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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 1.51×10-10

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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.

X-ray

XRay Images Whole Body Lateral Orientation

7 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

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X-ray

XRay Images Skull Lateral Orientation

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X-ray

XRay Images Whole Body Dorso Ventral

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X-ray

XRay Images Forepaw

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

9 Images

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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
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Seizure, Neurodegeneration OMIM:613068
Diaminopentanuria
Seizure, Spasticity, Neurodegeneration, Ataxia OMIM:222350
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract OMIM:616722
Iridocorneal Endothelial Syndrome
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... ORPHA:64734
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Huntington Disease
Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia, Seizure, Gliosis, Neuronal loss ... OMIM:143100
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... OMIM:617319
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Ataxia, Cerebral atrophy, Neurodegeneration, Generalized myoclonic seizure OMIM:610951
Ceroid Lipofuscinosis, Neuronal, 8
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Sei... OMIM:600143
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Developmental And Epileptic Encephalopathy 14
Clonus, Focal autonomic seizure, Focal motor seizure, Tetraplegia, Status epilepticus, Gliosis, S... OMIM:614959
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Progressive Multifocal Leukoencephalopathy
Abnormal astrocyte morphology, Somatic sensory dysfunction, Weakness due to upper motor neuron dy... ORPHA:217260
Spinocerebellar Ataxia 41
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy OMIM:616410
Microphthalmia, Isolated, With Coloboma 7
Iris coloboma, Inferior chorioretinal coloboma OMIM:614497
Facial Spasm
Anisocoria OMIM:134300
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Bilateral tonic-clonic seizure, Increased neuronal autofluorescent lipopigment, Ataxia, Parkinson... OMIM:162350
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
L-2-Hydroxyglutaric Aciduria
Cerebellar atrophy, Ataxia, Spastic tetraparesis, Corpus callosum atrophy, Abnormal pyramidal sig... OMIM:236792
Pelizaeus-Merzbacher Disease
Broad-based gait, Reduction of oligodendroglia, Ataxia, Tremor, Inability to walk, Head titubatio... OMIM:312080
Anterior Segment Dysgenesis 5
Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri... OMIM:604229
Deafness, Autosomal Recessive 108
Iris coloboma OMIM:617654
Dravet Syndrome
Bilateral tonic-clonic seizure, Ataxia, Generalized clonic seizure, Focal hemiclonic seizure, Vis... OMIM:607208
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Somatic sensory dysfunction, Parkinsonism, Corpus callosum atrophy, Rigidity, Bradykinesia, Seizu... OMIM:221820
Spinocerebellar Ataxia 17
Cerebellar atrophy, Diffuse cerebral atrophy, Broad-based gait, Ataxia, Parkinsonism, Rigidity, C... OMIM:607136
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Ataxia, Tremor, Foc... OMIM:615362
Anterior Segment Dysgenesis 3
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... OMIM:601631
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic tetraparesis, Babinski sign, Spastic p... OMIM:612319
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal... OMIM:617672
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Pontocereb... OMIM:616053
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Ataxia, Babinski sign, Hand tremor, Lateral ventricle dilatation, Neurodegene... OMIM:615889
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Cerebral atrophy, Distal sensory impairment, Seizure, Gliosis, Myoclonus, Abnormality of extrapyr... OMIM:604218
Weill-Marchesani Syndrome 4
Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb... OMIM:613195
Spinocerebellar Ataxia 23
Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen... OMIM:610245
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... ORPHA:98769
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Myoclonic Epilepsy, Familial Infantile
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Limb ataxia, Gait ataxia, Impaired t... OMIM:605021
Alzheimer Disease 3
Spastic tetraparesis, Neurofibrillary tangles, Babinski sign, Seizure, Gait disturbance, Myoclonu... OMIM:607822
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Limb tremor, Dysmetri... OMIM:256731
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology
Neurofibrillary tangles, Seizure, Senile plaques OMIM:605055
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Limb ataxia, Gliosis, Spas... OMIM:213200
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Iris coloboma, Chorioretinal coloboma OMIM:616428
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Ataxia, Unsteady gait, Abnormal pyramidal sign, Spastic tetraplegia, Cerebral... OMIM:256600
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... ORPHA:98973
Spinocerebellar Ataxia, Autosomal Recessive 27
Cerebellar atrophy, Spastic ataxia, Torticollis, Gait ataxia, Lower limb hypertonia, Gliosis, Gai... OMIM:618369
Glaucoma, Primary Closed-Angle
Anterior synechiae of the anterior chamber OMIM:618880
Loose Anagen Syndrome
Iris coloboma ORPHA:168
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Bilateral tonic-clonic seizure, Ataxia, Tremor, Generalized non-motor (absence) seizure, Myocloni... OMIM:617831
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Spastic Paraplegia 79B, Autosomal Recessive
Cerebellar atrophy, Impaired vibratory sensation, Lower limb spasticity, Ataxia, Postural tremor,... OMIM:615491
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Cerebellar atrophy, Resting tremor, Incoordination, Ataxia, Tremor, Paraparesis, Babinski sign, G... OMIM:615157
Bilateral Acute Depigmentation Of The Iris
Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig... ORPHA:69736
Neurodegeneration With Brain Iron Accumulation 6
Rigidity, Spastic tetraplegia, Bradykinesia, Tip-toe gait, Neurodegeneration, Gait disturbance, S... OMIM:615643
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Sei... OMIM:300894
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Axonal degeneration, Hand tremor, Tetraplegia, Degeneration of anterior horn cells, Distal sensor... OMIM:604484
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Alzheimer Disease 9, Susceptibility To
Neurofibrillary tangles, Hippocampal atrophy, Abnormality of extrapyramidal motor function, Senil... OMIM:608907
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Leukocoria, Uveitis, Microcornea, Buphthalmos, Shallow anterior chambe... OMIM:221900
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Astrocytosis, Gliosis, Myoclonu... ORPHA:204
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Amyotrophic lateral sclerosis, Parkinsonism, Paraparesis, Cerebral atrophy, Gliosis, Tetraparesis... OMIM:105550
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Amyotrophic lateral sclerosis, Gliosis, Paralysis OMIM:300857
Aniridia 2
Aniridia, Iris coloboma, Cataract, Lens subluxation OMIM:617141
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... ORPHA:263479
Neurodegeneration With Brain Iron Accumulation 2B
Cerebellar atrophy, Neurofibrillary tangles, Chorea, Babinski sign, Cerebral atrophy, Dysmetria, ... OMIM:610217
Gerstmann-Straussler Disease
Cerebellar atrophy, Parkinsonism, Neurofibrillary tangles, Tremor, Rigidity, Limb ataxia, Gait at... OMIM:137440
Huntington Disease-Like 1
Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gai... ORPHA:157941
Cataract 21, Multiple Types
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... OMIM:610202
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Cerebellar atrophy, Neurodegeneration, Gait ataxia ORPHA:438134
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Parkinsonism, Neurofibrillary tangles, Seizure, Hypertonia, Myoclonus, Apraxia, Oculomoto... ORPHA:1020
Early-onset Alzheimer disease with cerebral amyloid angiopathy
Neurofibrillary tangles, Senile plaques DECIPHER:48
Spinocerebellar Ataxia Type 17
Cerebellar atrophy, Torticollis, Ataxia, Parkinsonism, Involuntary movements, Rigidity, Chorea, A... ORPHA:98759
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Caudate atrophy, Babinski sign, Cerebral atrophy, Seizure, Lateral ventricle dilatation, Gliosis,... OMIM:221770
Axenfeld-Rieger Syndrome, Type 3
Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter... OMIM:602482
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata OMIM:609141
Hemimegalencephaly
Epileptic spasm, Focal motor seizure, Focal tonic seizure, Hemiparesis, Seizure, Gliosis, Myoclon... ORPHA:99802
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, C... OMIM:272750
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Parkinsonism, Neurofibrillary tangles, Lateral ventricle dilatation, Gliosis, Apraxia, Neuronal l... OMIM:607485
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Multifocal seizures, Clonus, Focal motor status epilepticus, Rigidity, Focal-onset seizure, Babin... OMIM:614498
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Chorea, Abnormal pyramidal sign, Cerebral atrophy, Seizure, Progres... ORPHA:309246
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, Blepharospasm, Br... OMIM:606159
Congenital Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Abnormal astrocyte morphology, Myoclonic seizure, Seizure, Gliosis, Status ep... ORPHA:168486
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, Seizure, Neurodegeneration, Gliosis, Status epilepticus, Spasticity, Neuronal... OMIM:616239
Frontotemporal Dementia With Motor Neuron Disease
Weakness due to upper motor neuron dysfunction, Parkinsonism, Degeneration of the lateral cortico... ORPHA:275872
Amoebic Keratitis
Iris atrophy, Anterior uveitis, Cataract, Abnormal corneal epithelium morphology, Abnormal anteri... ORPHA:67043
Phacoanaphylactic Uveitis
Hypopyon, Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium mo... ORPHA:209959
Pontocerebellar Hypoplasia, Type 4
Seizure, Hypertonia, Gliosis, Myoclonus, Spasticity OMIM:225753
Adrenoleukodystrophy
Incoordination, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxia, Seizure, Neurodegen... OMIM:300100
Oculoauricular Syndrome
Cataract, Sclerocornea, Chorioretinal atrophy, Developmental cataract, Microcornea, Iris cyst, Po... OMIM:612109
Immunodeficiency 83, Susceptibility To Viral Infections
Hemiparesis, Seizure, Gliosis OMIM:613002
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hypoplasia of the iris, Anterior synechiae of the anterior chamber, Ocular anterior segment dysge... OMIM:614195
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Parkinsonism, Akinesia, Neurofibrillary tangles, Tremor, Rigidity, Cerebral atrop... OMIM:601104
Krabbe Disease
Diffuse cerebral atrophy, Seizure, Hypertonia, Neurodegeneration, Decerebrate rigidity, Progressi... OMIM:245200
Spastic Paraplegia 50, Autosomal Recessive
Cerebellar atrophy, Cerebral palsy, Ataxia, Babinski sign, Spastic tetraplegia, Seizure, Gliosis,... OMIM:612936
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Neurofibrillary tangles, Amyotrophic lateral sclerosis, Global brain atrophy OMIM:619132
Microcephaly 10, Primary, Autosomal Recessive
Cerebellar atrophy, Cerebral atrophy, Hypertonia, Gliosis, Spasticity, Agenesis of corpus callosum OMIM:615095
Alzheimer Disease 4
Cerebral amyloid angiopathy, Apraxia, Neurofibrillary tangles, Senile plaques OMIM:606889
Progressive Non-Fluent Aphasia
Parkinsonism, Neurofibrillary tangles, Temporal cortical atrophy, Astrocytosis, Frontotemporal ce... ORPHA:100070
Parkinson Disease 23, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Akinesia, Neurofibrillary tangles, Rigidity, Abnormal pyramidal sig... OMIM:616840
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Cerebral palsy, Clonus, Babinski sign, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Spast... OMIM:619847
Idiopathic Panuveitis
Conjunctival hyperemia, Cataract, Choroidal neovascularization, Posterior synechiae of the anteri... ORPHA:280921
Pyruvate Dehydrogenase E1-Alpha Deficiency
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Inability to walk, Cerebellar gliosis, ... ORPHA:79243
Hsd10 Disease, Infantile Type
Diffuse cerebral atrophy, Spastic tetraparesis, Poor coordination, Spastic diplegia, Cerebral atr... ORPHA:391428
Machado-Joseph Disease
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Parkinsonism, Facial-lingual fasciculat... OMIM:109150
Supranuclear Palsy, Progressive, 2
Eyelid apraxia, Postural tremor, Parkinsonism, Akinesia, Neurofibrillary tangles, Rigidity, Granu... OMIM:609454
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Microcornea, Anterior synechiae of the anterior chamber, Iris coloboma, Iris hypopigmentation ORPHA:3214
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea OMIM:251750
Developmental And Epileptic Encephalopathy 71
Seizure, Gliosis OMIM:618328
Intermediate Uveitis
Anterior uveitis, Posterior synechiae of the anterior chamber, Cataract, Band keratopathy ORPHA:279914
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Neurofibrillary tangles, Tremor, Rigidity, Parkinsonism with favorable response t... ORPHA:199351
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gliosis, Myoclonus, Gait disturbance, Shuff... OMIM:168601
Niemann-Pick Disease, Type C1
Ataxia, Neurofibrillary tangles, Gait ataxia, Seizure, Cataplexy, Spasticity, Neuronal loss in ce... OMIM:257220
Cerebrooculofacioskeletal Syndrome 1
Cerebellar atrophy, Diffuse cerebral atrophy, Seizure, Neurodegeneration, Gliosis, Brain atrophy,... OMIM:214150
Combined Oxidative Phosphorylation Defect Type 29
Bilateral tonic-clonic seizure, Axonal degeneration, Poor coordination, Neurodegeneration, Myoclo... ORPHA:478029
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Ataxia, Infantile spasms, Chorea, Spastic tetraplegia, Cerebral atrophy, Gait ataxia, Seizure, Ne... OMIM:618321
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Spastic tetraplegia, Tetraplegia, Seizure, Hypertonia, Gliosis OMIM:608033
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microcornea, Posterior lenticonus, Iris coloboma, Chorioretinal coloboma ORPHA:231736
Spongiform Encephalopathy With Neuropsychiatric Features
Neurofibrillary tangles, Gliosis, Parkinsonism OMIM:606688
Combined Oxidative Phosphorylation Deficiency 14
Cerebellar atrophy, Diffuse cerebral atrophy, Cerebral atrophy, Myoclonic seizure, Seizure, Glios... OMIM:614946
Pick Disease Of Brain
Neuronal loss in central nervous system, Gliosis OMIM:172700
Progressive Supranuclear Palsy
Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Gliosis, Falls, Neuronal loss in ce... ORPHA:683
Leukoencephalopathy With Vanishing White Matter 1
Unsteady gait, Seizure, Gliosis, Gait disturbance, Spasticity OMIM:603896
Distal Deletion 6P
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... ORPHA:96125
2Q24 Microdeletion Syndrome
Cataract, Abnormality iris morphology ORPHA:1617
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ataxia, Rigidity, Focal-onset seizure, Spastic tetraplegia, Seizure, Neurodegeneration, Difficult... OMIM:618476
Neurodegeneration With Brain Iron Accumulation 4
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Babinski sign, Abnormal pyramidal sign, Neurode... OMIM:614298
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Cerebellar atrophy, Lower limb spasticity, Diffuse cerebral atrophy, Epileptic spasm, Bilateral t... OMIM:617193
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Seizure, Neurodegeneration OMIM:620210
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,... OMIM:601552
Pyruvate Dehydrogenase E2 Deficiency
Speech apraxia, Broad-based gait, Babinski sign, Hypertonia, Neurodegeneration, Gait disturbance,... ORPHA:79244
Coats Disease
Leukocoria OMIM:300216
Cerebral Amyloid Angiopathy, Itm2B-Related, 2
Ataxia, Neurofibrillary tangles, Cerebral amyloid angiopathy, Spasticity, Intention tremor OMIM:117300
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Neurodegeneration, Spasticity ORPHA:803
Pontocerebellar Hypoplasia, Type 2A
Chorea, Opisthotonus, Seizure, Gliosis, Extrapyramidal dyskinesia, Cerebral cortical atrophy OMIM:277470
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Alzheimer Disease 2
Neurofibrillary tangles, Parkinsonism OMIM:104310
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Ataxia, Corpus callosum atrophy, Babinski sign, Pseudobulbar paralysis, Gliosis, Spasticity OMIM:169500
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ataxia, Clonus, Poor coordination, Spastic tetraplegia, Cerebral atrophy, Gait ataxia, Spastic di... OMIM:616878
Tay-Sachs Disease
Cerebellar atrophy, Exaggerated startle response, Incoordination, Tremor, Inability to walk, Typi... ORPHA:845
Alzheimer Disease, Familial, 1
Neurofibrillary tangles, Parkinsonism OMIM:104300
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Bilateral tonic-clonic seizure, Tremor, Seizure, Hyperkinetic movements, Gliosis, Gait disturbanc... ORPHA:457240
Cerebral Visual Impairment
Cerebral palsy, Clumsiness, Central nervous system degeneration, Seizure, Neurodegeneration, Ocul... ORPHA:447788
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnormal pyramid... OMIM:234200
Primary Non-Essential Cutis Verticis Gyrata
Seizure, Gliosis ORPHA:357225
Intellectual Developmental Disorder, X-Linked 12
Tremor, Seizure, Hyperkinetic movements, Gliosis, Gait disturbance, Spasticity OMIM:300957
X-Linked Recessive Ocular Albinism
Abnormal pupil morphology, Astigmatism, Ocular albinism, Iris hypopigmentation ORPHA:54
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Posterior synechiae of the anterior chamber, Developmental cataract OMIM:613154
Lissencephaly, X-Linked, 2
Seizure, Spasticity, Agenesis of corpus callosum, Gliosis OMIM:300215
Multiple System Atrophy 1, Susceptibility To
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Neurodegeneration OMIM:146500
Familial Acute Necrotizing Encephalopathy
Rigidity, Spastic tetraplegia, Seizure, Hypertonia, Gliosis, Gait disturbance, Spasticity ORPHA:88619
Sympathetic Ophthalmia
Cataract, Anterior chamber cells, Posterior synechiae of the anterior chamber, Posterior uveitis,... ORPHA:79098
Severe Early-Childhood-Onset Retinal Dystrophy
Abnormal corneal endothelium morphology, Posterior subcapsular cataract, Posterior synechiae of t... ORPHA:364055
Leigh Syndrome
Seizure, Spasticity, Gliosis, Ataxia OMIM:256000
Ataxia-Telangiectasia-Like Disorder 2
Cerebellar atrophy, Unsteady gait, Neurodegeneration, Ataxia OMIM:615919
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Diffuse cerebral atrophy, Head titubation, Spastic tetraplegia, Seizure, Gliosis ORPHA:3240
Woolly Hair
Abnormal pupil morphology, Cataract ORPHA:170
Pelizaeus-Merzbacher Disease, Connatal Form
Lower limb spasticity, Ataxia, Inability to walk, Dystonic gait, Titubation, Gliosis, Difficulty ... ORPHA:280210
Tubulointerstitial Nephritis And Uveitis Syndrome
Nongranulomatous uveitis, Anterior uveitis, Cataract, Choroidal neovascularization, Anterior cham... ORPHA:91500
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Epilepsia partialis continua, Ataxia, Paralysis, Cerebral cortical neurodegen... OMIM:203700
Norrie Disease
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... OMIM:310600
Hereditary Late-Onset Parkinson Disease
Resting tremor, Parkinsonism, Akinesia, Rigidity, Bradykinesia, Gliosis, Shuffling gait, Parkinso... ORPHA:411602
Aortic Aneurysm, Familial Thoracic 6
Iris flocculi OMIM:611788
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Cerebellar atrophy, Ataxia, Postural tremor, Babinski sign, Seizure, Lower limb hypertonia, Glios... OMIM:301072
Aniridia 1
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... OMIM:106210
Chediak-Higashi Syndrome
Ataxia, Tremor, Seizure, Gait disturbance, Neurodegeneration OMIM:214500
Niemann-Pick Disease, Type C2
Ataxia, Neurofibrillary tangles, Seizure, Cataplexy, Spasticity OMIM:607625
Molybdenum Cofactor Deficiency, Complementation Group B
Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Spastic tetraplegia, Cerebral atrophy, ... OMIM:252160
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology ORPHA:2151
Late-Onset Retinal Degeneration
Iris atrophy, Choroidal neovascularization, Abnormal anterior eye segment morphology, Chorioretin... ORPHA:67042
Hec Syndrome
Abnormal pupil morphology, Developmental cataract ORPHA:2119
Unilateral Ocular Duplication
Microcornea, Abnormal pupil morphology, Iris coloboma ORPHA:3374
Axenfeld-Rieger Syndrome, Type 1
Rieger anomaly, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Megal... OMIM:180500
Mitochondrial Complex I Deficiency, Nuclear Type 2
Ankle clonus, Seizure, Gliosis, Falls, Difficulty walking OMIM:618222
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Resting tremor, Somatic sensory dysfunction, Ataxia, Parkinsonism, Paraparesi... ORPHA:909
Congenital Muscular Dystrophy With Cerebellar Involvement
Megalocornea, Cataract, Abnormality iris morphology ORPHA:370959
Mucopolysaccharidosis, Type Ii
Seizure, Neurodegeneration OMIM:309900
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Clonus, Clonic seizure, Hypertonia, Intention tremor, Ataxia, Seizure, Febrile seizure (within th... OMIM:619475
Juvenile Glaucoma
Abnormal anterior chamber morphology, Abnormality iris morphology ORPHA:98977
1Q41Q42 Microdeletion Syndrome
Abnormality iris morphology ORPHA:250999
Hurler Syndrome
Neurodegeneration OMIM:607014
Mucopolysaccharidosis, Type Vii
Neurodegeneration OMIM:253220
Pierson Syndrome
Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Uveal ectropion, Hypoplasia of the iris... OMIM:609049
Nijmegen Breakage Syndrome
Neurodegeneration, Glioma OMIM:251260
Oculodentodigital Dysplasia
Microcornea, Cataract, Abnormality iris morphology ORPHA:2710
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Abnormality iris morphology ORPHA:91387
Primrose Syndrome
Seizure, Neurodegeneration, Ataxia 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
Zfp597em1(IMPC)J Exon Deletion Mice
Zfp597tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Zfp597tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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