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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
Vertical nystagmus, Jerky ocular pursuit movements, Horizontal nystagmus, Difficulty walking, Gai... ORPHA:98767
Spinocerebellar Ataxia 15
Impaired smooth pursuit, Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Dysmetric sacc... OMIM:606658
Leukodystrophy, Hypomyelinating, 16
Horizontal pendular nystagmus, Shuffling gait, Broad-based gait, Gaze-evoked nystagmus, Saccadic ... OMIM:617964
Dystonia 34, Myoclonic
Duane anomaly, Hypermetric saccades, Hand tremor, Impaired smooth pursuit, Rotary nystagmus, Head... OMIM:619724
Spinocerebellar Ataxia, Autosomal Recessive 14
Jerky ocular pursuit movements, Gait ataxia, Intention tremor, Dysmetria, Hypometric saccades, Ny... OMIM:615386
Spinocerebellar Ataxia Type 26
Impaired horizontal smooth pursuit, Limb ataxia, Dysmetric saccades, Progressive gait ataxia, Nys... ORPHA:101112
Spinocerebellar Ataxia 11
Jerky ocular pursuit movements, Gait imbalance, Limb ataxia, Gait ataxia, Nystagmus, Truncal atax... OMIM:604432
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Gaze-evoked horizontal nystagmus, Limb ataxia, Abnormality of ocular smooth pursuit, Gait disturb... ORPHA:284271
Spinocerebellar Ataxia, Autosomal Recessive 28
Truncal titubation, Optic atrophy, Impaired smooth pursuit, Strabismus, Gaze-evoked horizontal ny... OMIM:618800
Spinocerebellar Ataxia 27A
Strabismus, Impaired smooth pursuit, Postural tremor, Limb ataxia, Gait ataxia, Absent smooth pur... OMIM:193003
Spinocerebellar Ataxia 26
Impaired horizontal smooth pursuit, Limb ataxia, Gait ataxia, Dysmetric saccades, Nystagmus, Trun... OMIM:609306
Spinocerebellar Ataxia 19
Saccadic smooth pursuit, Postural tremor, Limb ataxia, Gait ataxia, Gaze-evoked horizontal nystag... OMIM:607346
Spinocerebellar Ataxia 5
Broad-based gait, Gaze-evoked nystagmus, Strabismus, Rotary nystagmus, Impaired smooth pursuit, L... OMIM:600224
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Rubcn Deficiency
Saccadic smooth pursuit, Limb ataxia, Gait ataxia, Nystagmus ORPHA:404499
Spinocerebellar Ataxia, Autosomal Recessive 15
Saccadic smooth pursuit, Gait ataxia, Nystagmus, Ataxia, Unsteady gait OMIM:615705
Ataxia-Telangiectasia-Like Disorder 1
Gaze-evoked nystagmus, Impaired smooth pursuit, Gait ataxia, Dysmetria, Dystonia, Hypometric sacc... OMIM:604391
X-Linked Non Progressive Cerebellar Ataxia
Saccadic smooth pursuit, Strabismus, Action tremor, Truncal ataxia, Unsteady gait, Intention trem... ORPHA:314978
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Jerky ocular pursuit movements, Horizontal nystagmus, Strabismus, Dysmetric saccades, Intention t... ORPHA:352403
Spinocerebellar Ataxia 46
Jerky ocular pursuit movements, Limb ataxia, Gait ataxia, Dysmetria, Slow saccadic eye movements,... OMIM:617770
Spinocerebellar Ataxia, Autosomal Recessive 11
Impaired smooth pursuit, Gaze-evoked horizontal nystagmus, Limb ataxia, Gait disturbance, Ataxia,... OMIM:614229
Spinocerebellar Ataxia 8
Impaired smooth pursuit, Dysmetric saccades, Tremor, Slow saccadic eye movements, Nystagmus, Prog... OMIM:608768
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Broad-based gait, Saccadic smooth pursuit, Horizontal nystagmus, Difficulty walking, Postural tre... ORPHA:284324
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Saccadic smooth pursuit, Impaired horizontal smooth pursuit, Limb ataxia, Gait ataxia, Decreased ... OMIM:614575
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Optic atrophy, Saccadic smooth pursuit, Gait ataxia, Intention tremor OMIM:620221
Acute Zonal Occult Outer Retinopathy
Abnormal fundus fluorescein angiography, Pigmentary retinopathy, Vitreous inflammatory cells, Mar... ORPHA:284454
Spinocerebellar Ataxia 34
Dysdiadochokinesis, Impaired smooth pursuit, Limb ataxia, Gait ataxia, Supranuclear gaze palsy, N... OMIM:133190
Spinocerebellar Ataxia, Autosomal Recessive 8
Optic atrophy, Jerky ocular pursuit movements, Strabismus, Limb ataxia, Gait ataxia, Dysmetria, N... OMIM:610743
Spinocerebellar Ataxia, Autosomal Recessive 2
Saccadic smooth pursuit, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Nystagmus, Ataxia, Unsteady... OMIM:213200
Spinocerebellar Ataxia Type 19/22
Broad-based gait, Impaired smooth pursuit, Difficulty walking, Limb ataxia, Ophthalmoplegia, Nyst... ORPHA:98772
Spinocerebellar Ataxia Type 14
Saccadic smooth pursuit, Limb ataxia, Gait ataxia, Tremor, Gaze-evoked nystagmus, Progressive cer... ORPHA:98763
Spinocerebellar Ataxia 6
Impaired smooth pursuit, Gaze-evoked horizontal nystagmus, Dysmetria, Loss of ambulation, Nystagm... OMIM:183086
Leukodystrophy, Hypomyelinating, 9
Pendular nystagmus, Rotary nystagmus, Dysmetria, Absent smooth pursuit, Nystagmus, Ataxia, Dyston... OMIM:616140
Spinocerebellar Ataxia, Autosomal Recessive 32
Abnormal nerve conduction velocity, Saccadic smooth pursuit, Hypermetric saccades, Postural tremo... OMIM:619862
X-Linked Progressive Cerebellar Ataxia
Saccadic smooth pursuit, Limb ataxia, Intention tremor, Dysmetria, Progressive gait ataxia, Nysta... ORPHA:1175
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Abnormality of eye movement, Shuffling gait, Macular degeneration, Gaze-evoked nystagmus, Resting... ORPHA:247234
Spinocerebellar Ataxia Type 10
Gaze-evoked nystagmus, Impaired smooth pursuit, Gait imbalance, Gait ataxia, Intention tremor, Dy... ORPHA:98761
Spinocerebellar Ataxia 4
Impaired smooth pursuit, Limb dysmetria, Progressive cerebellar ataxia OMIM:600223
Ataxia-Telangiectasia-Like Disorder
Gaze-evoked nystagmus, Vertical nystagmus, Gait ataxia, Intention tremor, Dysmetria, Dysmetric sa... ORPHA:251347
Spinocerebellar Ataxia 2
Gaze-evoked nystagmus, Postural tremor, Limb ataxia, Dysmetric saccades, Action tremor, Dysmetria... OMIM:183090
Spinocerebellar Ataxia, Autosomal Recessive 26
Saccadic smooth pursuit, Hypermetric saccades, Horizontal nystagmus, Limb ataxia, Gait ataxia, Dy... OMIM:617633
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Saccadic smooth pursuit, Macular degeneration, Horizontal nystagmus, Limb ataxia, Dysmetric sacca... ORPHA:284289
Dystonia 30
Arm dystonia, Leg dystonia, Loss of ambulation, Hypothalamic hamartoma, Oromandibular dystonia, T... OMIM:619291
Spastic Ataxia, Charlevoix-Saguenay Type
Falls, Decreased motor nerve conduction velocity, Impaired smooth pursuit, Progressive truncal at... OMIM:270550
Peroxisome Biogenesis Disorder 6B
Impaired smooth pursuit, Limb ataxia, Gait ataxia, Dysmetric saccades, Nystagmus, Ataxia, Unstead... OMIM:614871
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Optic atrophy, Saccadic smooth pursuit, Gait ataxia, Dysmetric saccades, Intention tremor, Progre... ORPHA:466794
Spinocerebellar Ataxia, Autosomal Recessive 27
Jerky ocular pursuit movements, Hypermetric saccades, Gait imbalance, Gait ataxia, Spastic ataxia... OMIM:618369
Cerebral Visual Impairment
Abnormality of eye movement, Optic atrophy, Strabismus, Impaired smooth pursuit, Dysmetric saccad... ORPHA:447788
Spinocerebellar Ataxia 36
Vertical supranuclear gaze palsy, Impaired smooth pursuit, Limb ataxia, Gait ataxia, Slow saccadi... OMIM:614153
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Optic atrophy, Vertical supranuclear gaze palsy, Postural tremor, Dysmetria, Tremor, Loss of ambu... OMIM:607694
Neuroferritinopathy
Blepharospasm, Arm dystonia, Resting tremor, Impaired smooth pursuit, Difficulty walking, Leg dys... ORPHA:157846
Spinocerebellar Ataxia 1
Optic atrophy, Gaze-evoked nystagmus, Decreased motor nerve conduction velocity, Decreased amplit... OMIM:164400
Spinocerebellar Ataxia, Autosomal Recessive 7
Truncal titubation, Saccadic smooth pursuit, Hypermetric saccades, Postural tremor, Limb ataxia, ... OMIM:609270
Spinocerebellar Ataxia 21
Hypermetric saccades, Microsaccadic pursuit, Strabismus, Akinesia, Limb ataxia, Gait ataxia, Post... OMIM:607454
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Difficulty walking, Dysmetria, Absent smooth pursuit, Nystagmus, Ataxia, Dystonia, Intention tremor ORPHA:438114
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Optic atrophy, Horizontal nystagmus, Impaired horizontal smooth pursuit, Gait ataxia, Intention t... OMIM:614381
Cherubism
Marcus Gunn pupil, Optic neuropathy, Macular scar OMIM:118400
Spinocerebellar Ataxia 10
Impaired smooth pursuit, Decreased nerve conduction velocity, Limb ataxia, Gait ataxia, Dysmetria... OMIM:603516
Autosomal Recessive Ataxia, Beauce Type
Ophthalmoparesis, Arm dystonia, Abnormal saccadic eye movements, Strabismus, Impaired smooth purs... ORPHA:88644
Machado-Joseph Disease
External ophthalmoplegia, Impaired horizontal smooth pursuit, Limb ataxia, Dysmetric saccades, Su... OMIM:109150
Spinocerebellar Ataxia 13
Optic atrophy, Jerky ocular pursuit movements, Limb ataxia, Gait ataxia, Limb dysmetria, Nystagmu... OMIM:605259
Spinocerebellar Ataxia 42
Saccadic smooth pursuit, Horizontal nystagmus, Tremor, Spastic ataxia, Ataxia, Spastic gait, Unst... OMIM:616795
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Impaired smooth pursuit, Limb ataxia, Progressive gait ataxia, Truncal ataxia, Progressive cerebe... ORPHA:247815
Autosomal Recessive Spastic Paraplegia Type 15
Abnormality of eye movement, Pigmentary retinopathy, Saccadic smooth pursuit, Hand tremor, Retina... ORPHA:100996
Episodic Ataxia Type 4
Abnormality of ocular smooth pursuit, Gaze-evoked nystagmus, Ataxia ORPHA:79136
Dentatorubral Pallidoluysian Atrophy
Blepharospasm, Ophthalmoparesis, Saccadic smooth pursuit, Dysdiadochokinesis, Limb ataxia, Gait a... ORPHA:101
Primary Lateral Sclerosis, Juvenile
Saccadic smooth pursuit, Abnormal upper motor neuron morphology, Decreased compound muscle action... OMIM:606353
Spinocerebellar Ataxia 17
Broad-based gait, Gaze-evoked nystagmus, Limb ataxia, Gait ataxia, Impaired pursuit initiation an... OMIM:607136
Episodic Ataxia, Type 2
Saccadic smooth pursuit, Episodic ataxia, Dystonia, Downbeat nystagmus, Gaze-evoked nystagmus, Pr... OMIM:108500
Spinocerebellar Ataxia Type 8
Ataxia, Impaired smooth pursuit, Limb ataxia, Gait ataxia, Nystagmus, Unsteady gait, Dystonia ORPHA:98760
Episodic Ataxia, Type 4
Esophoria, Abnormality of ocular smooth pursuit, Gaze-evoked nystagmus, Episodic ataxia OMIM:606552
Huntington Disease-Like 1
Abnormality of eye movement, Jerky ocular pursuit movements, Abnormal saccadic eye movements, Gai... ORPHA:157941
Tremor-Ataxia-Central Hypomyelination Syndrome
Optic atrophy, Vertical supranuclear gaze palsy, Autonomic bladder dysfunction, Postural tremor, ... ORPHA:447896
Spinocerebellar Ataxia Type 21
Akinesia, Gait ataxia, Tremor, Intermittent microsaccadic pursuits, Nystagmus, Progressive cerebe... ORPHA:98773
Joubert Syndrome 2
Optic disc coloboma, Abnormal saccadic eye movements, Chorioretinal coloboma, Rotary nystagmus, I... OMIM:608091
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Saccadic smooth pursuit, Hand tremor, Horizontal nystagmus, Difficulty walking, Head tremor, Limb... ORPHA:412057
Spastic Paraplegia 46, Autosomal Recessive
Jerky ocular pursuit movements, Hand tremor, Head tremor, Limb dysmetria, Upper limb dysmetria, N... OMIM:614409
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Progressive gait ataxia, Jerky ocular pursuit movements, Nystagmus, Progressive cerebellar ataxia ORPHA:1177
Spastic Paraplegia 85, Autosomal Recessive
Optic atrophy, Saccadic smooth pursuit, Torticollis OMIM:619686
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Optic atrophy, Difficulty walking, Impaired pursuit initiation and maintenance, Tremor, Loss of a... ORPHA:137898
Autosomal Recessive Spastic Paraplegia Type 46
Broad-based gait, Jerky ocular pursuit movements, Difficulty walking, Head tremor, Nystagmus, Ata... ORPHA:320391
Spinocerebellar Ataxia Type 13
Upgaze palsy, Optic atrophy, Jerky ocular pursuit movements, Difficulty walking, Limb ataxia, Gai... ORPHA:98768
Pontocerebellar Hypoplasia, Type 2A
Opisthotonus, Dystonia, Optic atrophy, Impaired smooth pursuit OMIM:277470
Joubert Syndrome 1
Chorioretinal coloboma, Optic disc coloboma, Strabismus, Abnormal saccadic eye movements, Impaire... OMIM:213300
Developmental And Epileptic Encephalopathy 4
Impaired horizontal smooth pursuit, Choreoathetosis, Tremor OMIM:612164
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Gaze-evoked nystagmus, Saccadic smooth pursuit, Strabismus, Head tremor, Gait imbalance, Postural... ORPHA:64753
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Inability to walk, Impaired smooth pursuit, Nystagmus, Strabismus ORPHA:488613
Primary Progressive Freezing Gait
Shuffling gait, Impaired smooth pursuit, Difficulty walking, Postural tremor, Gait imbalance ORPHA:75567
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Abnormal hypothalamus morphology, Pituitar... OMIM:614963
Wars2-Related Combined Oxidative Phosphorylation Defect
Impaired smooth pursuit, Difficulty walking, Limb dystonia, Dysmetria, Tremor, Exotropia, Rod-con... ORPHA:572798
Spinocerebellar Ataxia Type 42
Upper limb postural tremor, Saccadic smooth pursuit, Resting tremor, Strabismus, Head tremor, Gaz... ORPHA:458803
Neurodegeneration With Brain Iron Accumulation 2B
Optic atrophy, Impaired smooth pursuit, Gait ataxia, Intention tremor, Dysmetria, Nystagmus, Dyst... OMIM:610217
Leber Congenital Amaurosis 15
Pigmentary retinopathy, Impaired smooth pursuit, Attenuation of retinal blood vessels, Peripapill... OMIM:613843
Gerstmann-Straussler Disease
Impaired smooth pursuit, Limb ataxia, Gait ataxia, Tremor, Truncal ataxia OMIM:137440
Pantothenate Kinase-Associated Neurodegeneration
Abnormality of eye movement, Optic atrophy, Pigmentary retinopathy, Saccadic smooth pursuit, Dysm... ORPHA:157850
Fragile X Tremor/Ataxia Syndrome
Saccadic smooth pursuit, Resting tremor, Postural tremor, Gait ataxia, Action tremor, Dysmetria, ... OMIM:300623
Stt3A-Cdg
Impaired smooth pursuit ORPHA:370921
Pyruvate Dehydrogenase E1-Beta Deficiency
Impaired smooth pursuit, Ataxia ORPHA:255138
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Optic atrophy, Strabismus, Inability to walk, Absent smooth pursuit, Nystagmus, Ataxia OMIM:617193
Mannosidosis, Alpha B, Lysosomal
Impaired smooth pursuit, Limb ataxia, Gait ataxia, Retinal degeneration, Nystagmus OMIM:248500
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Optic atrophy, Absent smooth pursuit, Strabismus ORPHA:329178
Short Stature, Microcephaly, And Endocrine Dysfunction
Broad-based gait, Impaired smooth pursuit, Dysmetria, Gait disturbance, Nystagmus, Ataxia, Dysdia... OMIM:616541
Leukoencephalopathy With Dystonia And Motor Neuropathy
Decreased motor nerve conduction velocity, Head tremor, Focal T2 hyperintense thalamic lesion, Sl... OMIM:613724
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Saccadic smooth pursuit, Decreased motor nerve conduction velocity, Strabismus, Head tremor, Limb... OMIM:606002
Trichothiodystrophy 8, Nonphotosensitive
Craniofacial dystonia, Head titubation, Jerky ocular pursuit movements, Esodeviation OMIM:619691
Spinocerebellar Ataxia With Epilepsy
Optic atrophy, Gaze-evoked nystagmus, Ophthalmoparesis, Focal T2 hyperintense thalamic lesion, Ga... ORPHA:254881
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Generalized dystonia, Limb ataxia, Limb dystonia, Nystagmus, Thalamic calcification OMIM:618824
Autosomal Recessive Spastic Paraplegia Type 11
Hypothalamic atrophy, Saccadic smooth pursuit, Strabismus, Inability to walk, Retinal degeneratio... ORPHA:2822
Intellectual Developmental Disorder, Autosomal Dominant 42
Strabismus, Inability to walk, Impaired smooth pursuit, Limb dystonia, Esotropia, Abnormality of ... OMIM:616973
Lissencephaly Due To Lis1 Mutation
Opisthotonus, Impaired smooth pursuit ORPHA:95232
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Optic atrophy, Dystonia, Absent smooth pursuit, Ataxia ORPHA:496641
7Q11.23 Microduplication Syndrome
Strabismus, Impaired smooth pursuit, Dysmetria, Esotropia, Abnormal optic disc morphology, Exotro... ORPHA:96121
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Dysmetria, Hypometric saccades, Ataxia, Dystonia, Thalamic calcification OMIM:618317
Craniopharyngioma
Optic atrophy, Increased circulating prolactin concentration, Hypopituitarism, Abnormal hypothala... ORPHA:54595
Coasy Protein-Associated Neurodegeneration
Difficulty walking, Abnormal thalamus morphology, Oromandibular dystonia ORPHA:397725
Basal Ganglia Calcification, Idiopathic, 5
Postural tremor, Athetosis, Thalamic calcification, Hand tremor OMIM:615483
Tubulinopathy-Associated Dysgyria
Abnormal thalamus morphology, Strabismus, Abnormal involuntary eye movements, Oculomotor apraxia,... ORPHA:467166
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Interhypothalamic adhesion, Strabismus 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
Optic atrophy, Difficulty walking, Inability to walk, Facial diplegia, Impaired tandem gait, Opht... ORPHA:254930
Aceruloplasminemia
Blepharospasm, Macular degeneration, Akinesia, Limb ataxia, Gait ataxia, Abnormality of retinal p... ORPHA:48818
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Horizontal supranuclear gaze palsy, Unsteady gait, Fusion of the left and right thalami OMIM:617542
Amoebiasis Due To Free-Living Amoebae
Abnormal hypothalamus morphology, Oculomotor nerve palsy, Facial palsy, Ataxia ORPHA:68
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Abnormality of eye movement, Abnormal thalamus morphology, Abnormal saccadic eye movements, Strab... ORPHA:300570
Familial Acute Necrotizing Encephalopathy
Gait disturbance, Abnormal visual fixation, Abnormal thalamus morphology ORPHA:88619
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
External ophthalmoplegia, Optic atrophy, Decreased nerve conduction velocity, Optic disc pallor, ... ORPHA:485421
Panhypophysitis
Secondary growth hormone deficiency, Increased circulating prolactin concentration, Panhypopituit... ORPHA:95513
Adenohypophysitis
Secondary growth hormone deficiency, Increased circulating prolactin concentration, Panhypopituit... ORPHA:95512
Tay-Sachs Disease
Abnormality of eye movement, Optic atrophy, Cherry red spot of the macula, Inability to walk, Lar... ORPHA:845
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormality of the diencephalon, Ocular albinism, Nystagmus, Ataxia ORPHA:2720
Japanese Encephalitis
Pill-rolling tremor, Decreased motor nerve conduction velocity, Abnormal thalamus morphology, Foc... ORPHA:79139
Pallister-Hall-Like Syndrome
Hypothalamic hamartoma, Anterior hypopituitarism OMIM:241800
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Ophthalmoparesis, Gait ataxia, Nystagmus, Upgaze palsy, Abnormal thalamic MRI signal intensity ORPHA:70595
Neurodevelopmental Disorder With Language Delay And Seizures
Hypothalamic hamartoma OMIM:619908
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormal thalamus morphology, Strabismus ORPHA:404440
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Abnormality of the diencephalon ORPHA:2570
Orofaciodigital Syndrome Type 6
Tremor, Esotropia, Gait disturbance, Hypothalamic hamartoma, Nystagmus, Ataxia ORPHA:2754
Oculoskeletodental Syndrome
Abnormal thalamus morphology ORPHA:557003
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormality of the diencephalon ORPHA:2165
Bickerstaff Brainstem Encephalitis
Abnormality of eye movement, Facial paralysis, Decreased motor nerve conduction velocity, Abnorma... ORPHA:79138
3P25.3 Microdeletion Syndrome
Abnormal thalamus morphology, Ataxia ORPHA:435638
Congenital Disorder Of Deglycosylation 2
Hypothalamic hamartoma, Retinal coloboma OMIM:619775
Hydranencephaly
Atrophic pituitary gland, Dysgenesis of the thalamus, Thalamic edema, Chorioretinal atrophy, Opti... ORPHA:2177
Progeria-Short Stature-Pigmented Nevi Syndrome
Broad-based gait, Abnormal thalamus morphology ORPHA:2959
Orofaciodigital Syndrome Vi
Esotropia, Hypothalamic hamartoma, Nystagmus OMIM:277170
Microphthalmia, Syndromic 3
Optic nerve aplasia, Hypothalamic hamartoma, Anterior pituitary hypoplasia, Optic nerve hypoplasia OMIM:206900
Pallister-Hall Syndrome
Decreased response to growth hormone stimulation test, Panhypopituitarism, Hypothalamic hamartoma OMIM:146510
Norrie Disease
Abnormality of the diencephalon, Optic atrophy, Abnormal vitreous humor morphology, Abnormal reti... ORPHA:649
Orofaciodigital Syndrome I
Hypothalamic hamartoma OMIM:311200
Williams Syndrome
Abnormality of the diencephalon, Strabismus, Retinal arteriolar tortuosity, Gait imbalance, Tremo... ORPHA:904
Pallister-Hall Syndrome
Secondary growth hormone deficiency, Hypopituitarism, Panhypopituitarism, Gonadotropin deficiency... 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 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Light modulates glucose metabolism by a retina-hypothalamus-brown adipose tissue axis. Cell (January 2023) Opn4tm1c(KOMP)Wtsi 36669474
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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