banner
Genes Phenotypes Help, News, Blog

Gene: Optn MGI:1918898

Log in to follow

Gene Summary

Name:
optineurin
Synonyms:
TFIIIA-INTP,  4930441O07Rik

Order Alleles

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 4.83×10-05

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
Neurodegeneration, Motor neuron atrophy, Amyotrophic lateral sclerosis 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, Impaired proprioception, Ataxia OMIM:176250
Stargardt Disease
Color vision defect, Abnormality of macular pigmentation, Macular degeneration, Retinal pigment e... ORPHA:827
Optic Atrophy 5
Optic atrophy, Slow decrease in visual acuity, Constriction of peripheral visual field, Abnormali... OMIM:610708
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Optic Atrophy 1
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Centrocecal scoto... OMIM:165500
Canavan Disease
Optic atrophy, Blindness, Abnormality of retinal pigmentation, EEG abnormality, Visual impairment... ORPHA:141
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Intellectual Developmental Disorder And Retinitis Pigmentosa
Macular degeneration, Attenuation of retinal blood vessels, Peripapillary atrophy, Reduced visual... OMIM:618195
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Constriction of peripheral visual field, Motor axonal neuropathy, Abnormal retinal... ORPHA:1215
Mohr-Tranebjaerg Syndrome
Color vision defect, Optic atrophy, Global brain atrophy, Abnormality of somatosensory evoked pot... ORPHA:52368
Late Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Cerebral atrophy, Abnormal amplitude of flash visual evoked potentials, Blind... ORPHA:168491
Oculocutaneous Albinism Type 1
Optic nerve misrouting, Hypoplasia of the fovea, Abnormal morphology of the choroidal vasculature... ORPHA:352731
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
EEG with abnormally slow frequencies, EEG with generalized epileptiform discharges, Cerebellar at... ORPHA:1947
Retinal Cone Dystrophy 1
Color vision defect, Abnormal electroretinogram, Bull's eye maculopathy, Retinal degeneration, Co... OMIM:180020
Bothnia Retinal Dystrophy
Abnormal choroid morphology, Abnormal dark-adapted electroretinogram, Rod-cone dystrophy, Retinal... ORPHA:85128
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, B... OMIM:610951
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Peripheral axonal de... OMIM:606482
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Slow decrease in visual acuity, Color vision defect, Optic atrophy, Decreased motor nerve conduct... OMIM:601152
Krabbe Disease
Optic atrophy, Neurodegeneration, Decreased nerve conduction velocity, Peripheral demyelination, ... OMIM:245200
Charcot-Marie-Tooth Disease, Type 4A
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Basal lamina onion bulb fo... OMIM:214400
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Decreased nerve conductio... OMIM:256600
Spastic Paraplegia 79B, Autosomal Recessive
Optic atrophy, Cerebellar atrophy, Cerebral atrophy, Opto-chiasmatic atrophy, Neurodegeneration, ... OMIM:615491
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Optic atrophy, Cerebellar atrophy, Abnormal electroretinogram, Cerebral atrophy, Cerebral visual ... OMIM:616875
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Abnormal electroretinogram, EEG abnormality, Myopia, Abnormality of visual evoked ... ORPHA:2971
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Retinitis Pigmentosa 32
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... OMIM:609913
Peho Syndrome
Optic atrophy, Undetectable visual evoked potentials, Cerebellar atrophy, Polymicrogyria, Periphe... OMIM:260565
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Optic atrophy, Undetectable visual evoked potentials, Blindness, Visual loss, Peripheral axonal n... OMIM:601338
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Axonal degeneration/re... OMIM:614436
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Undetectable visual evoked potentials, Constriction of peripheral visual field, Progressive night... ORPHA:436245
Charcot-Marie-Tooth Disease, Type 4D
Segmental peripheral demyelination/remyelination, Abnormal auditory evoked potentials, Decreased ... OMIM:601455
Charcot-Marie-Tooth Disease Type 2B1
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Sens... ORPHA:98856
Cone-Rod Dystrophy, X-Linked, 3
Color vision defect, Abnormality of macular pigmentation, Visual impairment, Abnormal light- and ... OMIM:300476
Developmental And Epileptic Encephalopathy 3
EEG with burst suppression, Abnormality of visual evoked potentials, Brain atrophy, Cerebral atrophy OMIM:609304
Ataxia With Vitamin E Deficiency
Visual impairment, Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, ... ORPHA:96
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Amblyopia, Abnormality of visual evoked p... OMIM:617523
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Cerebellar atrophy, Decreased nerve conduction velocity, Hypsarrhythmia, EEG abnor... ORPHA:485421
Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic lateral sclerosis, Decreased compound muscle action potential amplitude, Axonal degen... OMIM:602433
Mepan Syndrome
Optic atrophy, Cerebellar atrophy, Cerebral atrophy, Reduced visual acuity, Abnormality of visual... ORPHA:508093
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Photophobia, High myopia, Brain atrophy, Abnormality of visual evoked potentials OMIM:614457
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Diffuse cerebellar atrophy, Optic atrophy, Cerebral atrophy, Cerebral visual impairment, Corpus c... ORPHA:480898
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of visual evok... ORPHA:320401
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Pigmentary retinopathy, Abnormal sensory nerve conduction velocity, Visual loss, Axonal degenerat... ORPHA:88628
Friedreich Ataxia
Optic atrophy, Decreased amplitude of sensory action potentials, Visual field defect, Reduced vis... OMIM:229300
Infantile Neuroaxonal Dystrophy
Optic atrophy, Cerebellar atrophy, Blindness, Abnormality of peripheral nerve conduction, Periphe... ORPHA:35069
Oculocutaneous Albinism Type 1A
Abnormal optic nerve morphology, Ocular albinism, Hypoplasia of the fovea, Photophobia, Visual im... ORPHA:79431
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Visual impairment, Abnormal electroretinogram, Abnormality o... ORPHA:1933
Micro Syndrome
Cerebral cortical atrophy, Optic atrophy, Retinal coloboma, Abnormality of retinal pigmentation, ... ORPHA:2510
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Visual loss, Abnormal electroretinogram, Nonarteritic anterior ischemic optic neuropathy, Abnorma... OMIM:125310
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Cerebellar atrophy, Decreased number of peripheral mye... OMIM:302800
Pelizaeus-Merzbacher Disease
Optic atrophy, Visual impairment, Cerebral cortical atrophy, Abnormality of visual evoked potentials ORPHA:702
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cerebral visual impairment, Abnormality of visual evoked potentials ORPHA:1389
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Cerebral atrophy, Peripheral demyelination, Peripheral... OMIM:604168
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Spinocerebellar Ataxia Type 1
Abnormal nerve conduction velocity, Optic atrophy, Cerebellar atrophy, Abnormality of somatosenso... ORPHA:98755
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Cherry red spot of the... ORPHA:206436
Primary Non-Essential Cutis Verticis Gyrata
Reduced visual acuity, Abnormality of pattern visual evoked potentials ORPHA:357225
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Degeneration of anterior horn cells, Axon... OMIM:604484
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:615490
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Cerebral cortical atrophy, Abnormal electroretinogram, Abnormality of pattern visual evoked poten... ORPHA:166035
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Decreased nerve conduction velocity, Axonal degeneration OMIM:618138
Amyotrophy, Hereditary Neuralgic
Brachial plexus neuropathy, Peripheral axonal degeneration, Axonal degeneration OMIM:162100
Combined Oxidative Phosphorylation Defect Type 29
Diffuse cerebellar atrophy, Global brain atrophy, Neurodegeneration, Retinopathy, Axonal degenera... ORPHA:478029
White-Sutton Syndrome
Abnormal electroretinogram, Cerebral atrophy, Hypermetropia, Rod-cone dystrophy, Mild myopia, Myo... OMIM:616364
Xq12-Q13.3 Duplication Syndrome
Optic disc pallor, Hypsarrhythmia, Abnormality of visual evoked potentials ORPHA:314389
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Axonal degeneration OMIM:616155
Combined Oxidative Phosphorylation Deficiency 29
Optic atrophy, Global brain atrophy, Cerebellar atrophy, Retinopathy, Axonal degeneration, Optic ... OMIM:616811
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Peripheral axonal neuropathy, Axonal degeneration OMIM:620011
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Decreased nerve conduction velocity, Peripheral axonal degeneration, Degeneration of anterior hor... OMIM:604320
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Undetectable visual evoked potentials, Aplasia/Hypoplasia of the optic nerve, Retinal dystrophy, ... ORPHA:423479
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Undetectable visual evoked potentials, Chorioretinal coloboma ORPHA:163961
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Cerebral visual impairment, Undetectable visual evoked potentials, Visual loss OMIM:619051
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal degeneration, Cer... OMIM:208920
Metachromatic Leukodystrophy, Late Infantile Form
Optic atrophy, Reduced visual acuity, Abnormality of visual evoked potentials, Decreased nerve co... ORPHA:309256
Achalasia-Addisonianism-Alacrima Syndrome
Optic atrophy, Motor axonal neuropathy, Orthostatic hypotension, Abnormal autonomic nervous syste... OMIM:231550
Autosomal Recessive Spastic Paraplegia Type 11
Cerebral cortical atrophy, Abnormality of pattern visual evoked potentials, Retinal degeneration,... ORPHA:2822
Metachromatic Leukodystrophy, Juvenile Form
Optic atrophy, Reduced visual acuity, Abnormality of visual evoked potentials, Decreased nerve co... ORPHA:309263
Mitochondrial Dna Depletion Syndrome 18
Axonal degeneration OMIM:618811
Mpdu1-Cdg
Optic atrophy, Undetectable visual evoked potentials, Hypsarrhythmia ORPHA:79323
Cerebrotendinous Xanthomatosis
Optic atrophy, Abnormal auditory evoked potentials, Cerebellar atrophy, Global brain atrophy, Abn... ORPHA:909
Hermansky-Pudlak Syndrome
Abnormal optic nerve morphology, Ocular albinism, Amblyopia, Myopia, Photophobia, Visual impairme... ORPHA:79430
Warburg Micro Syndrome 2
Optic atrophy, Global brain atrophy, Undetectable visual evoked potentials, Polymicrogyria OMIM:614225
Metachromatic Leukodystrophy, Adult Form
Optic atrophy, Decreased nerve conduction velocity, Orthostatic hypotension due to autonomic dysf... ORPHA:309271
Ruvalcaba Syndrome
Abnormal electroretinogram, Abnormality of visual evoked potentials ORPHA:3121
Cockayne Syndrome A
Optic atrophy, Pigmentary retinopathy, Abnormal auditory evoked potentials, Cerebellar atrophy, R... OMIM:216400
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Undetectable visual evoked potentials, Cerebral atrophy, Severely reduced visual a... OMIM:259720
Mogs-Cdg
Optic atrophy, Absent brainstem auditory responses, Abnormality of visual evoked potentials ORPHA:79330
Cockayne Syndrome B
Optic atrophy, Pigmentary retinopathy, Abnormal auditory evoked potentials, Cerebral atrophy, Per... OMIM:133540
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Cerebral atrophy, Cerebral cortical neurodegeneration, Visual loss, Cerebral ... OMIM:203700
Adrenomyeloneuropathy
Axonal degeneration, Peripheral axonal degeneration, Atrophy of the spinal cord, Delayed somatose... ORPHA:139399
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Optic atrophy, Undetectable electroretinogram, Polymicrogyria, Type II lissencephaly, Hypoplasia ... OMIM:253280
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Pontocerebellar atrophy, Abnormality of visual evoked potentials, Pachygyria, Facial palsy, Lisse... ORPHA:258
De Sanctis-Cacchione Syndrome
Optic atrophy, Global brain atrophy, Cerebral atrophy, Axonal degeneration OMIM:278800
Mitochondrial Complex I Deficiency, Nuclear Type 1
Undetectable visual evoked potentials, Cerebellar atrophy, Blindness, Optic disc pallor, Optic ne... OMIM:252010
Metachromatic Leukodystrophy
Decreased nerve conduction velocity, Visual impairment, Abnormality of visual evoked potentials ORPHA:512
Angioedema, Hereditary, 1
Peripheral axonal neuropathy, Axonal degeneration OMIM:106100
Autosomal Recessive Malignant Osteopetrosis
Optic nerve compression, Visual impairment, Abnormality of visual evoked potentials ORPHA:667
Kanzaki Disease
Peripheral axonal neuropathy, Cerebral atrophy, Axonal degeneration OMIM:609242
Glaucoma, Primary Open Angle
Myopia OMIM:137760
Amyotrophic Lateral Sclerosis
Neurodegeneration, Motor neuron atrophy, Amyotrophic lateral sclerosis ORPHA:803
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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter