Gene Summary

zinc finger protein 597

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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 5.98×10-11

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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.


XRay Images Whole Body Dorso Ventral

7 Images


XRay Images Skull Lateral Orientation

7 Images


XRay Images Forepaw

7 Images


XRay Images Skull Dorso Ventral Orientation

7 Images


XRay Images Whole Body Lateral Orientation

7 Images

Auditory Brain Stem Response

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

9 Images

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
Matching phenotypes Source
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Pupillary Membrane, Persistence Of
Megalocornea, Developmental cataract, Persistent pupillary membrane OMIM:178900
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Seizure, Neurodegeneration OMIM:613068
Spasticity, Seizure, Ataxia, Neurodegeneration OMIM:222350
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Anterior Segment Dysgenesis 6
Posterior synechiae of the anterior chamber, Corneal opacity, Developmental glaucoma, Abnormal De... OMIM:617315
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Developmental cataract, Posterior synechiae of the anterior chamber, Iris coloboma OMIM:616722
Iridocorneal Endothelial Syndrome
Ectopia pupillae, Abnormal migration of corneal endothelium, Central heterochromia, Hypoplastic i... ORPHA:64734
Peters Anomaly
Subcapsular cataract, Thinning of Descemet membrane, Anterior synechiae of the anterior chamber, ... ORPHA:708
Huntington Disease
Rigidity, Chorea, Seizure, Gait ataxia, Bradykinesia, Gliosis, Neuronal loss in central nervous s... OMIM:143100
Anterior Segment Dysgenesis 8
Cataract, Ectopia pupillae, Ectopia lentis, Iridodonesis, Microphakia, Persistent pupillary membr... OMIM:617319
Ceroid Lipofuscinosis, Neuronal, 8
Cerebral atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Loss of ambulation, Sei... OMIM:600143
Anterior Segment Dysgenesis 7
Cataract, Iris coloboma, Buphthalmos, Anterior synechiae of the anterior chamber, Sclerocornea, C... OMIM:269400
Developmental And Epileptic Encephalopathy 14
Spasticity, Status epilepticus, Clonus, Focal motor seizure, Focal autonomic seizure, Tetraplegia... OMIM:614959
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Ceroid Lipofuscinosis, Neuronal, 7
Cerebral atrophy, Ataxia, Generalized myoclonic seizure, Neurodegeneration, Cerebellar atrophy OMIM:610951
Progressive Multifocal Leukoencephalopathy
Paresthesia, Parkinsonism, Somatic sensory dysfunction, Weakness due to upper motor neuron dysfun... ORPHA:217260
Spinocerebellar Ataxia 41
Unsteady gait, Ataxia, Gait ataxia, Cerebellar vermis atrophy, Cerebellar atrophy OMIM:616410
Microphthalmia, Isolated, With Coloboma 7
Inferior chorioretinal coloboma, Iris coloboma OMIM:614497
Corneal Dystrophy, Posterior Polymorphous, 1
Ectopia pupillae, Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology,... OMIM:122000
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Parkinsonism, Ataxia, Myoclonic seizure, Bilateral tonic-clonic seizure, Abnormality of extrapyra... OMIM:162350
Anterior Segment Dysgenesis 5
Hypoplasia of the iris, Anterior synechiae of the anterior chamber, Sclerocornea, Developmental c... OMIM:604229
Pelizaeus-Merzbacher Disease
Abnormal pyramidal sign, Inability to walk, Global brain atrophy, Ataxia, Reduction of oligodendr... OMIM:312080
Facial Spasm
Anisocoria OMIM:134300
Deafness, Autosomal Recessive 108
Iris coloboma OMIM:617654
Dravet Syndrome
Generalized clonic seizure, Status epilepticus, Abnormal pyramidal sign, Cerebral atrophy, Ataxia... OMIM:607208
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Focal-onset seizure, Ataxia, Babinski sign, Diffuse cerebral atrophy, Bilateral tonic-clonic seiz... OMIM:615362
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Spasticity, Parkinsonism, Gait disturbance, Global brain atrophy, Somatic sensory dysfunction, Ap... OMIM:221820
Anterior Segment Dysgenesis 3
Ectopia pupillae, Abnormal iris vasculature, Hypoplastic iris stroma, Posterior embryotoxon, Axen... OMIM:601631
Spinocerebellar Ataxia 17
Parkinsonism, Limb ataxia, Ataxia, Apraxia, Diffuse cerebral atrophy, Rigidity, Chorea, Seizure, ... OMIM:607136
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Ataxia, Difficulty walking, Ankle clonus, Atrophy/Degeneration affecting the brainstem, Dysdiadoc... OMIM:612319
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Spasticity, Abnormal pyramidal sign, Parkinsonism, Inability to walk, Cerebral atrophy, Ataxia, A... OMIM:617672
Anterior Segment Dysgenesis 2
Cataract, Congenital aphakia, Anterior segment of eye aplasia, Posterior synechiae of the anterio... OMIM:610256
Cataract-Microcornea Syndrome
Cataract, Iris coloboma, Corneal dystrophy, Corneal opacity, Microcornea ORPHA:1377
Spinocerebellar Ataxia 40
Unsteady gait, Pontocerebellar atrophy, Ataxia, Ankle clonus, Dysdiadochokinesis, Tremor, Gait at... OMIM:616053
Leukoencephalopathy, Progressive, With Ovarian Failure
Spasticity, Hand tremor, Ataxia, Apraxia, Lateral ventricle dilatation, Neurodegeneration, Babins... OMIM:615889
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Distal sensory impairment, Cerebral atrophy, Abnormality of extrapyramidal motor function, Seizur... OMIM:604218
Weill-Marchesani Syndrome 4
Phakodonesis, Ectopia lentis, Iridodonesis, Shallow anterior chamber, Posterior synechiae of the ... OMIM:613195
Spinocerebellar Ataxia 23
Limb ataxia, Babinski sign, Impaired vibration sensation in the lower limbs, Tremor, Gait ataxia,... OMIM:610245
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Head tremor, Gait ataxia, Tremor by anatomical site, Action t... ORPHA:98769
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Myoclonic Epilepsy, Familial Infantile
Limb ataxia, Focal-onset seizure, Ataxia, Impaired tandem gait, Febrile seizure (within the age r... OMIM:605021
Ceroid Lipofuscinosis, Neuronal, 5
Ataxia, Clumsiness, Increased neuronal autofluorescent lipopigment, Limb tremor, Loss of ambulati... OMIM:256731
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology
Seizure, Senile plaques, Neurofibrillary tangles OMIM:605055
Cataract, Megalocornea, Astigmatism, Iridodonesis, Mosaic corneal dystrophy, Decreased corneal th... OMIM:309300
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Limb ataxia, Unsteady gait, Ataxia, Tremor, Gait ataxia, Cerebellar vermis atrophy, G... OMIM:213200
Microphthalmia, Isolated, With Coloboma 10
Chorioretinal coloboma, Iris coloboma, Microcoria OMIM:616428
Posterior Polymorphous Corneal Dystrophy
Ectopia pupillae, Astigmatism, Anterior synechiae of the anterior chamber, Corneal stromal edema,... ORPHA:98973
Glaucoma, Primary Closed-Angle
Anterior synechiae of the anterior chamber OMIM:618880
Loose Anagen Syndrome
Iris coloboma ORPHA:168
Spinocerebellar Ataxia, Autosomal Recessive 27
Spasticity, Frequent falls, Torticollis, Gait disturbance, Spastic ataxia, Gait ataxia, Lower lim... OMIM:618369
Alzheimer Disease 3
Gait disturbance, Apraxia, Neurofibrillary tangles, Abnormality of extrapyramidal motor function,... OMIM:607822
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Ataxia, Myoclonic seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Gene... OMIM:617831
Ectopia Lentis Et Pupillae
Cataract, Ectopia pupillae, Ectopia lentis, Persistent pupillary membrane, Iris transillumination... OMIM:225200
Spastic Paraplegia 79B, Autosomal Recessive
Tetraparesis, Impaired vibration sensation at ankles, Cerebral atrophy, Ataxia, Ankle clonus, Hof... OMIM:615491
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Neurodegeneration With Brain Iron Accumulation 2A
Abnormal pyramidal sign, Spastic tetraplegia, Cerebral atrophy, Ataxia, Unsteady gait, Seizure, G... OMIM:256600
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Limb ataxia, Cerebral atrophy, Ataxia, Limb fasciculations, Paraparesis, Apraxia, Dysdiadochokine... OMIM:615157
Alzheimer Disease 9, Susceptibility To
Senile plaques, Neurofibrillary tangles, Abnormality of extrapyramidal motor function, Hippocampa... OMIM:608907
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Distal sensory impairment, Gait disturbance, Hand tremor, Tetraplegia, Gliosis, Axonal degenerati... OMIM:604484
Bilateral Acute Depigmentation Of The Iris
Hypoplastic iris stroma, Abnormal corneal endothelium morphology, Abnormal anterior chamber morph... ORPHA:69736
Neurodegeneration With Brain Iron Accumulation 6
Spastic tetraplegia, Gait disturbance, Tip-toe gait, Rigidity, Bradykinesia, Neurodegeneration, S... OMIM:615643
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Iris coloboma, Uveitis, Buphthalmos, Persistent pupillary membrane, Shallow anterior ch... OMIM:221900
Exfoliation Syndrome
Cataract, Mydriasis, Phakodonesis, Abnormal lens morphology, Iris hypoperfusion, Anisocoria, Pigm... OMIM:177650
Neurodegeneration With Brain Iron Accumulation 2B
Spasticity, Cerebral atrophy, Neurofibrillary tangles, Dysdiadochokinesis, Chorea, Seizure, Brady... OMIM:610217
Sporadic Creutzfeldt-Jakob Disease
Spasticity, Abnormal pyramidal sign, Cerebral atrophy, Ataxia, Astrocytosis, Babinski sign, Abnor... ORPHA:204
L-2-Hydroxyglutaric Aciduria
Abnormal pyramidal sign, Global brain atrophy, Ataxia, Abnormality of extrapyramidal motor functi... OMIM:236792
Neurodegeneration With Brain Iron Accumulation 5
Parkinsonism, Cerebral atrophy, Rigidity, Tremor, Seizure, Bradykinesia, Neurodegeneration, Akine... OMIM:300894
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Tetraparesis, Parkinsonism, Cerebral atrophy, Paraparesis, Apraxia, Amyotrophic lateral sclerosis... OMIM:105550
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Gliosis, Amyotrophic lateral sclerosis, Paralysis, Athetosis OMIM:300857
Aniridia 2
Cataract, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Huntington Disease-Like 1
Frequent falls, Simultanapraxia, Gait disturbance, Clumsiness, Chorea, Seizure, Bradykinesia, Gai... ORPHA:157941
Gerstmann-Straussler Disease
Spasticity, Parkinsonism, Limb ataxia, Apraxia, Neurofibrillary tangles, Rigidity, Tremor, Bradyk... OMIM:137440
Cataract 21, Multiple Types
Cerulean cataract, Cortical pulverulent cataract, Iris coloboma, Corneal opacity, Microcornea, Pe... OMIM:610202
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Gait ataxia, Cerebellar atrophy, Neurodegeneration ORPHA:438134
Early-Onset Autosomal Dominant Alzheimer Disease
Parkinsonism, Oculomotor apraxia, Ataxia, Apraxia, Neurofibrillary tangles, Seizure, Myoclonus, H... ORPHA:1020
Corneal Dystrophy, Posterior Polymorphous, 3
Ectopia pupillae, Corneal guttata, Keratoconus, Corneal dystrophy OMIM:609141
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Spasticity, Gait disturbance, Cerebral atrophy, Apraxia, Lateral ventricle dilatation, Seizure, G... OMIM:221770
Early-onset Alzheimer disease with cerebral amyloid angiopathy
Senile plaques, Neurofibrillary tangles DECIPHER:48
Spinocerebellar Ataxia Type 17
Spasticity, Abnormal pyramidal sign, Parkinsonism, Torticollis, Gait disturbance, Ataxia, Blephar... ORPHA:98759
Axenfeld-Rieger Syndrome, Type 3
Ectopia pupillae, Hypoplasia of the iris, Posterior embryotoxon, Posterior synechiae of the anter... OMIM:602482
Status epilepticus, Hemiparesis, Focal motor seizure, Epileptic spasm, Atonic seizure, Seizure, G... ORPHA:99802
Non Rare In Europe: Idiopathic Anterior Uveitis
Nuclear cataract, Posterior synechiae of the anterior chamber, Posterior subcapsular cataract ORPHA:280914
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris ORPHA:1067
Gm2-Gangliosidosis, Ab Variant
Abnormal pyramidal sign, Cerebral atrophy, Myoclonic seizure, Chorea, Seizure, Exaggerated startl... OMIM:272750
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Parkinsonism, Apraxia, Neurofibrillary tangles, Lateral ventricle dilatation, Gliosis, Neuronal l... OMIM:607485
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Myoclonic spasms, Focal-onset seizure, Focal motor status epilepticus, Limb hypertonia, Babinski ... OMIM:614498
Combined Oxidative Phosphorylation Deficiency 24
Spasticity, Status epilepticus, Agenesis of corpus callosum, Seizure, Gliosis, Neurodegeneration,... OMIM:616239
Neurodegeneration With Brain Iron Accumulation 3
Spasticity, Parkinsonism, Ataxia, Blepharospasm, Rigidity, Chorea, Tremor, Bradykinesia, Neurodeg... OMIM:606159
Congenital Neuronal Ceroid Lipofuscinosis
Spasticity, Status epilepticus, Myoclonic seizure, Seizure, Gliosis, Agenesis of corpus callosum,... ORPHA:168486
Frontotemporal Dementia With Motor Neuron Disease
Tetraparesis, Parkinsonism, Progressive cerebellar ataxia, Global brain atrophy, Weakness due to ... ORPHA:275872
Aniridia-Intellectual Disability Syndrome
Cataract, Ectopia lentis, Aniridia ORPHA:1068
Amoebic Keratitis
Cataract, Corneal perforation, Corneal ulceration, Abnormal corneal epithelium morphology, Puncta... ORPHA:67043
Pontocerebellar Hypoplasia, Type 4
Spasticity, Seizure, Gliosis, Myoclonus, Hypertonia OMIM:225753
Gm2 Gangliosidosis, Ab Variant
Abnormal pyramidal sign, Cerebral atrophy, Chorea, Seizure, Exaggerated startle response, Progres... ORPHA:309246
Oculoauricular Syndrome
Cataract, Iris cyst, Iris coloboma, Microphakia, Posterior synechiae of the anterior chamber, Cho... OMIM:612109
Impaired vibration sensation at ankles, Limb ataxia, Paraparesis, Seizure, Spastic paraplegia, Sl... OMIM:300100
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hypoplasia of the iris, Anterior synechiae of the anterior chamber, Band keratopathy, Ocular ante... OMIM:614195
Immunodeficiency 83, Susceptibility To Viral Infections
Seizure, Gliosis, Hemiparesis OMIM:613002
Phacoanaphylactic Uveitis
Panuveitis, Anterior chamber flare grade 1+, Abnormal pupil morphology, Posterior uveitis, Abnorm... ORPHA:209959
Krabbe Disease
Progressive spasticity, Diffuse cerebral atrophy, Seizure, Neurodegeneration, Hypertonia, Decereb... OMIM:245200
Supranuclear Palsy, Progressive, 1
Senile plaques, Parkinsonism, Cerebral atrophy, Falls, Retrocollis, Astrocytosis, Neurofibrillary... OMIM:601104
Spastic Paraplegia 50, Autosomal Recessive
Spastic tetraplegia, Ataxia, Limb hypertonia, Babinski sign, Seizure, Gliosis, Cerebral palsy, Ce... OMIM:612936
Microcephaly 10, Primary, Autosomal Recessive
Spasticity, Cerebral atrophy, Gliosis, Agenesis of corpus callosum, Hypertonia, Cerebellar atrophy OMIM:615095
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Neurofibrillary tangles, Global brain atrophy, Amyotrophic lateral sclerosis OMIM:619132
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Spasticity, Status epilepticus, Spastic tetraplegia, Cerebral atrophy, Clonus, Babinski sign, Feb... OMIM:619847
Parkinson Disease 23, Autosomal Recessive Early-Onset
Spasticity, Abnormal pyramidal sign, Parkinsonism, Neurofibrillary tangles, Rigidity, Resting tre... OMIM:616840
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Alzheimer Disease 4
Senile plaques, Neurofibrillary tangles, Cerebral amyloid angiopathy, Apraxia OMIM:606889
Pyruvate Dehydrogenase E1-Alpha Deficiency
Infantile spasms, Inability to walk, Cerebral atrophy, Ataxia, Partial agenesis of the corpus cal... ORPHA:79243
Machado-Joseph Disease
Spasticity, Parkinsonism, Limb ataxia, Progressive cerebellar ataxia, Ataxia, Facial-lingual fasc... OMIM:109150
Idiopathic Panuveitis
Cataract, Choroidal neovascularization, Conjunctival hyperemia, Posterior synechiae of the anteri... ORPHA:280921
Hsd10 Disease, Infantile Type
Hyperkinetic movements, Cerebral atrophy, Poor coordination, Diffuse cerebral atrophy, Loss of am... ORPHA:391428
Supranuclear Palsy, Progressive, 2
Parkinsonism, Falls, Retrocollis, Postural tremor, Neurofibrillary tangles, Rigidity, Bradykinesi... OMIM:609454
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Microcornea, Anterior synechiae of the anterior chamber, Iris hypopigmentation, Iris coloboma ORPHA:3214
Progressive Non-Fluent Aphasia
Senile plaques, Parkinsonism, Astrocytosis, Temporal cortical atrophy, Apraxia, Neurofibrillary t... ORPHA:100070
Developmental And Epileptic Encephalopathy 71
Seizure, Gliosis OMIM:618328
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Ectopia lentis, Megalocornea, Iridodonesis, Microspherophakia, Buphthalmos, Deep anterior chamber OMIM:251750
Adult-Onset Dystonia-Parkinsonism
Spasticity, Clumsiness, Parkinsonism with favorable response to dopaminergic medication, Neurofib... ORPHA:199351
Intermediate Uveitis
Cataract, Posterior synechiae of the anterior chamber, Band keratopathy, Anterior uveitis ORPHA:279914
Niemann-Pick Disease, Type C1
Spasticity, Ataxia, Neurofibrillary tangles, Seizure, Gait ataxia, Cataplexy, Neuronal loss in ce... OMIM:257220
Cerebrooculofacioskeletal Syndrome 1
Agenesis of corpus callosum, Diffuse cerebral atrophy, Seizure, Gliosis, Neurodegeneration, Brain... OMIM:214150
Combined Oxidative Phosphorylation Defect Type 29
Myoclonic spasms, Global brain atrophy, Poor coordination, Bilateral tonic-clonic seizure, Axonal... ORPHA:478029
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Infantile spasms, Spastic tetraplegia, Cerebral atrophy, Ataxia, Chorea, Seizure, Gait ataxia, Gl... OMIM:618321
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Spastic tetraplegia, Seizure, Tetraplegia, Gliosis, Hypertonia OMIM:608033
Parkinson Disease 1, Autosomal Dominant
Parkinsonism, Gait disturbance, Global brain atrophy, Loss of ambulation, Rigidity, Bradykinesia,... OMIM:168601
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microcornea, Chorioretinal coloboma, Iris coloboma, Posterior lenticonus ORPHA:231736
Combined Oxidative Phosphorylation Deficiency 14
Cerebral atrophy, Myoclonic seizure, Atrophy/Degeneration affecting the brainstem, Diffuse cerebr... OMIM:614946
Pick Disease Of Brain
Neuronal loss in central nervous system, Gliosis OMIM:172700
2Q24 Microdeletion Syndrome
Cataract, Abnormality iris morphology ORPHA:1617
Spongiform Encephalopathy With Neuropsychiatric Features
Parkinsonism, Gliosis, Neurofibrillary tangles OMIM:606688
Progressive Supranuclear Palsy
Unsteady gait, Falls, Blepharospasm, Rigidity, Tremor, Bradykinesia, Gliosis, Neuronal loss in ce... ORPHA:683
Distal Deletion 6P
Ectopia pupillae, Abnormal anterior chamber morphology, Hypoplasia of the iris, Anterior synechia... ORPHA:96125
Leukoencephalopathy With Vanishing White Matter 1
Spasticity, Gait disturbance, Unsteady gait, Seizure, Gliosis OMIM:603896
Neurodegeneration With Brain Iron Accumulation 4
Spasticity, Abnormal pyramidal sign, Parkinsonism, Gait disturbance, Ataxia, Loss of ambulation, ... OMIM:614298
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Spasticity, Spastic tetraplegia, Focal-onset seizure, Ataxia, Difficulty walking, Rigidity, Seizu... OMIM:618476
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Tongue fasciculations, Inability to walk, Ataxia, Atrophy/Degeneration affecting the brainstem, D... OMIM:617193
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Seizure, Neurodegeneration OMIM:620210
Coats Disease
Leukocoria OMIM:300216
Cerebral Amyloid Angiopathy, Itm2B-Related, 2
Spasticity, Cerebral amyloid angiopathy, Ataxia, Neurofibrillary tangles, Intention tremor OMIM:117300
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Cataract, Phakodonesis, Ectopia lentis, Spontaneous conjunctival filtering bleb, Spherophakia, Sh... OMIM:601552
Pyruvate Dehydrogenase E2 Deficiency
Gait disturbance, Difficulty walking, Speech apraxia, Neurodegeneration, Babinski sign, Hypertoni... ORPHA:79244
Pontocerebellar Hypoplasia, Type 2A
Extrapyramidal dyskinesia, Chorea, Seizure, Opisthotonus, Gliosis, Cerebral cortical atrophy OMIM:277470
Amyotrophic Lateral Sclerosis
Spasticity, Motor neuron atrophy, Amyotrophic lateral sclerosis, Paralysis, Neurodegeneration ORPHA:803
Tay-Sachs Disease
Frequent falls, Progressive spasticity, Inability to walk, Global brain atrophy, Gait disturbance... ORPHA:845
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Spastic tetraplegia, Gait disturbance, Cerebral atrophy, Ataxia, Poor coordination, Clonus, Spast... OMIM:616878
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Spasticity, Ataxia, Pseudobulbar paralysis, Gliosis, Corpus callosum atrophy, Babinski sign OMIM:169500
Alzheimer Disease 2
Parkinsonism, Neurofibrillary tangles OMIM:104310
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Alzheimer Disease, Familial, 1
Parkinsonism, Neurofibrillary tangles OMIM:104300
Cerebral Visual Impairment
Oculomotor apraxia, Clumsiness, Central nervous system degeneration, Seizure, Neurodegeneration, ... ORPHA:447788
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Hyperkinetic movements, Gait disturbance, Bilateral tonic-clonic seizure, Tremor, Seizure, Gliosi... ORPHA:457240
Primary Non-Essential Cutis Verticis Gyrata
Seizure, Gliosis ORPHA:357225
X-Linked Recessive Ocular Albinism
Astigmatism, Abnormal pupil morphology, Iris hypopigmentation, Ocular albinism ORPHA:54
Neurodegeneration With Brain Iron Accumulation 1
Spasticity, Abnormal pyramidal sign, Parkinsonism, Gait disturbance, Global brain atrophy, Ataxia... OMIM:234200
Lissencephaly, X-Linked, 2
Spasticity, Seizure, Gliosis, Agenesis of corpus callosum OMIM:300215
Intellectual Developmental Disorder, X-Linked 12
Spasticity, Hyperkinetic movements, Gait disturbance, Tremor, Seizure, Gliosis OMIM:300957
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Developmental cataract, Posterior synechiae of the anterior chamber OMIM:613154
Familial Acute Necrotizing Encephalopathy
Spasticity, Spastic tetraplegia, Gait disturbance, Rigidity, Seizure, Gliosis, Hypertonia ORPHA:88619
Severe Early-Childhood-Onset Retinal Dystrophy
Posterior synechiae of the anterior chamber, Abnormal corneal endothelium morphology, Chorioretin... ORPHA:364055
Leigh Syndrome
Spasticity, Seizure, Gliosis, Ataxia OMIM:256000
Ataxia-Telangiectasia-Like Disorder 2
Cerebellar atrophy, Unsteady gait, Ataxia, Neurodegeneration OMIM:615919
Multiple System Atrophy 1, Susceptibility To
Parkinsonism, Ataxia, Rigidity, Tremor, Bradykinesia, Neurodegeneration, Babinski sign OMIM:146500
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Spastic tetraplegia, Diffuse cerebral atrophy, Head titubation, Seizure, Gliosis ORPHA:3240
Woolly Hair
Cataract, Abnormal pupil morphology ORPHA:170
Pelizaeus-Merzbacher Disease, Connatal Form
Inability to walk, Ataxia, Difficulty walking, Dystonic gait, Titubation, Gliosis, Lower limb spa... ORPHA:280210
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Tetraparesis, Status epilepticus, Cerebral atrophy, Ataxia, Cerebral cortical neurodegeneration, ... OMIM:203700
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Tubulointerstitial Nephritis And Uveitis Syndrome
Cataract, Panuveitis, Posterior uveitis, Nongranulomatous uveitis, Chorioretinal scar, Anterior c... ORPHA:91500
Norrie Disease
Cataract, Buphthalmos, Shallow anterior chamber, Hypoplasia of the iris, Corneal opacity, Opacifi... OMIM:310600
Hereditary Late-Onset Parkinson Disease
Frequent falls, Parkinsonism, Parkinsonism with favorable response to dopaminergic medication, Ri... ORPHA:411602
Aortic Aneurysm, Familial Thoracic 6
Iris flocculi OMIM:611788
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Spasticity, Status epilepticus, Ataxia, Postural tremor, Seizure, Lower limb hypertonia, Gliosis,... OMIM:301072
Chediak-Higashi Syndrome
Gait disturbance, Ataxia, Tremor, Seizure, Neurodegeneration OMIM:214500
Aniridia 1
Cataract, Ectopia pupillae, Ectopia lentis, Chorioretinal hypopigmentation, Corneal erosion, Ante... OMIM:106210
Niemann-Pick Disease, Type C2
Spasticity, Ataxia, Neurofibrillary tangles, Seizure, Cataplexy OMIM:607625
Molybdenum Cofactor Deficiency, Complementation Group B
Myoclonic spasms, Spastic tetraplegia, Cerebral atrophy, Diffuse cerebral atrophy, Bilateral toni... OMIM:252160
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology ORPHA:2151
Hec Syndrome
Developmental cataract, Abnormal pupil morphology ORPHA:2119
Late-Onset Retinal Degeneration
Iris transillumination defect, Abnormal anterior eye segment morphology, Abnormal suspensory liga... ORPHA:67042
Unilateral Ocular Duplication
Microcornea, Abnormal pupil morphology, Iris coloboma ORPHA:3374
Axenfeld-Rieger Syndrome, Type 1
Ectopia pupillae, Abnormally prominent line of Schwalbe, Megalocornea, Rieger anomaly, Hypoplasia... OMIM:180500
Mitochondrial Complex I Deficiency, Nuclear Type 2
Difficulty walking, Falls, Ankle clonus, Seizure, Gliosis OMIM:618222
Cerebrotendinous Xanthomatosis
Spasticity, Abnormal pyramidal sign, Parkinsonism, Gait disturbance, Global brain atrophy, Somati... 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
Spastic tetraplegia, Focal-onset seizure, Febrile seizure (within the age range of 3 months to 6 ... OMIM:619475
Juvenile Glaucoma
Abnormal anterior chamber morphology, Abnormality iris morphology ORPHA:98977
1Q41Q42 Microdeletion Syndrome
Abnormality iris morphology ORPHA:250999
Mucopolysaccharidosis, Type Vii
Neurodegeneration OMIM:253220
Hurler Syndrome
Neurodegeneration OMIM:607014
Pierson Syndrome
Cataract, Hypoplasia of the ciliary body, Microcoria, Hypoplasia of the iris, Posterior lenticonu... OMIM:609049
Nijmegen Breakage Syndrome
Glioma, Neurodegeneration OMIM:251260
Oculodentodigital Dysplasia
Cataract, Microcornea, Abnormality iris morphology ORPHA:2710
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Abnormality iris morphology ORPHA:91387
Primrose Syndrome
Seizure, Ataxia, Neurodegeneration OMIM:259050


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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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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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