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Gene: Opn4 MGI:1353425

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
opsin 4 (melanopsin)
Synonyms:
1110007J02Rik

Order Alleles

IMPC Data Collections

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

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.

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 Opn4 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 Opn4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spinocerebellar Ataxia Type 11
Horizontal nystagmus, Dystonia, Progressive cerebellar ataxia, Gait imbalance, Jerky ocular pursu... ORPHA:98767
Spinocerebellar Ataxia 15
Postural tremor, Impaired smooth pursuit, Gaze-evoked horizontal nystagmus, Limb ataxia, Gait ata... OMIM:606658
Leukodystrophy, Hypomyelinating, 16
Nystagmus, Horizontal nystagmus, Rotary nystagmus, Gaze-evoked nystagmus, Optic disc pallor, Broa... OMIM:617964
Dystonia 34, Myoclonic
Rotary nystagmus, Torticollis, Impaired smooth pursuit, Writer's cramp, Hypermetric saccades, Imp... OMIM:619724
Spinocerebellar Ataxia, Autosomal Recessive 14
Nystagmus, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Jerky ocular pursuit moveme... OMIM:615386
Spinocerebellar Ataxia 11
Nystagmus, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Jerky ocular ... OMIM:604432
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Nystagmus, Ataxia, Gaze-evoked horizontal nystagmus, Unsteady gait, Limb ataxia, Abnormality of o... ORPHA:284271
Spinocerebellar Ataxia, Autosomal Recessive 28
Impaired smooth pursuit, Truncal titubation, Gaze-evoked horizontal nystagmus, Optic atrophy, Gai... OMIM:618800
Spinocerebellar Ataxia 27A
Upbeat nystagmus, Absent smooth pursuit, Gaze-evoked nystagmus, Impaired smooth pursuit, Postural... OMIM:193003
Spinocerebellar Ataxia 26
Nystagmus, Impaired horizontal smooth pursuit, Limb ataxia, Gait ataxia, Truncal ataxia, Dysmetri... OMIM:609306
Spinocerebellar Ataxia 19
Nystagmus, Postural tremor, Gaze-evoked horizontal nystagmus, Saccadic smooth pursuit, Gait ataxi... OMIM:607346
Spinocerebellar Ataxia 5
Rotary nystagmus, Broad-based gait, Gaze-evoked nystagmus, Impaired smooth pursuit, Ataxia, Dysme... OMIM:600224
Spinocerebellar Ataxia 8
Nystagmus, Impaired smooth pursuit, Tremor, Progressive cerebellar ataxia, Slow saccadic eye move... OMIM:608768
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Rubcn Deficiency
Nystagmus, Limb ataxia, Saccadic smooth pursuit, Gait ataxia ORPHA:404499
Spinocerebellar Ataxia, Autosomal Recessive 15
Nystagmus, Ataxia, Unsteady gait, Saccadic smooth pursuit, Gait ataxia OMIM:615705
Ataxia-Telangiectasia-Like Disorder 1
Gaze-evoked nystagmus, Impaired smooth pursuit, Ataxia, Unsteady gait, Dysmetria, Gait ataxia, Ch... OMIM:604391
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Nystagmus, Horizontal nystagmus, Dysmetria, Strabismus, Progressive cerebellar ataxia, Dysdiadoch... ORPHA:352403
Spinocerebellar Ataxia 46
Nystagmus, Dysmetria, Gait ataxia, Limb ataxia, Slow saccadic eye movements, Jerky ocular pursuit... OMIM:617770
X-Linked Non Progressive Cerebellar Ataxia
Unsteady gait, Saccadic smooth pursuit, Strabismus, Nonprogressive cerebellar ataxia, Truncal ata... ORPHA:314978
Spinocerebellar Ataxia, Autosomal Recessive 11
Ataxia, Impaired smooth pursuit, Gaze-evoked horizontal nystagmus, Limb ataxia, Gait disturbance,... OMIM:614229
Spinocerebellar Ataxia 13
Nystagmus, Optic atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Jerky ocular p... OMIM:605259
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Intention tremor, Optic atrophy, Saccadic smooth pursuit, Gait ataxia OMIM:620221
Spinocerebellar Ataxia Type 26
Nystagmus, Impaired horizontal smooth pursuit, Limb ataxia, Progressive cerebellar ataxia, Progre... ORPHA:101112
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Horizontal nystagmus, Broad-based gait, Postural tremor, Saccadic smooth pursuit, Dysmetria, Limb... ORPHA:284324
Acute Zonal Occult Outer Retinopathy
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... ORPHA:284454
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Nystagmus, Decreased distal sensory nerve action potential, Gaze-evoked nystagmus, Ataxia, Vestib... OMIM:614575
Spinocerebellar Ataxia 34
Nystagmus, Ataxia, Impaired smooth pursuit, Limb ataxia, Gait ataxia, Dysdiadochokinesis, Supranu... OMIM:133190
Spinocerebellar Ataxia, Autosomal Recessive 8
Nystagmus, Optic atrophy, Dysmetria, Gait ataxia, Strabismus, Limb ataxia, Abnormal autonomic ner... OMIM:610743
Spinocerebellar Ataxia Type 19/22
Nystagmus, Broad-based gait, Ataxia, Impaired smooth pursuit, Ophthalmoplegia, Limb ataxia, Diffi... ORPHA:98772
Spinocerebellar Ataxia, Autosomal Recessive 2
Nystagmus, Gaze-evoked nystagmus, Ataxia, Tremor, Unsteady gait, Saccadic smooth pursuit, Gait at... OMIM:213200
Spinocerebellar Ataxia Type 14
Gaze-evoked nystagmus, Tremor, Limb ataxia, Saccadic smooth pursuit, Gait ataxia, Progressive cer... ORPHA:98763
Leukodystrophy, Hypomyelinating, 9
Nystagmus, Absent smooth pursuit, Rotary nystagmus, Ataxia, Dysmetria, Dystonia, Pendular nystagm... OMIM:616140
Spinocerebellar Ataxia 6
Nystagmus, Ataxia, Impaired smooth pursuit, Gaze-evoked horizontal nystagmus, Dysmetria, Progress... OMIM:183086
Spinocerebellar Ataxia, Autosomal Recessive 32
Torticollis, Gaze-evoked nystagmus, Postural tremor, Hypermetric saccades, Saccadic smooth pursui... OMIM:619862
X-Linked Progressive Cerebellar Ataxia
Nystagmus, Unsteady gait, Saccadic smooth pursuit, Dysmetria, Limb ataxia, Progressive cerebellar... ORPHA:1175
Spinocerebellar Ataxia Type 10
Nystagmus, Gaze-evoked nystagmus, Impaired smooth pursuit, Kinetic tremor, Unsteady gait, Dysmetr... ORPHA:98761
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Gaze-evoked nystagmus, Impaired smooth pursuit, Ataxia, Akinesia, Gait ataxia, Ma... ORPHA:247234
Spinocerebellar Ataxia 4
Progressive cerebellar ataxia, Limb dysmetria, Impaired smooth pursuit OMIM:600223
Ataxia-Telangiectasia-Like Disorder
Gaze-evoked nystagmus, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Slow saccadic eye move... ORPHA:251347
Spinocerebellar Ataxia 2
Gaze-evoked nystagmus, Ataxia, Postural tremor, Ophthalmoplegia, Unsteady gait, Impaired horizont... OMIM:183090
Spinocerebellar Ataxia, Autosomal Recessive 26
Horizontal nystagmus, Unsteady gait, Hypermetric saccades, Saccadic smooth pursuit, Dysmetria, Ga... OMIM:617633
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Horizontal nystagmus, Saccadic smooth pursuit, Downbeat nystagmus, Dysmetria, Macular degeneratio... ORPHA:284289
Dystonia 30
Torticollis, Writer's cramp, Oromandibular dystonia, Leg dystonia, Arm dystonia, Hypothalamic ham... OMIM:619291
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased motor nerve conduction velocity, Nystagmus, Progressive truncal ataxia, Spastic ataxia,... OMIM:270550
Peroxisome Biogenesis Disorder 6B
Nystagmus, Retinal dystrophy, Impaired smooth pursuit, Ataxia, Unsteady gait, Limb ataxia, Gait a... OMIM:614871
Spinocerebellar Ataxia, Autosomal Recessive 27
Spastic ataxia, Torticollis, Gaze-evoked nystagmus, Hypermetric saccades, Gait ataxia, Gait distu... OMIM:618369
Cerebral Visual Impairment
Nystagmus, Optic disc pallor, Impaired smooth pursuit, Optic nerve hypoplasia, Optic atrophy, Ret... ORPHA:447788
Spinocerebellar Ataxia 36
Nystagmus, Ataxia, Impaired smooth pursuit, Limb ataxia, Gait ataxia, Vertical supranuclear gaze ... OMIM:614153
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Optic atrophy, Saccadic smooth pursuit, Gait ataxia, Progressive cerebellar ataxia, Dysmetric sac... ORPHA:466794
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Gaze-evoked nystagmus, Ataxia, Postural tremor, Tremor, Optic atrophy, Dysmetria, Vertical supran... OMIM:607694
Neuroferritinopathy
Resting tremor, Impaired smooth pursuit, Writer's cramp, T2 hypointense thalamus, Abnormal thalam... ORPHA:157846
Spinocerebellar Ataxia 1
Decreased motor nerve conduction velocity, Nystagmus, Optic disc pallor, Gaze-evoked nystagmus, O... OMIM:164400
Spinocerebellar Ataxia 10
Nystagmus, Impaired smooth pursuit, Decreased nerve conduction velocity, Dysmetria, Gait ataxia, ... OMIM:603516
Spinocerebellar Ataxia, Autosomal Recessive 7
Nystagmus, Ataxia, Postural tremor, Truncal titubation, Unsteady gait, Hypermetric saccades, Sacc... OMIM:609270
Spinocerebellar Ataxia 21
Nystagmus, Microsaccadic pursuit, Ataxia, Postural tremor, Akinesia, Hypermetric saccades, Gait a... OMIM:607454
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Impaired smooth pursuit, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Tru... ORPHA:247815
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Nystagmus, Absent smooth pursuit, Ataxia, Dysmetria, Difficulty walking, Dystonia, Intention tremor ORPHA:438114
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Horizontal nystagmus, Ataxia, Tremor, Optic atrophy, Impaired horizontal smooth pursuit, Dysmetri... OMIM:614381
Cherubism
Macular scar, Marcus Gunn pupil, Optic neuropathy OMIM:118400
Autosomal Recessive Ataxia, Beauce Type
Abnormal saccadic eye movements, Ataxia, Impaired smooth pursuit, Dysmetria, Ophthalmoparesis, St... ORPHA:88644
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Nystagmus, Optic atrophy, Progressive cerebellar ataxia, Progressive gait ataxia, Jerky ocular pu... ORPHA:1177
Spinocerebellar Ataxia 42
Spastic ataxia, Horizontal nystagmus, Ataxia, Tremor, Unsteady gait, Saccadic smooth pursuit, Spa... OMIM:616795
Machado-Joseph Disease
Dystonia, Gaze-evoked nystagmus, Ataxia, External ophthalmoplegia, Impaired horizontal smooth pur... OMIM:109150
Episodic Ataxia Type 4
Abnormality of ocular smooth pursuit, Gaze-evoked nystagmus, Ataxia ORPHA:79136
Autosomal Recessive Spastic Paraplegia Type 15
Nystagmus, Saccadic smooth pursuit, Hand tremor, Pigmentary retinopathy, Retinal flecks, Yellow/w... ORPHA:100996
Primary Lateral Sclerosis, Juvenile
Decreased compound muscle action potential amplitude, Saccadic smooth pursuit, Abnormal upper mot... OMIM:606353
Dentatorubral Pallidoluysian Atrophy
Nystagmus, Ataxia, Optic neuropathy, Dyssynergia, Dysmetria, Saccadic smooth pursuit, Ophthalmopa... ORPHA:101
Spinocerebellar Ataxia 17
Broad-based gait, Ataxia, Gaze-evoked nystagmus, Impaired pursuit initiation and maintenance, Dys... OMIM:607136
Episodic Ataxia, Type 2
Gaze-evoked nystagmus, Saccadic smooth pursuit, Downbeat nystagmus, Progressive cerebellar ataxia... OMIM:108500
Spinocerebellar Ataxia Type 8
Nystagmus, Ataxia, Impaired smooth pursuit, Unsteady gait, Limb ataxia, Gait ataxia, Dystonia ORPHA:98760
Huntington Disease-Like 1
Nystagmus, Abnormal saccadic eye movements, Dysmetria, Gait ataxia, Slow saccadic eye movements, ... ORPHA:157941
Episodic Ataxia, Type 4
Episodic ataxia, Abnormality of ocular smooth pursuit, Gaze-evoked nystagmus, Esophoria OMIM:606552
Tremor-Ataxia-Central Hypomyelination Syndrome
Nystagmus, Ataxia, Postural tremor, Optic atrophy, Dysmetria, Vertical supranuclear gaze palsy, A... ORPHA:447896
Spinocerebellar Ataxia Type 21
Nystagmus, Akinesia, Tremor, Gait ataxia, Progressive cerebellar ataxia, Intermittent microsaccad... ORPHA:98773
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Horizontal nystagmus, Nystagmus, Retinal atrophy, Gaze-evoked nystagmus, Postural tremor, Ophthal... ORPHA:412057
Spastic Paraplegia 46, Autosomal Recessive
Nystagmus, Hand tremor, Jerky ocular pursuit movements, Head tremor, Upper limb dysmetria, Limb d... OMIM:614409
Joubert Syndrome 2
Nystagmus, Abnormal saccadic eye movements, Rotary nystagmus, Retinal dystrophy, Impaired smooth ... OMIM:608091
Spastic Paraplegia 85, Autosomal Recessive
Torticollis, Optic atrophy, Saccadic smooth pursuit OMIM:619686
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Spastic ataxia, Nystagmus, Tremor, Unsteady gait, Optic atrophy, Impaired pursuit initiation and ... ORPHA:137898
Autosomal Recessive Spastic Paraplegia Type 46
Nystagmus, Broad-based gait, Ataxia, Jerky ocular pursuit movements, Truncal ataxia, Difficulty w... ORPHA:320391
Spinocerebellar Ataxia Type 13
Nystagmus, Optic disc pallor, Torticollis, Optic atrophy, Upgaze palsy, Gait ataxia, Limb ataxia,... ORPHA:98768
Pontocerebellar Hypoplasia, Type 2A
Dystonia, Optic atrophy, Impaired smooth pursuit, Opisthotonus OMIM:277470
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Gaze-evoked nystagmus, Ataxia, Postural tremor, Saccadic smooth pursuit, Strabismus, Choreoatheto... ORPHA:64753
Developmental And Epileptic Encephalopathy 4
Choreoathetosis, Tremor, Impaired horizontal smooth pursuit OMIM:612164
Joubert Syndrome 1
Optic disc pallor, Abnormal saccadic eye movements, Retinal dystrophy, Impaired smooth pursuit, A... OMIM:213300
Primary Progressive Freezing Gait
Postural tremor, Impaired smooth pursuit, Shuffling gait, Difficulty walking, Gait imbalance ORPHA:75567
Leptin Receptor Deficiency
Abnormal hypothalamus morphology, Pituitary hypothyroidism, Decreased response to growth hormone ... OMIM:614963
Wars2-Related Combined Oxidative Phosphorylation Defect
Nystagmus, Ataxia, Impaired smooth pursuit, Tremor, Dysmetria, Athetosis, Difficulty walking, Lim... ORPHA:572798
Spinocerebellar Ataxia Type 42
Nystagmus, Resting tremor, Upper limb postural tremor, Gaze-evoked horizontal nystagmus, Unsteady... ORPHA:458803
Neurodegeneration With Brain Iron Accumulation 2B
Nystagmus, Impaired smooth pursuit, Optic atrophy, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dy... OMIM:610217
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Strabismus, Nystagmus, Impaired smooth pursuit, Inability to walk ORPHA:488613
Leber Congenital Amaurosis 15
Nystagmus, Optic disc pallor, Impaired smooth pursuit, Pigmentary retinopathy, Peripapillary atro... OMIM:613843
Gerstmann-Straussler Disease
Impaired smooth pursuit, Tremor, Limb ataxia, Gait ataxia, Truncal ataxia OMIM:137440
Pantothenate Kinase-Associated Neurodegeneration
Dystonia, Bull's eye maculopathy, Impaired convergence, Optic atrophy, Craniofacial dystonia, Sac... ORPHA:157850
Fragile X Tremor/Ataxia Syndrome
Nystagmus, Resting tremor, Postural tremor, Action tremor, Saccadic smooth pursuit, Gait ataxia, ... OMIM:300623
Stt3A-Cdg
Impaired smooth pursuit ORPHA:370921
Pyruvate Dehydrogenase E1-Beta Deficiency
Ataxia, Impaired smooth pursuit ORPHA:255138
Mannosidosis, Alpha B, Lysosomal
Nystagmus, Impaired smooth pursuit, Limb ataxia, Gait ataxia, Retinal degeneration OMIM:248500
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Nystagmus, Absent smooth pursuit, Ataxia, Inability to walk, Optic atrophy, Strabismus OMIM:617193
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Strabismus, Absent smooth pursuit, Optic atrophy ORPHA:329178
Short Stature, Microcephaly, And Endocrine Dysfunction
Nystagmus, Broad-based gait, Ataxia, Impaired smooth pursuit, Dysmetria, Dysdiadochokinesis, Gait... OMIM:616541
Leukoencephalopathy With Dystonia And Motor Neuropathy
Decreased motor nerve conduction velocity, Torticollis, Focal T2 hyperintense thalamic lesion, Sl... OMIM:613724
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Decreased motor nerve conduction velocity, Nystagmus, Gaze-evoked nystagmus, Tremor, Saccadic smo... OMIM:606002
Trichothiodystrophy 8, Nonphotosensitive
Head titubation, Craniofacial dystonia, Jerky ocular pursuit movements, Esodeviation OMIM:619691
Spinocerebellar Ataxia With Epilepsy
Gaze-evoked nystagmus, Tremor, Optic atrophy, Dysmetria, Ophthalmoparesis, Gait ataxia, Progressi... ORPHA:254881
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Nystagmus, Generalized dystonia, Limb ataxia, Thalamic calcification, Limb dystonia OMIM:618824
Autosomal Recessive Spastic Paraplegia Type 11
Nystagmus, Orthostatic hypotension, Ataxia, Inability to walk, Saccadic smooth pursuit, Strabismu... ORPHA:2822
Lissencephaly Due To Lis1 Mutation
Impaired smooth pursuit, Opisthotonus ORPHA:95232
Intellectual Developmental Disorder, Autosomal Dominant 42
Nystagmus, Dystonia, Impaired smooth pursuit, Inability to walk, Strabismus, Abnormality of ocula... OMIM:616973
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Absent smooth pursuit, Optic atrophy, Ataxia, Dystonia ORPHA:496641
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Ataxia, Dysmetria, Thalamic calcification, Dystonia, Hypometric saccades OMIM:618317
7Q11.23 Microduplication Syndrome
Impaired smooth pursuit, Unsteady gait, Dysmetria, Strabismus, Abnormal optic disc morphology, Ex... ORPHA:96121
Craniopharyngioma
Enlarged pituitary gland, Papilledema, Neoplasm of the anterior pituitary, Pituitary hypothyroidi... ORPHA:54595
Coasy Protein-Associated Neurodegeneration
Oromandibular dystonia, Abnormal thalamus morphology, Difficulty walking ORPHA:397725
Basal Ganglia Calcification, Idiopathic, 5
Athetosis, Postural tremor, Thalamic calcification, Hand tremor OMIM:615483
Tubulinopathy-Associated Dysgyria
Ataxia, Strabismus, Abnormal involuntary eye movements, Oculomotor apraxia, Abnormal thalamus mor... ORPHA:467166
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Strabismus, Interhypothalamic adhesion OMIM:618929
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Congenital stationary night blindness, Abnormal pituitary gland... ORPHA:314621
Combined Oxidative Phosphorylation Defect Type 7
Nystagmus, Ataxia, Inability to walk, Ophthalmoplegia, Optic atrophy, Abnormal thalamic MRI signa... ORPHA:254930
Aceruloplasminemia
Nystagmus, Abnormality of retinal pigmentation, Torticollis, Ataxia, Akinesia, Tremor, Craniofaci... ORPHA:48818
Central Precocious Puberty In Male
Pituitary microadenoma, Hypothalamic hamartoma ORPHA:649929
Amoebiasis Due To Free-Living Amoebae
Oculomotor nerve palsy, Ataxia, Facial palsy, Abnormal hypothalamus morphology ORPHA:68
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Fusion of the left and right thalami, Horizontal supranuclear gaze palsy, Unsteady gait OMIM:617542
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Nystagmus, Abnormal saccadic eye movements, Torticollis, Optic nerve hypoplasia, ... ORPHA:300570
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic disc pallor, External ophthalmoplegia, Decreased nerve conduction velocity, Optic atrophy, ... ORPHA:485421
Familial Acute Necrotizing Encephalopathy
Abnormal thalamus morphology, Abnormal visual fixation, Gait disturbance ORPHA:88619
Panhypophysitis
Orthostatic hypotension, Reduced circulating prolactin concentration, Adrenocorticotropic hormone... ORPHA:95513
Adenohypophysitis
Orthostatic hypotension, Reduced circulating prolactin concentration, Adrenocorticotropic hormone... ORPHA:95512
Oculocerebral Hypopigmentation Syndrome, Preus Type
Nystagmus, Abnormality of the diencephalon, Ocular albinism, Ataxia ORPHA:2720
Tay-Sachs Disease
Exaggerated startle response, Tremor, Inability to walk, Optic atrophy, Abnormal thalamic MRI sig... ORPHA:845
Japanese Encephalitis
Decreased motor nerve conduction velocity, Nystagmus, Facial palsy, Paucity of anterior horn moto... ORPHA:79139
Pallister-Hall-Like Syndrome
Anterior hypopituitarism, Hypothalamic hamartoma OMIM:241800
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Nystagmus, Abnormal thalamic MRI signal intensity, Upgaze palsy, Gait ataxia, Ophthalmoparesis ORPHA:70595
Neurodevelopmental Disorder With Language Delay And Seizures
Hypothalamic hamartoma OMIM:619908
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Strabismus, Abnormal thalamus morphology ORPHA:404440
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Abnormality of the diencephalon ORPHA:2570
Orofaciodigital Syndrome Type 6
Nystagmus, Ataxia, Tremor, Gait disturbance, Hypothalamic hamartoma, Esotropia ORPHA:2754
Oculoskeletodental Syndrome
Abnormal thalamus morphology ORPHA:557003
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormality of the diencephalon ORPHA:2165
Bickerstaff Brainstem Encephalitis
Decreased motor nerve conduction velocity, Nystagmus, Ataxia, Facial palsy, Ophthalmoplegia, Abno... ORPHA:79138
3P25.3 Microdeletion Syndrome
Abnormal thalamus morphology, Ataxia ORPHA:435638
Congenital Disorder Of Deglycosylation 2
Retinal coloboma, Hypothalamic hamartoma OMIM:619775
Hydranencephaly
Optic nerve hypoplasia, Thalamic edema, Chorioretinal atrophy, Opisthotonus, Dysgenesis of the th... ORPHA:2177
Progeria-Short Stature-Pigmented Nevi Syndrome
Broad-based gait, Abnormal thalamus morphology ORPHA:2959
Orofaciodigital Syndrome Vi
Nystagmus, Hypothalamic hamartoma, Esotropia OMIM:277170
Microphthalmia, Syndromic 3
Optic nerve hypoplasia, Optic nerve aplasia, Anterior pituitary hypoplasia, Hypothalamic hamartoma OMIM:206900
Pallister-Hall Syndrome
Panhypopituitarism, Decreased response to growth hormone stimulation test, Hypothalamic hamartoma OMIM:146510
Norrie Disease
Retinal detachment, Nystagmus, Abnormal chorioretinal morphology, Remnants of the hyaloid vascula... ORPHA:649
Orofaciodigital Syndrome I
Hypothalamic hamartoma OMIM:311200
Williams Syndrome
Ataxia, Retinal arteriolar tortuosity, Tremor, Nystagmus-induced head nodding, Dysmetria, Strabis... ORPHA:904
Pallister-Hall Syndrome
Adrenocorticotropic hormone deficiency, Gonadotropin deficiency, Pituitary hypothyroidism, Abnorm... ORPHA:672

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 Opn4

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 Opn4.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Synergistic Signaling by Light and Acetylcholine in Mouse Iris Sphincter Muscle. Current biology : CB (June 2017) Opn4tm1c(KOMP)Wtsi Opn4tm1a(KOMP)Wtsi 28578927

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MGI Allele Allele Type Produced
Opn4tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Opn4tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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