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Gene: Zfp597 MGI:1918313

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Gene Summary

Name:
zinc finger protein 597
Synonyms:
4933407K12Rik

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
iris synechia Zfp597em1(IMPC)J HOM Early adult 1.28×10-10

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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 Zfp597 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 Zfp597 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Megalencephalic Leukoencephalopathy With Subcortical Cysts 1
Diffuse spongiform leukoencephalopathy, Diffuse swelling of cerebral white matter, Megalencephaly... OMIM:604004
Megalencephaly With Dysmyelination
Abnormal cerebral white matter morphology, Megalencephaly, Ataxia, Cerebral dysmyelination, Seizu... OMIM:249240
Leukoencephalopathy, Progressive, With Ovarian Failure
Tremor, Dystonia, Apraxia, Neurodegeneration, Ataxia, Progressive leukoencephalopathy, Periventri... OMIM:615889
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Seizure, Neurodegeneration OMIM:613068
Heterochromia Iridis
Asymmetry of iris pigmentation, Heterochromia iridis OMIM:142500
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Diaminopentanuria
Seizure, Neurodegeneration, Ataxia, Spasticity OMIM:222350
Ceroid Lipofuscinosis, Neuronal, 4A (Kufs Type), Autosomal Recessive
Abnormality of extrapyramidal motor function, Cerebral atrophy, Ataxia, Seizure, Increased neuron... OMIM:204300
Anterior Segment Dysgenesis 6
Developmental glaucoma, Corneal opacity, Corneal neovascularization, Posterior synechiae of the a... OMIM:617315
Ceroid Lipofuscinosis, Neuronal, 8
Cerebral atrophy, Ataxia, Seizure, Cerebellar atrophy, Increased neuronal autofluorescent lipopig... OMIM:600143
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Truncal ataxia, Hypoplasia of the corpus callosum, Cerebral atrophy, Myoclonic seizure, Cerebella... OMIM:611726
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4
Inability to walk, Truncal ataxia, Corpus callosum atrophy, Cerebral atrophy, Cerebellar atrophy OMIM:615268
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Diffuse white matter abnormalities, Diffuse swelling of cerebral white matter, Megalencephaly, Ce... OMIM:613925
Developmental And Epileptic Encephalopathy 14
Gliosis, Clonus, Hypoplasia of the corpus callosum, Status epilepticus, Cerebral cortical atrophy... OMIM:614959
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Dystonia, Tremor, Abnormality of extrapyramidal motor function, Gait disturbance, Abn... OMIM:614561
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Dystonia, Abnormality of extrapyramidal motor function, Hypoplasia of the corpus callosum, Chorea... OMIM:617672
Peters Anomaly
Developmental glaucoma, Peters anomaly, Opacification of the corneal stroma, Subcapsular cataract... ORPHA:708
Ceroid Lipofuscinosis, Neuronal, 7
Neurodegeneration, Cerebral atrophy, Ataxia, Cerebellar atrophy, Generalized myoclonic seizure OMIM:610951
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Posterior synechiae of the anterior chamber, Developmental cataract OMIM:616722
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Tremor, Spastic paraparesis, Abnormality of extrapyramidal motor function, Cerebral atr... OMIM:300894
Huntington Disease
Gait ataxia, Gliosis, Chorea, Bradykinesia, Seizure, Cerebellar atrophy, Rigidity, Neuronal loss ... OMIM:143100
Spastic Paraplegia 35, Autosomal Recessive
Spastic paraplegia, Dystonia, Abnormal periventricular white matter morphology, Spastic parapares... OMIM:612319
Pelizaeus-Merzbacher Disease
Dystonia, Tremor, Reduction of oligodendroglia, Progressive spastic quadriplegia, Abnormal pyrami... OMIM:312080
Ceroid Lipofuscinosis, Neuronal, 2
Increased extraneuronal autofluorescent lipopigment, Cerebral atrophy, Ataxia, Seizure, Increased... OMIM:204500
Spinocerebellar Ataxia, Autosomal Recessive 12
Gait ataxia, Limb ataxia, Ataxia, Seizure, Cerebellar atrophy, Babinski sign, Microcephaly, Spast... OMIM:614322
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Hypoplasia of the corpus callosum, Ataxia, Seizure, Cerebral cortical atrophy, Cerebellar... OMIM:617862
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Ectopia pupillae, Corneal opacity OMIM:608484
Spinocerebellar Ataxia, Autosomal Recessive 27
Gait ataxia, Gliosis, Cerebral atrophy, Torticollis, Cerebellar atrophy, Frequent falls, Spasticity OMIM:618369
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Dravet Syndrome
Generalized clonic seizure, Visually-induced seizure, Atonic seizure, Cerebral atrophy, Abnormal ... OMIM:607208
Spinocerebellar Ataxia 17
Positive Romberg sign, Dystonia, Apraxia, Gait ataxia, Gliosis, Chorea, Limb ataxia, Ataxia, Brad... OMIM:607136
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Uveal ectropion, Ectopia lentis, Microphakia, Hypoplasia of the ir... OMIM:617319
Microcephaly, Seizures, And Developmental Delay
Hypoplasia of the corpus callosum, Ataxia, Seizure, Cerebellar atrophy, Simplified gyral pattern,... OMIM:613402
Progressive Multifocal Leukoencephalopathy
Gait ataxia, Paresthesia, Abnormal oligodendroglia morphology, Weakness due to upper motor neuron... ORPHA:217260
Corneal Dystrophy, Posterior Polymorphous, 1
Uveal ectropion, Corneal opacity, Ectopia pupillae, Iris atrophy, Polymorphous posterior corneal ... OMIM:122000
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Gliosis, Abnormality of extrapyramidal motor function, Cerebral atrophy, Seizure, Myoclonus, Dist... OMIM:604218
Neurodegeneration With Brain Iron Accumulation 6
Dystonia, Spastic paraparesis, Hypoplasia of the corpus callosum, Gait disturbance, Neurodegenera... OMIM:615643
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Hypoplasia of the corpus callosum, Gait disturbance, Seizure, Cerebell... OMIM:618090
Camos Syndrome
Progressive extrapyramidal movement disorder, Ataxia, Brain atrophy, Seizure, Microcephaly, Spast... ORPHA:83472
Leukoencephalopathy, Hereditary Diffuse, With Spheroids
Apraxia, Gliosis, Abnormal cerebral white matter morphology, Bradykinesia, Leukoencephalopathy, R... OMIM:221820
Anterior Segment Dysgenesis 5
Developmental cataract, Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Peters ano... OMIM:604229
Spinocerebellar Ataxia, Autosomal Recessive 22
Truncal ataxia, Hypoplasia of the corpus callosum, Abnormal pyramidal sign, Ataxia, Lower limb sp... OMIM:616948
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Spinocerebellar Ataxia 45
Limb ataxia, Cerebellar atrophy, Gait ataxia, Ataxia OMIM:617769
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Tremor, Cerebral atrophy, Tetraparesis, Abnormal pyramidal sign, Ataxia, Seizure, Myocl... OMIM:615924
Facial Spasm
Anisocoria OMIM:134300
Ceroid Lipofuscinosis, Neuronal, 4B (Kufs Type), Autosomal Dominant
Abnormality of extrapyramidal motor function, Ataxia, Seizure, Increased neuronal autofluorescent... OMIM:162350
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Dystonia, Apraxia, Tremor, Spastic paraparesis, Incoordination, Cerebral atro... OMIM:615157
Spinocerebellar Ataxia 23
Tremor, Gait ataxia, Limb ataxia, Cerebellar atrophy, Impaired vibration sensation in the lower l... OMIM:610245
Deafness, Autosomal Recessive 108
Iris coloboma OMIM:617654
Anterior Segment Dysgenesis 3
Rieger anomaly, Axenfeld anomaly, Posterior embryotoxon, Ectopia pupillae, Peters anomaly, Abnorm... OMIM:601631
Anterior Segment Dysgenesis 2
Aniridia, Congenital aphakia, Anterior segment of eye aplasia, Cataract, Peters anomaly, Microcor... OMIM:610256
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Seizure, Cerebellar atrophy, Myoclo... OMIM:615362
Cataract-Microcornea Syndrome
Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy ORPHA:1377
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Seizure, Cerebellar atrophy, Myoclonus OMIM:616187
Striatal Degeneration, Autosomal Dominant 1
Dysdiadochokinesis, Symmetric lesions of the basal ganglia, Gait disturbance, Bradykinesia, Degen... OMIM:609161
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Chorioretinal coloboma, Iris coloboma OMIM:616428
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Focal Cortical Dysplasia, Type Ii
Astrocytosis, Hemiparesis, Cortical dysplasia, Focal impaired awareness seizure, Focal cortical d... OMIM:607341
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Ataxia, Action tremor, Cerebellar atrophy, Upper limb postural tremor, ... ORPHA:98769
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Sporadic Creutzfeldt-Jakob Disease
Astrocytosis, Gliosis, Abnormality of extrapyramidal motor function, Cerebral atrophy, Abnormal p... ORPHA:204
Generalized Epilepsy With Febrile Seizures-Plus
Febrile seizure (within the age range of 3 months to 6 years), Tremor, Incoordination, Generalize... ORPHA:36387
Huntington Disease-Like 1
Basal ganglia gliosis, Incoordination, Global brain atrophy, Chorea, Unsteady gait, Dysmetria, Ri... OMIM:603218
Neurodegeneration With Brain Iron Accumulation 2A
Gliosis, Cerebral atrophy, Abnormal pyramidal sign, Neurodegeneration, Ataxia, Seizure, Unsteady ... OMIM:256600
Aniridia 2
Cataract, Aniridia OMIM:617141
Juvenile Huntington Disease
Dystonia, Gait ataxia, Chorea, Abnormal cerebral white matter morphology, Ataxia, Bradykinesia, N... ORPHA:248111
Spastic Paraplegia 79, Autosomal Recessive
Spastic paraplegia, Cerebral atrophy, Tetraparesis, Head titubation, Ankle clonus, Ataxia, Neurod... OMIM:615491
Ceroid Lipofuscinosis, Neuronal, 5
Dysdiadochokinesis, Clumsiness, Ataxia, Seizure, Cerebellar atrophy, Increased neuronal autofluor... OMIM:256731
Hemimegalencephaly
Pachygyria, Gliosis, Atonic seizure, Hemiparesis, Focal tonic seizure, Status epilepticus, Polymi... ORPHA:99802
Neurodegeneration With Brain Iron Accumulation 7
Hypoplasia of the corpus callosum, Cerebral atrophy, Loss of ability to walk, Ataxia, Cerebellar ... OMIM:617916
Familial Infantile Bilateral Striatal Necrosis
Astrocytosis, Basal ganglia gliosis, Basal ganglia cysts, Atrophy/Degeneration involving the caud... ORPHA:225154
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Multifocal seizures, Rigidity, Gliosis, Clonus, Hypertonia, Seizure, Babinski sign, Microcephaly,... OMIM:614498
Iris Hypoplasia With Glaucoma
Hypoplasia of the iris, Iris atrophy OMIM:308500
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Gait disturbance, Poor fine motor coordination, Cerebral atrophy... ORPHA:98762
Lichtenstein-Knorr Syndrome
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Cerebellar atrophy, Dysmetria OMIM:616291
Spinocerebellar Ataxia 29
Dysdiadochokinesis, Limb ataxia, Ataxia, Cerebellar vermis atrophy, Dysmetria, Intention tremor, ... OMIM:117360
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Dystonia, Lethargy, Gliosis, Chorea, Abnormal cerebral white matter morphology, Cerebral atrophy,... OMIM:618321
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Uveal ectropion, Corneal opacity, Ectopia pupillae, Corneal stromal ... ORPHA:98973
Megalocornea
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... OMIM:309300
Glaucoma, Primary Closed-Angle
Anterior synechiae of the anterior chamber OMIM:618880
Neurodegeneration With Brain Iron Accumulation 3
Dystonia, Choreoathetosis, Tremor, Chorea, Neurodegeneration, Blepharospasm, Ataxia, Bradykinesia... OMIM:606159
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Lar... ORPHA:101110
Cln5 Disease
Clumsiness, Cerebral cortical atrophy, Focal myoclonic seizure, Periventricular white matter hype... ORPHA:228360
Spinocerebellar Ataxia, Autosomal Recessive 2
Tremor, Gait ataxia, Incoordination, Gliosis, Limb ataxia, Ataxia, Unsteady gait, Dysmetria, Spas... OMIM:213200
Spinocerebellar Ataxia Type 17
Dystonia, Generalized cerebral atrophy/hypoplasia, Cerebellar Purkinje layer atrophy, Chorea, Gai... ORPHA:98759
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Cerebral atrophy, Ataxia, Seizure, Cerebellar atrophy, Distal sensory impairment, Steppage gait OMIM:607250
L-2-Hydroxyglutaric Aciduria
Corpus callosum atrophy, Gliosis, Abnormality of extrapyramidal motor function, Global brain atro... OMIM:236792
Loose Anagen Syndrome
Iris coloboma ORPHA:168
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gliosis, Gait disturbance, Degeneration of anterior horn cells, Distal sensory impairment, Tetrap... OMIM:604484
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Apraxia, Gliosis, Paraparesis, Cerebral atrophy, Tetraparesis, Amyotrophic lateral sclerosis, Par... OMIM:105550
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Dystonia, Corpus callosum atrophy, Cerebral atrophy, Ataxia, Seizure, Cerebellar atrophy, Dysmetr... OMIM:618088
Congenital Neuronal Ceroid Lipofuscinosis
Pachygyria, Gliosis, Neuronal loss in the cerebral cortex, Status epilepticus, Seizure, Myoclonic... ORPHA:168486
Spastic Paraplegia 50, Autosomal Recessive
Spastic paraplegia, Gliosis, Hypoplasia of the corpus callosum, Seizure, Cerebellar atrophy, Spas... OMIM:612936
Infantile Neuronal Ceroid Lipofuscinosis
Dystonia, Tremor, Clumsiness, Chorea, Cerebral atrophy, Poor fine motor coordination, Ataxia, Bra... ORPHA:79263
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Loss of ability to walk, Ataxia, Unsteady gait, Cerebellar atrophy, Dysmetria OMIM:617917
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Microcephaly, Cerebellar atrophy, Gait ataxia, Neurodegeneration ORPHA:438134
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Pontocerebellar Hypoplasia, Type 2A
Abnormal periventricular white matter morphology, Gliosis, Abnormal cerebral white matter morphol... OMIM:277470
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Neurofibrillary tangles, Chorea, Hypertonia, Cerebral ... OMIM:610217
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Apraxia, Gliosis, Hypoplasia of the corpus callosum, Gait disturbance, Cerebral atrophy, Seizure,... OMIM:221770
Huntington Disease-Like 1
Gait ataxia, Clumsiness, Incoordination, Gliosis, Chorea, Slurred speech, Poor fine motor coordin... ORPHA:157941
Combined Oxidative Phosphorylation Deficiency 14
Gliosis, Cerebral atrophy, Seizure, Cerebellar atrophy, Atrophy/Degeneration affecting the brains... OMIM:614946
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Shallow anterior chamber, Persistent pupillary membrane, Leukocoria, Uveitis, Iris c... OMIM:221900
Cataract 21, Multiple Types
Cortical pulverulent cataract, Microcornea, Iris coloboma, Cerulean cataract OMIM:610202
Immunodeficiency 83, Susceptibility To Viral Infections
Seizure, Lethargy, Hemiparesis, Gliosis OMIM:613002
Gm2 Gangliosidosis, Ab Variant
Dystonia, Punctate periventricular T2 hyperintense foci, Chorea, Progressive spastic quadriplegia... ORPHA:309246
Bilateral Acute Depigmentation Of The Iris
Abnormal iris pigmentation, Iris pigment dispersion, Pigment deposition in the trabecular meshwor... ORPHA:69736
Combined Oxidative Phosphorylation Deficiency 24
Gliosis, Hypoplasia of the corpus callosum, Neurodegeneration, Status epilepticus, Seizure, Cereb... OMIM:616239
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Astrocytosis, Dystonia, Gait disturbance, Cerebral cortical atrophy, Myoclonus, Stereotypy, Babin... OMIM:600795
Pontocerebellar Hypoplasia, Type 4
Gliosis, Hypertonia, Seizure, Myoclonus, Microcephaly, Spasticity OMIM:225753
Familial Infantile Myoclonic Epilepsy
Clumsiness, Thick cerebral cortex, Focal-onset seizure, Gait disturbance, Blepharospasm, Bilatera... ORPHA:352582
Adrenoleukodystrophy
Spastic paraplegia, Incoordination, Truncal ataxia, Impaired vibration sensation at ankles, Limb ... OMIM:300100
Gm2-Gangliosidosis, Ab Variant
Dystonia, Chorea, Hypertonia, Cerebral atrophy, Abnormal pyramidal sign, Spastic tetraparesis, Pa... OMIM:272750
Exfoliation Syndrome
Anisocoria, Pigment deposition in the trabecular meshwork, Cataract, Pseudoexfoliation, Abnormali... OMIM:177650
Frontotemporal Dementia With Motor Neuron Disease
Degeneration of the lateral corticospinal tracts, Apraxia, Gliosis, Abnormality of extrapyramidal... ORPHA:275872
Ectopia Lentis Et Pupillae
Cataract, Persistent pupillary membrane, Ectopia lentis OMIM:225200
Anisocoria
Anisocoria OMIM:106240
Spinocerebellar Ataxia, Autosomal Recessive 26
Dysdiadochokinesis, Positive Romberg sign, Limb ataxia, Oculomotor apraxia, Ataxia, Unsteady gait... OMIM:617633
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Abnormal periventricular white matter morphology, Abnormal cerebral white matter morphology, Neur... OMIM:618476
Huntington Disease-Like 3
Dystonia, Frontal cortical atrophy, Abnormality of extrapyramidal motor function, Chorea, Abnorma... OMIM:604802
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Dystonia, Gliosis, Amyotrophic lateral sclerosis, Paralysis, Athetosis OMIM:300857
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia
Truncal ataxia, Spastic paraparesis, Palatal myoclonus, Atrophy of the spinal cord, Cerebral cort... OMIM:113610
Krabbe Disease
Hypertonia, Neurodegeneration, Seizure, Decerebrate rigidity, Progressive spasticity, Diffuse cer... OMIM:245200
Pyruvate Dehydrogenase E1-Alpha Deficiency
Inability to walk, Basal ganglia necrosis, Basal ganglia gliosis, Basal ganglia cysts, Dystonia, ... ORPHA:79243
Autosomal Spastic Paraplegia Type 58
Torticollis, Spasticity, Erratic myoclonus, Spastic ataxia, Chorea, Abnormal pyramidal sign, Clon... ORPHA:397946
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Ectopia lentis, Microspherophakia, Deep anterior chamber, Iridodonesis, Megalocornea OMIM:251750
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Gliosis, Hypertonia, Seizure, Spastic tetraplegia, Tetraplegia, Cerebral edema OMIM:608033
Spastic Ataxia 5, Autosomal Recessive
Dysdiadochokinesis, Dystonia, Spastic paraparesis, Spastic ataxia, Oculomotor apraxia, Bilateral ... OMIM:614487
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Hsd10 Disease, Infantile Type
Dystonia, Cerebral atrophy, Spastic diplegia, Poor coordination, Spastic tetraparesis, Frontotemp... ORPHA:391428
Pyruvate Dehydrogenase E2 Deficiency
Eye of the tiger anomaly of globus pallidus, Paroxysmal dystonia, Speech apraxia, Difficulty walk... ORPHA:79244
Amoebic Keratitis
Decreased corneal sensation, Abnormal corneal epithelium morphology, Corneal perforation, Catarac... ORPHA:67043
Idiopathic Anterior Uveitis
Posterior synechiae of the anterior chamber, Posterior subcapsular cataract, Nuclear cataract ORPHA:280914
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Inability to walk, Dystonia, Choreoathetosis, Truncal ataxia, Tremor, Gait ataxia, Hypoplasia of ... OMIM:618877
Microcephaly 10, Primary, Autosomal Recessive
Gliosis, Hypertonia, Cerebral atrophy, Cerebellar atrophy, Microcephaly, Spasticity OMIM:615095
Dentatorubral Pallidoluysian Atrophy
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Dyssynergia, Limb ataxia, Blepharospasm, Ataxia,... ORPHA:101
Pick Disease Of Brain
Gliosis, Neuronal loss in central nervous system, Stereotypy OMIM:172700
Weill-Marchesani Syndrome 4
Iridodonesis, Phakodonesis, Ectopia lentis OMIM:613195
Neurodegeneration With Brain Iron Accumulation 4
Dystonia, Tremor, Abnormality of extrapyramidal motor function, Gait disturbance, Neurodegenerati... OMIM:614298
Leukoencephalopathy With Vanishing White Matter
Lethargy, Gliosis, Gait disturbance, Seizure, Unsteady gait, Cessation of head growth, Leukoencep... OMIM:603896
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Apraxia, Neurofibrillary tangles, Gliosis, Lewy bodies, Cerebral cortical atrophy, Parkinsonism, ... OMIM:607485
Combined Oxidative Phosphorylation Defect Type 29
Diffuse cerebellar atrophy, Global brain atrophy, Poor coordination, Neurodegeneration, Bilateral... ORPHA:478029
Cerebral Visual Impairment
Clumsiness, Abnormal cerebral white matter morphology, Neurodegeneration, Oculomotor apraxia, Sei... ORPHA:447788
Spinocerebellar Ataxia, X-Linked 3
Unilateral vocal cord paralysis, Lethargy, Incoordination, Gliosis, Head titubation, Seizure, Cer... OMIM:301790
Machado-Joseph Disease
Dystonia, Truncal ataxia, Impaired vibratory sensation, Gliosis, Abnormality of extrapyramidal mo... OMIM:109150
Primary Non-Essential Cutis Verticis Gyrata
Seizure, Microcephaly, Periventricular leukomalacia, Gliosis ORPHA:357225
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Microcornea, Iris coloboma, Anterior synechiae of the anterior chamber ORPHA:3214
Progressive Supranuclear Palsy
Dystonia, Tremor, Gliosis, Blepharospasm, Bradykinesia, Cerebral cortical atrophy, Unsteady gait,... ORPHA:683
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Microcephaly, Gliosis OMIM:615119
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Inability to walk, Generalized tonic seizure, Gliosis, Upper limb spasticity, Hypoplasia of the c... OMIM:617193
Diabetes Insipidus, Neurohypophyseal
Central diabetes insipidus, Gliosis OMIM:125700
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Pseudobulbar paralysis, Corpus callosum atrophy, Diffuse leukoencephalopathy, Gliosis, Ataxia, Ba... OMIM:169500
Familial Acute Necrotizing Encephalopathy
Abnormality of thalamus morphology, Gliosis, Hypertonia, Gait disturbance, Seizure, Spastic tetra... ORPHA:88619
Idiopathic Panuveitis
Posterior synechiae of the anterior chamber, Cataract, Choroidal neovascularization, Conjunctival... ORPHA:280921
Neurodegeneration With Brain Iron Accumulation 1
Eye of the tiger anomaly of globus pallidus, Dystonia, Choreoathetosis, Eyelid apraxia, Motor tic... OMIM:234200
Ataxia-Telangiectasia-Like Disorder 2
Neurodegeneration, Ataxia, Unsteady gait, Cerebellar atrophy, Microcephaly OMIM:615919
Intermediate Uveitis
Band keratopathy, Posterior synechiae of the anterior chamber, Cataract, Anterior uveitis ORPHA:279914
Tay-Sachs Disease
Dystonia, Clumsiness, Gliosis, Global brain atrophy, Poor fine motor coordination, Ankle clonus, ... ORPHA:845
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Axial dystonia, Tremor, Neurofibrillary tangles, Akinesia, Gliosis, Neuronal loss... OMIM:601104
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Microcornea, Iris coloboma, Posterior lenticonus ORPHA:231736
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Gliosis, Upper limb spasticity, Gait disturbance, Hyperkinetic movements, Bilateral tonic... ORPHA:457240
Supranuclear Palsy, Progressive, 2
Postural tremor, Eyelid apraxia, Axial dystonia, Neurofibrillary tangles, Akinesia, Gliosis, Brad... OMIM:609454
Parkinson Disease 1, Autosomal Dominant
Dystonia, Gliosis, Gait disturbance, Lewy bodies, Resting tremor, Bradykinesia, Parkinsonism, Myo... OMIM:168601
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Dystonia, Gait ataxia, Clonus, Gait disturbance, Cerebral atrophy, Spastic diplegia, Poor coordin... OMIM:616878
Epilepsy, Progressive Myoclonic, 10
Spastic ataxia, Ataxia, Lafora bodies, Seizure, Progressive cerebellar ataxia, Spastic tetraplegi... OMIM:616640
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Gliosis, Head titubation, Subcortical white matter calcifications, Seizure, Spastic tetraplegia, ... ORPHA:3240
Lafora Disease
Inability to walk, Atypical absence seizure, Erratic myoclonus, Atonic seizure, Focal-onset seizu... ORPHA:501
Distal Monosomy 6P
Anterior synechiae of the anterior chamber, Posterior embryotoxon, Corneal opacity, Hypoplasia of... ORPHA:96125
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Astrocytosis, Gliosis, Hypertonia, Ataxia, Paralysis, Status epilepticus, Epilepsia partialis con... OMIM:203700
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis OMIM:606688
Leigh Syndrome
Dystonia, Focal substantia nigra T2 hyperintensity, Gliosis, Ataxia, Seizure, Spasticity OMIM:256000
Intellectual Developmental Disorder, X-Linked 12
Tremor, Gliosis, Abnormal cerebral white matter morphology, Gait disturbance, Hyperkinetic moveme... OMIM:300957
2Q24 Microdeletion Syndrome
Cataract, Abnormality iris morphology ORPHA:1617
Coats Disease
Leukocoria OMIM:300216
Lissencephaly, X-Linked, 2
Pachygyria, Gliosis, Seizure, Agenesis of corpus callosum, Lissencephaly, Spasticity OMIM:300215
Pelizaeus-Merzbacher Disease, Connatal Form
Inability to walk, Gliosis, Difficulty walking, Ataxia, Lower limb spasticity, Macrogyria, Tituba... ORPHA:280210
Amyotrophic Lateral Sclerosis
Neurodegeneration, Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Spasticity ORPHA:803
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Hereditary Late-Onset Parkinson Disease
Dystonia, Gliosis, Parkinsonism with favorable response to dopaminergic medication, Akinesia, Lew... ORPHA:411602
X-Linked Recessive Ocular Albinism
Iris hypopigmentation, Astigmatism, Abnormal pupil morphology, Ocular albinism ORPHA:54
Molybdenum Cofactor Deficiency, Complementation Group B
Gliosis, Hypoplasia of the corpus callosum, Hypertonia, Cerebral atrophy, Seizure, Opisthotonus, ... OMIM:252160
Multiple System Atrophy 1, Susceptibility To
Tremor, Neurodegeneration, Ataxia, Bradykinesia, Parkinsonism, Babinski sign, Rigidity OMIM:146500
Leigh Syndrome
Dystonia, Gliosis, Abnormality of extrapyramidal motor function, Diffuse spongiform leukoencephal... ORPHA:506
Severe Early-Childhood-Onset Retinal Dystrophy
Posterior subcapsular cataract, Posterior synechiae of the anterior chamber, Chorioretinal atroph... ORPHA:364055
Woolly Hair
Cataract, Abnormal pupil morphology ORPHA:170
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Seizure, Tremor, Gliosis, Ataxia OMIM:220111
Mental Retardation, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Gliosis, Hypoplasia of the corpus callosum, Cerebral atrophy, Seizure, Central nervous system deg... OMIM:602613
Tubulointerstitial Nephritis And Uveitis Syndrome
Panuveitis, Intermediate uveitis, Anterior chamber flare, Choroidal neovascularization, Cataract,... ORPHA:91500
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Parkinsonism, Degeneration of anterior horn cells, Gliosis, Trophic limb changes OMIM:118301
Mannosidosis, Alpha B, Lysosomal
Gait ataxia, Corpus callosum atrophy, Gliosis, Limb ataxia, Abnormal pyramidal sign, Cerebral cor... OMIM:248500
Aortic Aneurysm, Familial Thoracic 6
Iris flocculi OMIM:611788
Chediak-Higashi Syndrome
Tremor, Gait disturbance, Neurodegeneration, Ataxia, Seizure OMIM:214500
Molybdenum Cofactor Deficiency, Complementation Group A
Gliosis, Hypoplasia of the corpus callosum, Cerebral atrophy, Spastic tetraparesis, Seizure, Opis... OMIM:252150
Cerebrotendinous Xanthomatosis
Dystonia, Gliosis, Abnormality of extrapyramidal motor function, Palatal myoclonus, Global brain ... ORPHA:909
Aniridia 1
Aniridia, Anterior subcapsular cataract, Corneal erosion, Chorioretinal hypopigmentation, Ectopia... OMIM:106210
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology ORPHA:2151
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Inability to walk, Dystonia, Focal emotional seizure with laughing, Gliosis, Atonic seizure, Chor... ORPHA:404454
Hec Syndrome
Developmental cataract, Abnormal pupil morphology ORPHA:2119
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Gliosis, Absent septum pellucidum, Upper limb spasticity, Hypoplasia of the corpus callosum, Abno... OMIM:300868
Triopia
Abnormal pupil morphology, Microcornea, Iris coloboma ORPHA:3374
Nijmegen Breakage Syndrome
Microcephaly, Neurodegeneration, Glioma, Hyperactivity OMIM:251260
Mucopolysaccharidosis, Type Ii
Seizure, Neurodegeneration OMIM:309900
Axenfeld-Rieger Syndrome, Type 1
Aniridia, Polycoria, Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Megalocornea,... OMIM:180500
Congenital Muscular Dystrophy With Cerebellar Involvement
Cataract, Megalocornea, Abnormality iris morphology ORPHA:370959
Juvenile Glaucoma
Abnormal anterior chamber morphology, Abnormality iris morphology ORPHA:98977
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Iris atrophy, Ectopia lentis OMIM:601552
Mucopolysaccharidosis, Type Vii
Neurodegeneration OMIM:253220
1Q41Q42 Microdeletion Syndrome
Abnormality iris morphology ORPHA:250999
Hurler Syndrome
Neurodegeneration OMIM:607014
Collagenoma, Familial Cutaneous
Iris atrophy OMIM:115250
Diets-Jongmans Syndrome
Seizure, Gliosis, Attention deficit hyperactivity disorder, Thick corpus callosum OMIM:618846
Oculodentodigital Dysplasia
Cataract, Microcornea, Abnormality iris morphology ORPHA:2710
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Abnormality iris morphology ORPHA:91387
Primrose Syndrome
Hypoplasia of the corpus callosum, Neurodegeneration, Cerebral calcification OMIM:259050

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 Zfp597

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 Zfp597.

No publications found that use IMPC mice or data for Zfp597.

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MGI Allele Allele Type Produced
Zfp597tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Zfp597tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Zfp597em1(IMPC)J Exon Deletion Mice

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