retinoschisis, Abnormal electroretinogram ORPHA:792
Cone-Rod Dystrophy 22
Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... OMIM:619531
Bothnia Retinal Dystrophy
Bone spicule pigmentation of the retina, Abnormal dark-adapted electroretinogram, Macular degener... ORPHA:85128
Optic Atrophy 8
Abnormal auditory evoked potentials, Visual loss, Central scotoma, Abnormality of pattern visual ... OMIM:616648
Blue Cone Monochromatism
Blue cone monochromacy, Abnormality of retinal pigmentation, Abnormal electroretinogram, Photopho... ORPHA:16
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Undetectable electroretinogram, Nycta... OMIM:609913
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:601718
Sorsby Fundus Dystrophy
Macular dystrophy, Blindness, Abnormal electroretinogram, Chorioretinal atrophy OMIM:136900
Canavan Disease
Abnormality of retinal pigmentation, Blindness, Optic atrophy, Abnormality of visual evoked poten... ORPHA:141
Retinitis Pigmentosa 27
Blindness, Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Macu... OMIM:613750
Intellectual Developmental Disorder And Retinitis Pigmentosa
Abnormal flash visual evoked potentials, Optic disc pallor, Bone spicule pigmentation of the reti... OMIM:618195
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Constriction of peripheral visual field, Optic atrophy, Abno... ORPHA:1215
Choroideremia
Myopia, Abnormality of retinal pigmentation, Nyctalopia, Abnormal electroretinogram, Abnormality ... ORPHA:180
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Myopia, Abnormality of retinal pigmentation, Abnormal electroretinogram, Optic atrophy, Visual im... ORPHA:1574
Retinitis Pigmentosa 54
Bone spicule pigmentation of the retina, Fundus atrophy, Nyctalopia, Abnormal electroretinogram, ... OMIM:613428
Cone-Rod Dystrophy 13
Cone/cone-rod dystrophy, Undetectable light- and dark-adapted electroretinogram, Reduced visual a... OMIM:608194
Retinitis Pigmentosa 4
Blindness, Retinal atrophy, Bone spicule pigmentation of the retina, Nyctalopia, Abnormal electro... OMIM:613731
Oculocutaneous Albinism Type 1
Hypoplasia of the fovea, Amblyopia, Reduced visual acuity, Depigmented fundus, Photophobia, Abnor... ORPHA:352731
Retinitis Pigmentosa 50
Retinal detachment, Optic disc pallor, Nyctalopia, Abnormal electroretinogram, Reduced visual acu... OMIM:613194
Cone Dystrophy 4
Cone/cone-rod dystrophy, Reduced visual acuity, Absent foveal reflex, Photophobia, Dyschromatopsi... OMIM:613093
Ceroid Lipofuscinosis, Neuronal, 2
Increased neuronal autofluorescent lipopigment, Increased extraneuronal autofluorescent lipopigme... OMIM:204500
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Caudate atrophy, Abnormality of somatosensory evoked potenti... ORPHA:52368
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Central scotoma, Red-green dyschromatopsia, Optic atrophy, R... OMIM:125250
Cone-Rod Dystrophy, X-Linked, 3
Cone/cone-rod dystrophy, Myopia, Retinal detachment, Optic disc pallor, Central scotoma, Reduced ... OMIM:300476
Achromatopsia
Hypoplasia of the fovea, Myopia, Attenuation of retinal blood vessels, Retinal pigment epithelial... ORPHA:49382
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Decreased nerve conduction velocity, Visual loss, Optic atrophy, Cerebral atr... OMIM:256600
Retinitis Pigmentosa 7
Constriction of peripheral visual field, Nyctalopia, Adult-onset night blindness, Chorioretinal a... OMIM:608133
Leber Congenital Amaurosis 14
Optic disc pallor, Retinal dystrophy, Nyctalopia, Reduced visual acuity, Photophobia, Decreased l... OMIM:613341
Bietti Crystalline Dystrophy
Blindness, Constriction of peripheral visual field, Large central visual field defect, Retinal pi... ORPHA:41751
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... OMIM:606482
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Abnormal electroretinogram, Optic atrophy, Visual impairment ORPHA:2246
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Central scotoma, Optic atrophy, Slo... OMIM:601152
Leber Congenital Amaurosis 9
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:608553
Leber Congenital Amaurosis 19
Optic disc pallor, Decreased light- and dark-adapted electroretinogram amplitude, Visual impairme... OMIM:618513
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Cerebellar atrophy, Myopia, Cerebral visual impairment, Corpus callosum atrophy, Abnormal electro... OMIM:616875
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Cerebellar atrophy, Optic disc pallor, Undetectable electroretinogram, Abnormality of pattern vis... ORPHA:1947
Åland Islands Eye Disease
Hypoplasia of the fovea, Myopia, Abnormal electroretinogram, Difficulty adjusting from light to d... ORPHA:178333
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:611040
Bothnia Retinal Dystrophy
Macular degeneration, Nyctalopia, Abnormal electroretinogram, Retinal dystrophy OMIM:607475
Krabbe Disease
Abnormal flash visual evoked potentials, Blindness, Diffuse cerebral atrophy, Decreased nerve con... OMIM:245200
Congenital Stationary Night Blindness
Myopia, Abnormality of retinal pigmentation, Retinal thinning, Nyctalopia, Reduced visual acuity,... ORPHA:215
Cone-Rod Dystrophy 12
Cone/cone-rod dystrophy, Bull's eye maculopathy, Central scotoma, Nyctalopia, Reduced visual acui... OMIM:612657
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Blindness, Peripheral axonal neuropathy, Visual loss, Optic atrophy, Undetectable visual evoked p... OMIM:601338
Cone-Rod Dystrophy 2
Cone/cone-rod dystrophy, Blindness, Metamorphopsia, Constriction of peripheral visual field, Reti... OMIM:120970
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased number of pe... OMIM:214400
Retinitis Pigmentosa 69
Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Pigmentary retinopath... OMIM:615780
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Blindness, Visual loss, Optic atrophy, Cerebral atrophy, Pigmentary retinopat... OMIM:610951
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Constriction of peripheral visual field, Patchy atrophy of the retinal pigment epithelium, Undete... ORPHA:436245
Peroxisomal Acyl-Coa Oxidase Deficiency
Abnormality of visual evoked potentials, Myopia, Abnormal electroretinogram, Optic atrophy ORPHA:2971
Late Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Myopia, Blindness, Corpus callosum atrophy, Visual loss, Abnormal amplitude o... ORPHA:168491
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Nyctalopia, Abnormal electrooculogram, Pigmentary retinopathy OMIM:179840
Ceroid Lipofuscinosis, Neuronal, 3
Blindness, Increased neuronal autofluorescent lipopigment, Increased extraneuronal autofluorescen... OMIM:204200
Retinitis Pigmentosa 47
Nyctalopia, Chorioretinal atrophy, Pigmentary retinopathy, Decreased light- and dark-adapted elec... OMIM:613758
Charcot-Marie-Tooth Disease Type 2B1
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... ORPHA:98856
Ataxia With Vitamin E Deficiency
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Nyctalopia, Visual ... ORPHA:96
Acute Zonal Occult Outer Retinopathy
Blind-spot enlargment, Abnormal electroretinogram, Vitritis, Myopia, Retinal pigment epithelial m... ORPHA:284454
Retinitis Pigmentosa 1
Myopia, Optic disc pallor, Constriction of peripheral visual field, Bone spicule pigmentation of ... OMIM:180100
Charcot-Marie-Tooth Disease, Type 4D
Myopia, Abnormal auditory evoked potentials, Segmental peripheral demyelination/remyelination, De... OMIM:601455
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Periph... OMIM:601596
Peho Syndrome
Cerebellar atrophy, Pachygyria, Optic atrophy, Undetectable visual evoked potentials, Peripheral ... OMIM:260565
Retinitis Pigmentosa 93
Constriction of peripheral visual field, Reduced visual acuity, Retinal dots, Rod-cone dystrophy,... OMIM:619845
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Optic disc pallor, Abnormal auditory evoked potentials, ... OMIM:617523
Retinitis Pigmentosa 26
Optic disc pallor, Constriction of peripheral visual field, Undetectable light- and dark-adapted ... OMIM:608380
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Axonal degeneration, A... OMIM:614436
Mepan Syndrome
Cerebellar atrophy, Optic atrophy, Reduced visual acuity, Cerebral atrophy, Abnormality of visual... ORPHA:508093
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Undetectable light- and dark-adapted electroretinogram, ... OMIM:614180
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Photophobia, Abnormality of visual evoked potentials, Brain atrophy, High myopia OMIM:614457
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Macular atrophy, Mizuo p... OMIM:312700
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials, Brain atrophy, Cerebral atrophy OMIM:609304
Ceroid Lipofuscinosis, Neuronal, 1
Blindness, Increased neuronal autofluorescent lipopigment, Undetectable electroretinogram, Optic ... OMIM:256730
Retinitis Pigmentosa 12
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Hi... OMIM:600105
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Reduced visual acuity, Hypermetropia, Retinal flecks, Decreas... OMIM:611809
Leber Congenital Amaurosis 2
Optic disc pallor, Blindness, Undetectable light- and dark-adapted electroretinogram, Nyctalopia,... OMIM:204100
Oculocutaneous Albinism Type 1A
Hypoplasia of the fovea, Ocular albinism, Photophobia, Abnormal optic nerve morphology, Abnormali... ORPHA:79431
Retinitis Pigmentosa 25
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:602772
Infantile Neuroaxonal Dystrophy
Cerebellar atrophy, Blindness, Peripheral axonal neuropathy, Optic atrophy, Abnormal autonomic ne... ORPHA:35069
Cln5 Disease
Cerebellar atrophy, Atrophy/Degeneration affecting the central nervous system, Corpus callosum at... ORPHA:228360
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Myopia, Cerebral visual impairment, Corpus callosum atrophy, Optic atrophy, Cerebral atrophy, Abn... ORPHA:480898
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Nyctalopia, Abnormal light- and dark-adapted electroreti... OMIM:613801
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Abnormal electroretinogram, Visual impairment, Abnormality o... ORPHA:1933
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Peripheral axonal degeneration, Amyotrophic lateral scler... OMIM:602433
Micro Syndrome
Abnormality of retinal pigmentation, Cerebral visual impairment, Optic atrophy, Retinal coloboma,... ORPHA:2510
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Abnormality of visual evoked potentials, Visual loss, Nonarteritic anterior ischemic optic neurop... OMIM:125310
Leber Congenital Amaurosis 6
Photophobia, High hypermetropia, Severely reduced visual acuity, Undetectable electroretinogram, ... OMIM:613826
Friedreich Ataxia
Optic atrophy, Reduced visual acuity, Visual field defect, Abnormality of visual evoked potential... OMIM:229300
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Bone spicule pigmentation of the retina, Visual loss, Nyctalopia, Axonal degeneration, Pigmentary... ORPHA:88628
Retinitis Pigmentosa 51
Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, High myopia, Photopho... OMIM:613464
Night Blindness, Congenital Stationary, Type 1C
Congenital stationary night blindness, Myopia, Abnormal electroretinogram, Reduced visual acuity OMIM:613216
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Abnorm... ORPHA:485421
Pelizaeus-Merzbacher Disease
Abnormality of visual evoked potentials, Optic atrophy, Cerebral cortical atrophy, Visual impairment ORPHA:702
Retinal Cone Dystrophy 3A
Cone dystrophy, Abnormal light-adapted flicker electroretinogram, Nyctalopia, Reduced visual acui... OMIM:610024
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials, Cerebral visual impairment ORPHA:1389
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l... OMIM:612095
Retinitis Pigmentosa 43
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Abnormal electroretinogra... OMIM:613810
Cone-Rod Dystrophy 19
Cone/cone-rod dystrophy, Reduced visual acuity, High myopia, Perifoveal ring of hyperautofluoresc... OMIM:615860
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Degeneration of anterior horn cells, Axonal degeneration, Decreased number of peripheral myelinat... OMIM:604484
Primary Non-Essential Cutis Verticis Gyrata
Abnormality of pattern visual evoked potentials, Reduced visual acuity ORPHA:357225
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Myopia, Abnormal electroretinogram, Abnormality of retinal pigmentation, Facial palsy ORPHA:2743
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Cerebellar atrophy, De... OMIM:302800
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Blindness, Diffuse cerebral atrophy, Decreased ne... ORPHA:206436
Leber Congenital Amaurosis 5
Visual loss, Hypermetropia, High hypermetropia, Visual impairment, Undetectable electroretinogram OMIM:604537
Spinocerebellar Ataxia Type 1
Cerebellar atrophy, Abnormal flash visual evoked potentials, Optic atrophy, Atrophy/Degeneration ... ORPHA:98755
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Axonal degeneration, C... OMIM:604168
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormal electroretinogram, Abnormality of neuronal migratio... ORPHA:65
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased nerve conduction velocity, Decreased number of large peripheral myelinated nerve fibers... ORPHA:90103
Leber Congenital Amaurosis 8
Macular coloboma, Chorioretinal atrophy, Reduced visual acuity, Nummular pigmentation of the fund... OMIM:613835
Amyotrophy, Hereditary Neuralgic
Peripheral axonal degeneration, Axonal degeneration, Brachial plexus neuropathy OMIM:162100
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Blindness, Decreased nerve conduction velocity, V... ORPHA:206443
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Abnormality of soma... ORPHA:320401
White-Sutton Syndrome
Myopia, Optic nerve hypoplasia, Mild myopia, Patent ductus arteriosus, Abnormal electroretinogram... OMIM:616364
Severe Early-Childhood-Onset Retinal Dystrophy
Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, Photophobia, Retinal ... ORPHA:364055
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia, Deuteranopia, Amblyopia, High myopia... OMIM:300843
Retinitis Punctata Albescens
Retinal atrophy, Macular atrophy, Central scotoma, Nyctalopia, Progressive visual field defects, ... ORPHA:52427
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l... OMIM:613617
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Nyctalopia, Abnormal electroretinogram, Abnormality of pattern visual evoked potentials, Visual f... ORPHA:166035
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Blindness, Abnormal retinal vascular morphology, Abnormal el... ORPHA:791
Retinitis Pigmentosa 45
Bone spicule pigmentation of the retina, Nyctalopia, Abnormal electroretinogram, Peripheral visua... OMIM:613767
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Axonal degeneration OMIM:616155
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Blindness, Large hyperpigmented retina... OMIM:193235
Combined Oxidative Phosphorylation Defect Type 29
Optic neuropathy, Axonal degeneration, Neurodegeneration, Abnormal autonomic nervous system physi... ORPHA:478029
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:600132
Usher Syndrome Type 1
Scotoma, Visual loss, Nyctalopia, Abnormal electroretinogram, Subcortical cerebral atrophy, Hemia... ORPHA:231169
Oligocone Trichromacy
Photophobia, Abnormal electroretinogram ORPHA:75378
Combined Oxidative Phosphorylation Deficiency 29
Cerebellar atrophy, Optic neuropathy, Axonal degeneration, Optic atrophy, Retinopathy, Global bra... OMIM:616811
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Decreased nerve conduction velocity, Axonal degeneration OMIM:618138
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Peripheral axonal neuropathy, Axonal degeneration OMIM:620011
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Axonal degeneration, Dec... OMIM:615490
Xq12-Q13.3 Duplication Syndrome
Abnormality of visual evoked potentials, Optic disc pallor ORPHA:314389
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Undetectable visual evoked potentials, Chorioretinal coloboma ORPHA:163961
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:180105
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cerebellar atrophy, Peripheral axonal degeneration, Axonal degeneration, Decreased number of larg... OMIM:208920
Retinitis Pigmentosa 37
Constriction of peripheral visual field, Undetectable light- and dark-adapted electroretinogram, ... OMIM:611131
Achalasia-Addisonianism-Alacrima Syndrome
Orthostatic hypotension, Optic atrophy, Abnormal autonomic nervous system physiology, Abnormality... OMIM:231550
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Myopia, Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Visual loss, Nyct... ORPHA:5
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Optic disc pallor, Retinal dystrophy, Macular coloboma, Undetectable visual evoked potentials, Ap... ORPHA:423479
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Optic atrophy, Reduced visual acuity, Abnormality of visual ... ORPHA:309256
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Decreased nerve conduction velocity, Peripheral axonal degeneration, Axonal degeneration, Degener... OMIM:604320
Metachromatic Leukodystrophy, Juvenile Form
Decreased nerve conduction velocity, Optic atrophy, Reduced visual acuity, Abnormality of visual ... ORPHA:309263
Retinitis Pigmentosa 46
Optic disc pallor, Constriction of peripheral visual field, Pigmentary retinopathy, Decreased lig... OMIM:612572
Mitochondrial Dna Depletion Syndrome 18
Axonal degeneration OMIM:618811
Mohr-Tranebjaerg Syndrome
Myopia, Constriction of peripheral visual field, Cerebral visual impairment, Abnormal electroreti... OMIM:304700
Autosomal Recessive Spastic Paraplegia Type 11
Orthostatic hypotension, Peripheral axonal neuropathy, Atrophy of the spinal cord, Abnormality of... ORPHA:2822
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Undetectable visual evoked potentials, Visual loss, Cerebral visual impairment OMIM:619051
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Abnormal electroretinogram, Retinal degeneration OMIM:617173
Hermansky-Pudlak Syndrome
Myopia, Amblyopia, Ocular albinism, Photophobia, Abnormal optic nerve morphology, Abnormality of ... ORPHA:79430
Achromatopsia 2
Hypoplasia of the fovea, Retinal thinning, Nyctalopia, Reduced visual acuity, Absent foveal refle... OMIM:216900
Ruvalcaba Syndrome
Abnormality of visual evoked potentials, Abnormal electroretinogram ORPHA:3121
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Myopia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Nyctalopia, Ab... ORPHA:1390
Metachromatic Leukodystrophy, Adult Form
Decreased nerve conduction velocity, Optic atrophy, Reduced visual acuity, Abnormality of visual ... ORPHA:309271
Leber Congenital Amaurosis 7
Photophobia, Undetectable electroretinogram, Visual impairment OMIM:613829
Warburg Micro Syndrome 2
Undetectable visual evoked potentials, Polymicrogyria, Optic atrophy, Global brain atrophy OMIM:614225
Usher Syndrome Type 3
Scotoma, Visual loss, Nyctalopia, Abnormal electroretinogram, Hemianopia, High hypermetropia ORPHA:231183
Developmental And Epileptic Encephalopathy 28
Abnormal electroretinogram, Optic atrophy, Simplified gyral pattern, Cerebral atrophy, Retinal de... OMIM:616211
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Optic disc pallor, Optic neuropathy, Abnormal auditory evoked potentials, Abn... ORPHA:909
Mpdu1-Cdg
Undetectable visual evoked potentials, Optic atrophy ORPHA:79323
Chromosome Xp11.3 Deletion Syndrome
Moderate myopia, Constriction of peripheral visual field, Blindness, Undetectable electroretinogr... OMIM:300578
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebellar atrophy, Optic disc pallor, Macular coloboma, Macular atrophy, Abnormal auditory evoke... OMIM:619260
Cockayne Syndrome A
Cerebellar atrophy, Retinal atrophy, Abnormal peripheral myelination, Abnormal auditory evoked po... OMIM:216400
Van Den Bosch Syndrome
Choroideremia, Abnormal electroretinogram, High myopia ORPHA:3417
Posterior Column Ataxia With Retinitis Pigmentosa
Blindness, Ring scotoma, Bone spicule pigmentation of the retina, Decreased sensory nerve conduct... OMIM:609033
Enhanced S-Cone Syndrome
Nyctalopia, Macular edema, Hemeralopia, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis,... OMIM:268100
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
Abnormal electroretinogram, Optic atrophy, Visual impairment ORPHA:1154
Mogs-Cdg
Abnormality of visual evoked potentials, Absent brainstem auditory responses, Optic atrophy ORPHA:79330
Osteopetrosis, Autosomal Recessive 5
Optic disc pallor, Facial palsy, Optic atrophy, Cerebral atrophy, Undetectable visual evoked pote... OMIM:259720
Cockayne Syndrome B
Abnormal peripheral myelination, Abnormal auditory evoked potentials, Decreased nerve conduction ... OMIM:133540
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Cerebral visual impairment, Visual loss, Cerebral cortical neurodegeneration,... OMIM:203700
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Facial palsy, Pontocerebellar atrophy, Lissencephaly, Abnormality of visual evoked potentials, Pa... ORPHA:258
Usher Syndrome Type 2
Myopia, Scotoma, Visual loss, Nyctalopia, Abnormal electroretinogram, Subcortical cerebral atroph... ORPHA:231178
Mucolipidosis Type Iv
Photophobia, Abnormality of retinal pigmentation, Abnormal electroretinogram, Retinopathy ORPHA:578
Joubert Syndrome 3
Frontal polymicrogyria, Retinal dystrophy, Abnormal electroretinogram, Pigmentary retinopathy, Vi... OMIM:608629
Usher Syndrome
Myopia, Blindness, Abnormality of retinal pigmentation, Nyctalopia, Abnormal electroretinogram, V... ORPHA:886
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Myopia, Abnormal electroretinogram ORPHA:1369
Adrenomyeloneuropathy
Peripheral axonal degeneration, Atrophy/Degeneration involving the corticospinal tracts, Atrophy ... ORPHA:139399
De Sanctis-Cacchione Syndrome
Cerebral atrophy, Axonal degeneration, Optic atrophy, Global brain atrophy OMIM:278800
Angioedema, Hereditary, 1
Peripheral axonal neuropathy, Axonal degeneration OMIM:106100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Myopia, Retinal atrophy, Type II lissencephaly, Undetectable electroretinogram, Pachygyria, Optic... OMIM:253280
Cerebellar Ataxia-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Abnormal electroretinogram, Optic atrophy ORPHA:1173
Metachromatic Leukodystrophy
Decreased nerve conduction velocity, Visual impairment, Abnormality of visual evoked potentials ORPHA:512
Autosomal Recessive Malignant Osteopetrosis
Abnormality of visual evoked potentials, Optic nerve compression, Visual impairment ORPHA:667
Mitochondrial Complex I Deficiency, Nuclear Type 1
Cerebellar atrophy, Optic disc pallor, Blindness, Optic neuropathy, Undetectable visual evoked po... OMIM:252010
Arthrogryposis, Distal, Type 5
Abnormality of retinal pigmentation, Abnormal electroretinogram, Retinal fold, Hypermetropia OMIM:108145
Kanzaki Disease
Peripheral axonal neuropathy, Axonal degeneration, Cerebral atrophy OMIM:609242
Maternal Uniparental Disomy Of Chromosome 6
Rod-cone dystrophy, Abnormal electroretinogram, Progressive visual loss ORPHA:96181
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Optic disc pallor, Abnormal electroretinogram, Reduced visual acuity OMIM:614195
Joubert Syndrome 25
Abnormal electroretinogram OMIM:616781
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Abnormal electroretinogram, Retinal degeneration ORPHA:542306
Congenital Fibrosis Of Extraocular Muscles
Abnormal visual field test, Optic nerve hypoplasia, Amblyopia, Abnormal electroretinogram, Abnorm... ORPHA:45358
Machado-Joseph Disease
Cerebellar atrophy, Diplopia, Abnormal electrooculogram, Abnormal autonomic nervous system physio... OMIM:109150
Bardet-Biedl Syndrome
Pigmentary retinopathy, Abnormal electroretinogram ORPHA:110
Peroxisome Biogenesis Disorder 1A (Zellweger)
Optic disc pallor, Patent ductus arteriosus, Abnormal electroretinogram, Pigmentary retinopathy, ... OMIM:214100
Cockayne Syndrome
Cerebellar atrophy, Abnormality of retinal pigmentation, Optic disc pallor, Retinal atrophy, Reti... ORPHA:191
Glaucoma, Primary Open Angle
Myopia OMIM:137760
Neurofibromatosis Type 1
Myopia, Abnormality of retinal pigmentation, Spinal neurofibroma, Abnormal electroretinogram, Abn... ORPHA:636
Amyotrophic Lateral Sclerosis
Motor neuron atrophy, Amyotrophic lateral sclerosis, Neurodegeneration ORPHA:803
Degcags Syndrome
Patent ductus arteriosus, Abnormal electroretinogram OMIM:619488
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:613435

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 Optn

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 Optn.

There are 15 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Deciphering the mitophagy receptor network identifies a crucial role for OPTN (optineurin) in acute myeloid leukemia. Autophagy (July 2023) Optntm1a(EUCOMM)Wtsi 37439113
Optineurin modulates the maturation of dendritic cells to regulate autoimmunity through JAK2-STAT3 signaling. Nature communications (October 2021) Optntm1a(EUCOMM)Wtsi PMC8551263
A RIPK1-regulated inflammatory microglial state in amyotrophic lateral sclerosis. Proceedings of the National Academy of Sciences of the United States of America (March 2021) Optntm1a(EUCOMM)Wtsi PMC8020785
Loss of Optineurin Drives Cancer Immune Evasion via Palmitoylation-Dependent IFNGR1 Lysosomal Sorting and Degradation. Cancer discovery (February 2021) Optntm1a(EUCOMM)Wtsi PMC8292167
Autophagy receptor OPTN (optineurin) regulates mesenchymal stem cell fate and bone-fat balance during aging by clearing FABP3. Autophagy (November 2020) Optntm1a(EUCOMM)Wtsi 33143524
Functional analysis of candidate genes from genome-wide association studies of hearing. Hearing research (January 2020) Optntm1a(EUCOMM)Wtsi PMC6996162
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Optntm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Optntm1a(EUCOMM)Wtsi PMC6459510
Deletion of Ripk3 Prevents Motor Neuron Death In Vitro but not In Vivo. eNeuro (January 2019) Optntm1c(EUCOMM)Wtsi Optntm1a(EUCOMM)Wtsi Optntm1d(EUCOMM)Wtsi PMC6391588
ALS-Associated E478G Mutation in Human OPTN (Optineurin) Promotes Inflammation and Induces Neuronal Cell Death. Frontiers in immunology (November 2018) Optntm1a(EUCOMM)Wtsi PMC6251386
Optineurin in amyotrophic lateral sclerosis: Multifunctional adaptor protein at the crossroads of different neuroprotective mechanisms. Progress in neurobiology (April 2017) Optntm1a(EUCOMM)Wtsi 28456633
RIPK1 mediates axonal degeneration by promoting inflammation and necroptosis in ALS. Science (New York, N.Y.) (August 2016) Optntm1a(EUCOMM)Wtsi PMC5444917
Optineurin deficiency in mice is associated with increased sensitivity to Salmonella but does not affect proinflammatory NF-κB signaling. European journal of immunology (January 2016) Optntm1c(EUCOMM)Wtsi Optntm1a(EUCOMM)Wtsi 26677802
Optineurin deficiency in mice contributes to impaired cytokine secretion and neutrophil recruitment in bacteria-driven colitis. Disease models & mechanisms (June 2015) Optntm1a(EUCOMM)Wtsi PMC4527293
Ubiquitylation of autophagy receptor Optineurin by HACE1 activates selective autophagy for tumor suppression. Cancer cell (July 2014) Optntm1a(EUCOMM)Wtsi PMC4166492

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MGI Allele Allele Type Produced
Optntm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Optntm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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