Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
olfactomedin 2
Synonyms:
A030009A06Rik

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 Olfm2 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Olfm2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Persistent Idiopathic Facial Pain
Paresthesia, Impaired pain sensation, Anxiety, Depression, Somatic sensory dysfunction ORPHA:398147
Charcot-Marie-Tooth Disease, Type 4D
Onion bulb formation, Gait disturbance, Axonal loss, Abnormal auditory evoked potentials, Abnorma... OMIM:601455
Severe Primary Trimethylaminuria
Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity, Anxiety, Depression ORPHA:468726
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy, Abnormal electroretinogram OMIM:165510
Intellectual Developmental Disorder And Retinitis Pigmentosa
Abnormal flash visual evoked potentials, Optic disc pallor, Peripapillary atrophy, Macular degene... OMIM:618195
Developmental And Epileptic Encephalopathy 56
Anxiety, Attention deficit hyperactivity disorder, Ataxia, Broad-based gait OMIM:617665
Spastic Ataxia 4, Autosomal Recessive
Optic atrophy, Emotional lability, Spastic ataxia OMIM:613672
Familial Alzheimer-Like Prion Disease
Anxiety, Attention deficit hyperactivity disorder, Emotional lability, Depression ORPHA:280397
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Abnormality ... ORPHA:320401
Spinocerebellar Ataxia Type 1
Impaired proprioception, Optic atrophy, Gait disturbance, Dystonia, Abnormality of somatosensory ... ORPHA:98755
Macular Dystrophy, Vitelliform, 4
Macular dystrophy, Vitelliform-like macular lesions, Decreased Arden ratio of electrooculogram, D... OMIM:616151
Stargardt Disease
Abnormality of visual evoked potentials, Aplasia/Hypoplasia of the macula, Retinal pigment epithe... ORPHA:827
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy, Ataxia OMIM:136600
Occult Macular Dystrophy
Macular dystrophy, Abnormal multifocal electroretinogram OMIM:613587
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Abnormality of visual evoked potentials, Temporal optic disc pallor, Motor axonal ... ORPHA:1215
Retinitis Pigmentosa 36
Optic disc pallor, Undetectable electroretinogram, Bone spicule pigmentation of the retina, Rod-c... OMIM:610599
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Ataxia, Optic atrophy, Abnormality of retinal pigmentation, Abnormal electroretinogram ORPHA:2246
Cln5 Disease
Abnormality of visual evoked potentials, Dysmetria, Aggressive behavior, Hyperactivity, Inability... ORPHA:228360
Macular Dystrophy, Vitelliform, 2
Abnormal electroretinogram, Macular dystrophy, Subretinal fluid, Cystoid macular degeneration OMIM:153700
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic atrophy, Optic disc pallor, Abnormality of visua... OMIM:601152
Infantile Neuroaxonal Dystrophy
Optic atrophy, Diffuse axonal swelling, Peripheral axonal neuropathy, Abnormality of visual evoke... ORPHA:35069
Chorea, Benign Hereditary
Anxiety, Gait disturbance, Chorea OMIM:118700
Late-Infantile/Juvenile Krabbe Disease
Gait disturbance, Acroparesthesia, Abnormality of visual evoked potentials, Loss of ambulation, D... ORPHA:206443
Optic Atrophy 1
Ataxia, Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials OMIM:165500
Ataxia With Vitamin E Deficiency
Gait disturbance, Abnormality of retinal pigmentation, Abnormality of visual evoked potentials, D... ORPHA:96
Mental Retardation, Autosomal Dominant 52
Hyperactivity, Anxiety OMIM:617796
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Nonarteritic anterior ischemic optic neuropathy, Abnormality of visual evoked potentials, Abnorma... OMIM:125310
Friedreich Ataxia
Impaired proprioception, Optic atrophy, Abnormality of visual evoked potentials, Decreased sensor... OMIM:229300
Mohr-Tranebjaerg Syndrome
Optic atrophy, Dystonia, Abnormality of visual evoked potentials, Abnormality of somatosensory ev... ORPHA:52368
Myoclonus-Dystonia Syndrome
Dystonia, Writer's cramp, Torticollis, Personality disorder, Panic attack, Anxiety, Depression ORPHA:36899
Retinitis Pigmentosa 31
Retinal pigment epithelial atrophy, Abnormal electroretinogram, Rod-cone dystrophy, Attenuation o... OMIM:609923
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Ataxia, Abnormality of visual evoked potentials, Abnormal electroretinogram, Decreased nerve cond... ORPHA:1933
Late Infantile Neuronal Ceroid Lipofuscinosis
Gait disturbance, Abnormality of visual evoked potentials, Retinal degeneration, Aggressive behav... ORPHA:168491
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Abnormality of visual evoked potentials, Abnormal electroretinogram, Gait disturbance ORPHA:2971
Wolfram-Like Syndrome, Autosomal Dominant
Optic atrophy, Anxiety, Depression OMIM:614296
Optic Atrophy 8
Prolonged somatosensory evoked potentials, Optic atrophy, Abnormal auditory evoked potentials, Ab... OMIM:616648
Pandas
Abnormal fear/anxiety-related behavior, Agoraphobia, Chorea, Claustrophobia, Irritability, Emotio... ORPHA:66624
X-Linked Retinoschisis
Retinoschisis, Abnormal electroretinogram ORPHA:792
Pelizaeus-Merzbacher Disease
Dystonia, Optic atrophy, Abnormality of visual evoked potentials, Gait disturbance, Choreoathetos... ORPHA:702
Metachromatic Leukodystrophy, Late Infantile Form
Optic atrophy, Dystonia, Abnormality of visual evoked potentials, Decreased nerve conduction velo... ORPHA:309256
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Atax... OMIM:256600
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Ataxia, Anxiety, Attention deficit hyperactivity disorder, Depression, Difficulty walking OMIM:619191
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Abnormal electroretinogram, Rod-cone dystrophy, Attenuat... OMIM:613809
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Gait disturbance, Abnormal auditory evoked potentials, Abnormal amplitude of patte... OMIM:125250
Ceroid Lipofuscinosis, Neuronal, 1
Optic atrophy, Undetectable electroretinogram, Retinal degeneration, Decreased light- and dark-ad... OMIM:256730
Atypical Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Gait disturbance, Violent behavior, Inertia, Chorea, Oromandibular dystonia, Focal... ORPHA:216873
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Optic atrophy, Peripheral axonal neuropathy, Ataxia, Anxiety, Depression, Difficulty walking OMIM:619425
Huntington Disease-Like 2
Dystonia, Chorea, Apathy, Bradykinesia, Irritability, Anxiety, Depression OMIM:606438
Dystonia 11, Myoclonic
Writer's cramp, Agoraphobia, Torticollis, Anxiety, Depression OMIM:159900
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Anxiety, Optic disc pallor, Ataxia, Retinal thinning OMIM:618970
Canavan Disease
Optic atrophy, Abnormality of retinal pigmentation, Abnormality of visual evoked potentials ORPHA:141
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Inappropriate behavior, Chorea, Ataxia, Anxiety, Depression ORPHA:401901
Metachromatic Leukodystrophy, Juvenile Form
Optic atrophy, Dystonia, Abnormality of visual evoked potentials, Decreased nerve conduction velo... ORPHA:309263
Metachromatic Leukodystrophy, Adult Form
Optic atrophy, Dystonia, Abnormality of visual evoked potentials, Orthostatic hypotension due to ... ORPHA:309271
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Huntington Disease-Like 1
Dysmetria, Chorea, Aggressive behavior, Unsteady gait, Anxiety, Depression OMIM:603218
Sorsby Fundus Dystrophy
Macular dystrophy, Abnormal electroretinogram OMIM:136900
Ceroid Lipofuscinosis, Neuronal, 2
Ataxia, Undetectable electroretinogram, Retinal degeneration OMIM:204500
Dystonia 12
Dystonia, Torticollis, Bradykinesia, Emotional lability, Unsteady gait, Anxiety, Depression OMIM:128235
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Optic disc pallor, Undetectable electroretinogram, Ataxia, Inability to walk, Unsteady gait, Gait... ORPHA:1947
Retinitis Pigmentosa 50
Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Retinal detachment, Abnormal electroretino... OMIM:613194
Leber Congenital Amaurosis 14
Optic disc pallor, Undetectable electroretinogram, Decreased light- and dark-adapted electroretin... OMIM:613341
Oculocutaneous Albinism Type 1
Abnormality of visual evoked potentials, Hypoplasia of the fovea, Abnormal morphology of the chor... ORPHA:352731
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity OMIM:619031
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Paroxysmal dystonia, Anxiety, Paroxysmal choreoathetosis OMIM:602066
Achalasia-Addisonianism-Alacrima Syndrome
Optic atrophy, Abnormality of visual evoked potentials, Orthostatic hypotension, Motor axonal neu... OMIM:231550
Rapid-Onset Dystonia-Parkinsonism
Torticollis, Bradykinesia, Craniofacial dystonia, Emotional lability, Anxiety, Gait ataxia, Depre... ORPHA:71517
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Abnormal electroretinogram ORPHA:1574
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormality of visual evoked potentials OMIM:617523
Early-Onset X-Linked Optic Atrophy
Optic atrophy, Optic disc pallor, Choreoathetosis, Decreased nerve conduction velocity, Emotional... ORPHA:98890
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Dystonia, Optic atrophy, Abnormality of visual evoked potentials, Abnormal electroretinogram OMIM:616875
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Bradykinesia, Decreased amplitude of sensory action po... OMIM:619279
Retinal Cone Dystrophy 1
Abnormal electroretinogram, Bull's eye maculopathy, Retinal degeneration, Cone/cone-rod dystrophy OMIM:180020
Optic Atrophy With Demyelinating Disease Of Cns
Optic atrophy, Peripheral demyelination, Ataxia, Optic neuritis OMIM:165200
Krabbe Disease
Abnormal flash visual evoked potentials, Optic atrophy, Peripheral demyelination, Decreased nerve... OMIM:245200
Retinitis Pigmentosa 54
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Abnormal electroretinogram, Fundus a... OMIM:613428
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inappropriate behavior, Apathy, Bradykinesia, Shuffling gait, Falls, Short stepped shuffling gait... ORPHA:412066
White-Sutton Syndrome
Optic atrophy, Abnormality of visual evoked potentials, Self-injurious behavior, Rod-cone dystrop... OMIM:616364
Spinocerebellar Ataxia 12
Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Anxiety, Depression OMIM:604326
Bothnia Retinal Dystrophy
Retinal dystrophy, Abnormal electroretinogram, Macular degeneration OMIM:607475
Retinitis Pigmentosa 32
Pigmentary retinopathy, Photoreceptor layer loss on macular OCT, Optic disc pallor, Retinal degen... OMIM:609913
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials OMIM:609304
Xq12-Q13.3 Duplication Syndrome
Optic disc pallor, Impaired pain sensation, Abnormality of visual evoked potentials ORPHA:314389
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e... OMIM:601718
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials ORPHA:1389
Usher Syndrome Type 3
Ataxia, Anxiety, Abnormal electroretinogram, Depression ORPHA:231183
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Optic atrophy, Abnormality of visual evoked potentials, Dystonic gait ORPHA:480898
Infantile Krabbe Disease
Optic atrophy, Inappropriate crying, Abnormality of visual evoked potentials, Cherry red spot of ... ORPHA:206436
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Undetectable visual evoked potentials, Patchy atrophy of the retinal pigment epithelium, Rod-cone... ORPHA:436245
Joubert Syndrome 25
Ataxia, Abnormal electroretinogram OMIM:616781
Cerebrotendinous Xanthomatosis
Optic atrophy, Optic neuropathy, Abnormal auditory evoked potentials, Optic disc pallor, Abnormal... ORPHA:909
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Undetectable visual evoked potentials, Limb ataxia, Truncal ataxia OMIM:619051
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Anxiety, Depression, Bradykinesia OMIM:605909
Spinocerebellar Ataxia 48
Dystonia, Dysmetria, Chorea, Ataxia, Irritability, Anxiety, Gait ataxia, Depression OMIM:618093
Posterior Column Ataxia With Retinitis Pigmentosa
Impaired proprioception, Optic atrophy, Attenuation of retinal blood vessels, Undetectable electr... OMIM:609033
Primary Non-Essential Cutis Verticis Gyrata
Abnormality of pattern visual evoked potentials ORPHA:357225
Metachromatic Leukodystrophy
Dystonia, Gait disturbance, Abnormality of visual evoked potentials, Decreased nerve conduction v... ORPHA:512
Usher Syndrome Type 1
Ataxia, Anxiety, Abnormal electroretinogram, Depression ORPHA:231169
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormal electrooculogram, Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Retinoschisis Of Fovea
Foveoschisis, Macular dystrophy, Abnormal electroretinogram, Rod-cone dystrophy OMIM:268080
Peho Syndrome
Peripheral dysmyelination, Optic atrophy, Undetectable visual evoked potentials OMIM:260565
Progressive Cone Dystrophy
Abnormality of retinal pigmentation, Abnormal electroretinogram ORPHA:1871
Retinitis Pigmentosa 27
Macular atrophy, Undetectable electroretinogram, Peripapillary chorioretinal atrophy, Macular ede... OMIM:613750
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Optic disc pallor, Decreased nerve conduction velocity, Abnormality of visual evok... ORPHA:485421
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Abnormal electroretinogram, Retinal degeneration OMIM:616211
Retinitis Pigmentosa 7
Attenuation of retinal blood vessels, Rod-cone dystrophy, Abnormal electroretinogram, Chorioretin... OMIM:608133
Basal Ganglia Calcification, Idiopathic, 5
Athetosis, Chorea, Apathy, Anxiety, Depression OMIM:615483
Autosomal Recessive Spastic Paraplegia Type 11
Gait disturbance, Peripheral axonal neuropathy, Retinal degeneration, Orthostatic hypotension, At... ORPHA:2822
Blue Cone Monochromatism
Abnormality of retinal pigmentation, Abnormal electroretinogram ORPHA:16
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Undetectable visual evoked potentials, Chorioretinal coloboma ORPHA:163961
Oculocutaneous Albinism Type 1A
Abnormality of the optic nerve, Abnormality of visual evoked potentials, Hypoplasia of the fovea,... ORPHA:79431
Leukoencephalopathy With Ataxia
Optic neuropathy, Abnormal chorioretinal morphology, Limb ataxia, Gait ataxia OMIM:615651
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Undetectable electroretinogram, Rod-cone dystrophy, Pigmenta... OMIM:615780
Rolandic Epilepsy
Paresthesia, Dysesthesia, Emotional lability, Anxiety, Attention deficit hyperactivity disorder, ... ORPHA:1945
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dystonia, Dysmetria, Aggressive behavior, Axonal degeneration, Bradykinesia, Ataxia, Dysdiadochok... OMIM:615157
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Hyperactivity, Irrit... ORPHA:3077
Ruvalcaba Syndrome
Abnormality of visual evoked potentials, Abnormal electroretinogram ORPHA:3121
Retinitis Pigmentosa 4
Abnormal electroretinogram, Rod-cone dystrophy, Pigmentary retinopathy OMIM:613731
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
Abnormality of visual evoked potentials OMIM:614457
Micro Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Abnormality of visual evoked potentials, Reti... ORPHA:2510
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Optic disc pallor, Retinal dystrophy, Aplasia/Hypoplasia of the optic nerve, Macular coloboma, Un... ORPHA:423479
Dystonia 26, Myoclonic
Torticollis, Blepharospasm, Laryngeal dystonia, Anxiety, Depression OMIM:616398
Oligocone Trichromacy
Abnormal electroretinogram ORPHA:75378
Mogs-Cdg
Dystonia, Optic atrophy, Abnormality of visual evoked potentials, Absent brainstem auditory respo... ORPHA:79330
Ă…land Islands Eye Disease
Abnormal electroretinogram, Hypopigmentation of the fundus, Hypoplasia of the fovea ORPHA:178333
Mpdu1-Cdg
Undetectable visual evoked potentials, Optic atrophy ORPHA:79323
Cerebellar Ataxia-Hypogonadism Syndrome
Ataxia, Optic atrophy, Abnormality of retinal pigmentation, Abnormal electroretinogram ORPHA:1173
Leber Optic Atrophy
Leber optic atrophy, Optic atrophy, Optic neuropathy, Dystonia, Ataxia, Central retinal vessel va... OMIM:535000
Vitreoretinopathy, Neovascular Inflammatory
Vitreoretinopathy, Large hyperpigmented retinal spots, Peripheral retinal neovascularization, Ret... OMIM:193235
Night Blindness, Congenital Stationary, Type 1C
Abnormal electroretinogram, Congenital stationary night blindness OMIM:613216
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Ataxia, Abnormality of visual evoked potentials OMIM:203700
Cockayne Syndrome A
Peripheral dysmyelination, Optic atrophy, Gait disturbance, Abnormal peripheral myelination, Abno... OMIM:216400
Choroideremia
Abnormality of retinal pigmentation, Abnormal electroretinogram ORPHA:180
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Dystonia, Anxiety, Chorea OMIM:606703
Intellectual Developmental Disorder With Cardiac Arrhythmia
Abnormal electroretinogram, Retinal degeneration OMIM:617173
Gm2 Gangliosidosis, Ab Variant
Dystonia, Abnormal fear/anxiety-related behavior, Inappropriate behavior, Cherry red spot of the ... ORPHA:309246
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormal electroretinogram, Retinal degeneration, Abnormality of pattern visual evoked potentials... ORPHA:166035
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormal electroretinogram, Abnormality of retinal pigmentation, Facial palsy ORPHA:2743
Perry Syndrome
Dystonia, Inappropriate behavior, Suicidal ideation, Apathy, Bradykinesia, Short stepped shufflin... OMIM:168605
Multiple System Atrophy, Cerebellar Type
Orthostatic hypotension due to autonomic dysfunction, Axial dystonia, Apathy, Bradykinesia, Progr... ORPHA:227510
Multiple System Atrophy, Parkinsonian Type
Orthostatic hypotension due to autonomic dysfunction, Axial dystonia, Apathy, Bradykinesia, Progr... ORPHA:98933
Warburg Micro Syndrome 2
Undetectable visual evoked potentials, Optic atrophy OMIM:614225
Early-Onset Schizophrenia
Unhappy demeanor, Low self esteem, Suicidal ideation, Irritability, Anhedonia, Emotional lability... ORPHA:96369
Dentatorubral Pallidoluysian Atrophy
Impaired proprioception, Optic neuropathy, Dyssynergia, Choreoathetosis, Dysmetria, Oromandibular... ORPHA:101
Cockayne Syndrome B
Peripheral dysmyelination, Optic atrophy, Abnormal peripheral myelination, Abnormal auditory evok... OMIM:133540
Choreoacanthocytosis
Dystonia, Progressive choreoathetosis, Aggressive behavior, Self-mutilation of tongue and lips du... OMIM:200150
Retinitis Pigmentosa 43
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:613810
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormality of the optic disc, Abnormal electroretinogram ORPHA:65
Retinitis Pigmentosa 41
Pigmentary retinopathy, Optic disc pallor, Undetectable electroretinogram, Bone spicule pigmentat... OMIM:612095
Burning Mouth Syndrome
Impaired temperature sensation, Abnormality of somatosensory evoked potentials, Abnormal fifth cr... ORPHA:353253
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Inability to walk, Abnormality of visual evoked potentials, Facial palsy ORPHA:258
Retinitis Pigmentosa 25
Optic disc pallor, Undetectable electroretinogram, Bone spicule pigmentation of the retina, Rod-c... OMIM:602772
Machado-Joseph Disease
Dystonia, Abnormal electrooculogram, Bradykinesia, Progressive cerebellar ataxia, Ataxia, Impaire... OMIM:109150
Mucolipidosis Type Iv
Gait disturbance, Abnormality of retinal pigmentation, Ataxia, Abnormal electroretinogram, Retino... ORPHA:578
Parkinson Disease 7, Autosomal Recessive Early-Onset
Anxiety, Leg dystonia, Blepharospasm, Bradykinesia OMIM:606324
Usher Syndrome Type 2
Ataxia, Anxiety, Abnormal electroretinogram, Depression ORPHA:231178
Mitochondrial Complex I Deficiency, Nuclear Type 1
Optic neuropathy, Optic disc pallor, Ataxia, Undetectable visual evoked potentials, Lethargy OMIM:252010
Hermansky-Pudlak Syndrome
Abnormality of the optic nerve, Abnormality of visual evoked potentials, Ocular albinism ORPHA:79430
Retinitis Pigmentosa
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Abnormal electroretino... ORPHA:791
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
Optic atrophy, Abnormal electroretinogram ORPHA:1154
Joubert Syndrome 3
Ataxia, Retinal dystrophy, Abnormal electroretinogram, Pigmentary retinopathy OMIM:608629
Retinitis Pigmentosa 14
Optic disc pallor, Undetectable electroretinogram, Bone spicule pigmentation of the retina, Rod-c... OMIM:600132
Mohr-Tranebjaerg Syndrome
Dystonia, Abnormal electroretinogram OMIM:304700
Leigh Syndrome With Nephrotic Syndrome
Undetectable visual evoked potentials ORPHA:255249
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Abnormal electroretino... ORPHA:1390
Stiff Person Spectrum Disorder
Agoraphobia, Falls, Emotional lability, Anxiety, Difficulty walking ORPHA:3198
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Abnormal electroretinogram ORPHA:1369
Severe Early-Childhood-Onset Retinal Dystrophy
Rhegmatogenous retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Granul... ORPHA:364055
Cone-Rod Dystrophy 2
Macular hyperpigmentation, Bone spicule pigmentation of the retina, Retinal pigment epithelial at... OMIM:120970
Van Den Bosch Syndrome
Abnormal electroretinogram, Choroideremia ORPHA:3417
Acute Zonal Occult Outer Retinopathy
Vitreous inflammatory cells, Macular drusen, Abnormal fundus fluorescein angiography, Retinal pig... ORPHA:284454
Autosomal Recessive Malignant Osteopetrosis
Optic nerve compression, Abnormality of visual evoked potentials ORPHA:667
Usher Syndrome
Abnormality of retinal pigmentation, Ataxia, Abnormal electroretinogram, Anxiety, Depression ORPHA:886
Porphyria Due To Ala Dehydratase Deficiency
Abnormal fear/anxiety-related behavior, Apathy, Anxiety, Depression, Difficulty walking ORPHA:100924
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Abnormality of retinal pigmentation, Abnormal electroretinogram, Retinopathy, Chorioretinal atrop... ORPHA:5
Enhanced S-Cone Syndrome
Undetectable electroretinogram, Vitreoretinopathy, Macular edema, Pigmentary retinopathy, Retinos... OMIM:268100
Peroxisome Biogenesis Disorder 3B
Retinal dystrophy, Abnormal electroretinogram, Rod-cone dystrophy OMIM:266510
Arthrogryposis, Distal, Type 5
Abnormality of retinal pigmentation, Abnormal electroretinogram OMIM:108145
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Optic atrophy, Undetectable electroretinogram, Retinal degeneration, Retinal dysplasia, Decreased... OMIM:253280
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Abnormal electroretinogram OMIM:614195
Maternal Uniparental Disomy Of Chromosome 6
Abnormal electroretinogram, Rod-cone dystrophy ORPHA:96181
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Abnormal electroretinogram, Retinal degeneration ORPHA:542306
Cockayne Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Optic disc pallor, Peripheral axonal neuropat... ORPHA:191
Bardet-Biedl Syndrome
Abnormal electroretinogram, Pigmentary retinopathy ORPHA:110
Peroxisome Biogenesis Disorder 1A (Zellweger)
Optic disc pallor, Abnormal electroretinogram, Pigmentary retinopathy OMIM:214100
Neurofibromatosis Type 1
Abnormality of retinal pigmentation, Chorioretinal coloboma, Plexiform neurofibroma, Spinal neuro... ORPHA:636
Degcags Syndrome
Abnormal electroretinogram OMIM:619488

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 Olfm2

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 Olfm2.

No publications found that use IMPC mice or data for Olfm2.

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MGI Allele Allele Type Produced
Olfm2tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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