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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 3.89×10-11

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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.

X-ray

XRay Images Whole Body Dorso Ventral

7 Images

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X-ray

XRay Images Whole Body Lateral Orientation

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X-ray

XRay Images Skull Lateral Orientation

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X-ray

XRay Images Skull Dorso Ventral Orientation

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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
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration, Seizure OMIM:613068
Diaminopentanuria
Neurodegeneration, Spasticity, Seizure, Ataxia OMIM:222350
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Anterior Segment Dysgenesis 6
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... OMIM:617315
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Iris coloboma, Posterior synechiae of the anterior chamber, Developmental cataract OMIM:616722
Iridocorneal Endothelial Syndrome
Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi... ORPHA:64734
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Ceroid Lipofuscinosis, Neuronal, 8
Cerebellar atrophy, Seizure, Cerebral atrophy, Increased neuronal autofluorescent lipopigment, My... OMIM:600143
Huntington Disease
Cerebellar atrophy, Seizure, Chorea, Gait ataxia, Rigidity, Gliosis, Neuronal loss in central ner... OMIM:143100
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Ataxia, Generalized myoclonic seizure OMIM:610951
Developmental And Epileptic Encephalopathy 14
Focal autonomic seizure, Spasticity, Cerebral cortical atrophy, Generalized tonic seizure, Clonus... OMIM:614959
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... OMIM:122000
Spinocerebellar Ataxia 41
Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Ataxia, Unsteady gait OMIM:616410
Progressive Multifocal Leukoencephalopathy
Somatic sensory dysfunction, Seizure, Abnormal astrocyte morphology, Paresthesia, Gait ataxia, Dy... ORPHA:217260
Microphthalmia/Coloboma 7
Inferior chorioretinal coloboma, Iris coloboma OMIM:614497
Facial Spasm
Anisocoria OMIM:134300
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Myoclonic seizure, Seizure, Increased neuronal autofluorescent lipopigment, Myoclonus, Abnormalit... OMIM:162350
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Anterior Segment Dysgenesis 5
Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel... OMIM:604229
Pelizaeus-Merzbacher Disease
Spastic paraplegia, Broad-based gait, Global brain atrophy, Seizure, Inability to walk, Cerebella... OMIM:312080
Dravet Syndrome
Ataxia, Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seiz... OMIM:607208
Deafness, Autosomal Recessive 108
Iris coloboma OMIM:617654
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebral cortical atrophy, Cerebellar atrophy, Seizure, Myoclonus, Gait ataxia, Tremor, Abnormali... OMIM:615362
Anterior Segment Dysgenesis 3
Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld anomaly, Po... OMIM:601631
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Spastic paraplegia, Cerebellar atrophy, Seizure, Difficulty walking, Neurodegeneration, Dysmetria... OMIM:612319
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Seizure, Cerebral atrophy, Inability t... OMIM:617672
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Spasticity, Shuffling gait, Global brain atrophy, Somatic sensory dysfunction, Seizure, Rigidity,... OMIM:221820
Spinocerebellar Ataxia 17
Broad-based gait, Cerebellar atrophy, Seizure, Chorea, Limb ataxia, Myoclonus, Positive Romberg s... OMIM:607136
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... OMIM:610256
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Tremor, Dysmetria, Ankle ... OMIM:616053
Leukoencephalopathy, Progressive, With Ovarian Failure
Spasticity, Cerebellar atrophy, Lateral ventricle dilatation, Hand tremor, Neurodegeneration, Bab... OMIM:615889
Spinocerebellar Ataxia 23
Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dy... OMIM:610245
Weill-Marchesani Syndrome 4
Ectopia lentis, Posterior synechiae of the anterior chamber, Phakodonesis, Iridodonesis, Shallow ... OMIM:613195
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Cerebral atrophy, Seizure, Myoclonus, Distal sensory impairment, Abnormality of extrapyramidal mo... OMIM:604218
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Cerebellar atrophy, Head tremor, Gait ataxia, Action tremor, Ataxia, ... ORPHA:98769
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Corneal dystrophy, Ectopia pupillae OMIM:612868
Myoclonic Epilepsy, Familial Infantile
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Limb ataxia, Gait ataxia,... OMIM:605021
Alzheimer Disease 3
Cerebral cortical atrophy, Neurofibrillary tangles, Seizure, Myoclonus, Abnormality of extrapyram... OMIM:607822
Ceroid Lipofuscinosis, Neuronal, 5
Cerebral cortical atrophy, Cerebellar atrophy, Seizure, Increased neuronal autofluorescent lipopi... OMIM:256731
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology
Senile plaques, Seizure, Neurofibrillary tangles OMIM:605055
Microphthalmia/Coloboma 10
Iris coloboma, Microcoria, Chorioretinal coloboma OMIM:616428
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Incoordination, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Dysmetria, Tremo... OMIM:213200
Glaucoma, Primary Closed-Angle
Anterior synechiae of the anterior chamber OMIM:618880
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... ORPHA:98973
Loose Anagen Syndrome
Iris coloboma ORPHA:168
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Myoclonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Seizur... OMIM:617831
Spinocerebellar Ataxia, Autosomal Recessive 27
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Gait imbalance, Gait ataxia, Spastic a... OMIM:618369
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... OMIM:225200
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Cerebral cortical atrophy, Spastic paraparesis, Cerebellar atrophy, Resting tremor, Cerebral atro... OMIM:615157
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... OMIM:309300
Spastic Paraplegia 79B, Autosomal Recessive
Spastic paraplegia, Impaired vibratory sensation, Cerebellar atrophy, Cerebral atrophy, Tetrapare... OMIM:615491
Neurodegeneration With Brain Iron Accumulation 6
Spastic paraparesis, Tip-toe gait, Neurodegeneration, Rigidity, Gait disturbance, Bradykinesia, S... OMIM:615643
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Seizure, Cerebral atrophy, Neurodegeneration, Abnormal pyramidal sign, Gliosi... OMIM:256600
Neurodegeneration With Brain Iron Accumulation 5
Spastic paraparesis, Cerebellar atrophy, Seizure, Cerebral atrophy, Neurodegeneration, Akinesia, ... OMIM:300894
Alzheimer Disease 9, Susceptibility To
Cerebral cortical atrophy, Neurofibrillary tangles, Hippocampal atrophy, Abnormality of extrapyra... OMIM:608907
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... OMIM:177650
Bilateral Acute Depigmentation Of The Iris
Abnormal corneal endothelium morphology, Pigment deposition in the trabecular meshwork, Abnormal ... ORPHA:69736
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane... OMIM:221900
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Fasciculations, Distal sensory impairment, Axonal degeneration, Gait disturbance, Te... OMIM:604484
Congenital Primary Aphakia
Corneal perforation, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segm... ORPHA:83461
Aniridia 2
Lens subluxation, Cataract, Aniridia, Iris coloboma OMIM:617141
Sporadic Creutzfeldt-Jakob Disease
Spasticity, Cerebral atrophy, Astrocytosis, Myoclonus, Abnormality of extrapyramidal motor functi... ORPHA:204
L-2-Hydroxyglutaric Aciduria
Global brain atrophy, Cerebellar atrophy, Seizure, Abnormality of extrapyramidal motor function, ... OMIM:236792
Neurodegeneration With Brain Iron Accumulation 2B
Spasticity, Cerebellar atrophy, Neurofibrillary tangles, Seizure, Cerebral atrophy, Neurodegenera... OMIM:610217
Gerstmann-Straussler Disease
Spasticity, Cerebellar atrophy, Neurofibrillary tangles, Limb ataxia, Myoclonus, Gait ataxia, Tre... OMIM:137440
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Amyotrophic lateral sclerosis, Tetraparesis, Cerebral atrophy, Apraxia, Parkinsonism, Paraparesis... OMIM:105550
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Paralysis, Athetosis, Gliosis, Amyotrophic lateral sclerosis OMIM:300857
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Corneal opacity, Cortical pulverul... OMIM:610202
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Neurodegeneration, Gait ataxia, Cerebellar atrophy ORPHA:438134
Huntington Disease-Like 1
Cerebral cortical atrophy, Involuntary movements, Cerebellar atrophy, Seizure, Incoordination, Ch... ORPHA:157941
Early-Onset Autosomal Dominant Alzheimer Disease
Cerebral cortical atrophy, Neurofibrillary tangles, Seizure, Myoclonus, Parkinsonism, Oculomotor ... ORPHA:1020
Early-onset Alzheimer disease with cerebral amyloid angiopathy
Senile plaques, Neurofibrillary tangles DECIPHER:48
Spinocerebellar Ataxia Type 17
Blepharospasm, Spasticity, Involuntary movements, Cerebellar atrophy, Chorea, Rigidity, Parkinson... ORPHA:98759
Axenfeld-Rieger Syndrome, Type 3
Ectopia pupillae, Posterior embryotoxon, Posterior synechiae of the anterior chamber, Hypoplasia ... OMIM:602482
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Keratoconus, Corneal dystrophy, Ectopia pupillae OMIM:609141
Gm2-Gangliosidosis, Ab Variant
Myoclonic seizure, Seizure, Cerebral atrophy, Neurodegeneration, Chorea, Paralysis, Abnormal pyra... OMIM:272750
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Gm2 Gangliosidosis, Ab Variant
Seizure, Cerebral atrophy, Neurodegeneration, Chorea, Progressive spastic quadriplegia, Abnormal ... ORPHA:309246
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Spasticity, Lateral ventricle dilatation, Seizure, Cerebral atrophy, Myoclonus, Babinski sign, Ap... OMIM:221770
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Cerebral cortical atrophy, Neurofibrillary tangles, Lateral ventricle dilatation, Apraxia, Parkin... OMIM:607485
Neurodegeneration With Brain Iron Accumulation 3
Blepharospasm, Spasticity, Neurodegeneration, Chorea, Tremor, Rigidity, Babinski sign, Parkinsoni... OMIM:606159
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis ORPHA:1068
Combined Oxidative Phosphorylation Deficiency 24
Spasticity, Cerebellar atrophy, Seizure, Neurodegeneration, Agenesis of corpus callosum, Gliosis,... OMIM:616239
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Generalized myoclonic seizure, Rigidity, Babinski sign, Clonus, Limb hypertonia, Myoclonic spasms... OMIM:614498
Phacoanaphylactic Uveitis
Posterior uveitis, Anterior chamber flare grade 1+, Panuveitis, Hypopyon, Posterior synechiae of ... ORPHA:209959
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Anterior synechiae of the anterior chamber, Band keratopathy, Ocular anterior segment dysgenesis,... OMIM:614195
Adrenoleukodystrophy
Spastic paraplegia, Seizure, Incoordination, Neurodegeneration, Limb ataxia, Paraparesis, Truncal... OMIM:300100
Oculoauricular Syndrome
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Iris ... OMIM:612109
Congenital Neuronal Ceroid Lipofuscinosis
Spasticity, Myoclonic seizure, Cerebellar atrophy, Seizure, Abnormal astrocyte morphology, Agenes... ORPHA:168486
Frontotemporal Dementia With Motor Neuron Disease
Global brain atrophy, Tetraparesis, Fasciculations, Abnormality of extrapyramidal motor function,... ORPHA:275872
Supranuclear Palsy, Progressive, 1
Falls, Neurofibrillary tangles, Cerebral atrophy, Akinesia, Gait imbalance, Retrocollis, Astrocyt... OMIM:601104
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Global brain atrophy, Neurofibrillary tangles, Amyotrophic lateral sclerosis OMIM:619132
Alzheimer Disease 4
Apraxia, Senile plaques, Neurofibrillary tangles, Cerebral amyloid angiopathy OMIM:606889
Immunodeficiency 83, Susceptibility To Viral Infections
Gliosis, Seizure, Hemiparesis OMIM:613002
Spastic Paraplegia 50, Autosomal Recessive
Cerebellar atrophy, Cerebral palsy, Seizure, Babinski sign, Limb hypertonia, Gliosis, Ataxia, Spa... OMIM:612936
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Krabbe Disease
Seizure, Neurodegeneration, Diffuse cerebral atrophy, Hypertonia, Decerebrate rigidity, Progressi... OMIM:245200
Microcephaly 10, Primary, Autosomal Recessive
Spasticity, Cerebellar atrophy, Cerebral atrophy, Agenesis of corpus callosum, Gliosis, Hypertonia OMIM:615095
Parkinson Disease 23, Autosomal Recessive Early-Onset
Cerebral cortical atrophy, Spasticity, Resting tremor, Neurofibrillary tangles, Akinesia, Rigidit... OMIM:616840
Neovascular Glaucoma
Rubeosis iridis, Uveal ectropion, Conjunctival hyperemia, Corneal stromal edema, Abnormal anterio... ORPHA:94058
Hsd10 Disease, Infantile Type
Frontotemporal cerebral atrophy, Poor coordination, Seizure, Cerebral atrophy, Neurodegeneration,... ORPHA:391428
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Spasticity, Spastic tetraplegia, Lateral ventricle dilatation, Seizure, Febrile seizure (within t... OMIM:619847
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Microcornea, Iris coloboma, Anterior synechiae of the anterior chamber ORPHA:3214
Supranuclear Palsy, Progressive, 2
Falls, Neurofibrillary tangles, Postural tremor, Gait imbalance, Akinesia, Retrocollis, Rigidity,... OMIM:609454
Idiopathic Panuveitis
Conjunctival hyperemia, Cataract, Choroidal neovascularization, Posterior synechiae of the anteri... ORPHA:280921
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Microspherophakia, Ectopia lentis, Megalocornea, Iridodonesis, Buphthalmos, Deep anterior chamber OMIM:251750
Adult-Onset Dystonia-Parkinsonism
Progressive extrapyramidal movement disorder, Spasticity, Frontotemporal cerebral atrophy, Neurof... ORPHA:199351
Machado-Joseph Disease
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Facial-lingual fasciculations, Fasc... OMIM:109150
Intermediate Uveitis
Cataract, Band keratopathy, Posterior synechiae of the anterior chamber, Anterior uveitis ORPHA:279914
Combined Oxidative Phosphorylation Defect Type 29
Diffuse cerebellar atrophy, Global brain atrophy, Neurodegeneration, Axonal degeneration, Bilater... ORPHA:478029
Niemann-Pick Disease, Type C1
Spasticity, Neurofibrillary tangles, Cataplexy, Seizure, Gait ataxia, Neuronal loss in central ne... OMIM:257220
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Seizure, Cerebral atrophy, Neurodegeneration, Chorea, Infantile spasms, Myoclonus, Gait ataxia, G... OMIM:618321
Cerebrooculofacioskeletal Syndrome 1
Cerebellar atrophy, Seizure, Neurodegeneration, Agenesis of corpus callosum, Diffuse cerebral atr... OMIM:214150
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Microcornea, Iris coloboma, Chorioretinal coloboma ORPHA:231736
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Seizure, Gliosis, Hypertonia, Tetraplegia, Spastic tetraplegia OMIM:608033
Parkinson Disease 1, Autosomal Dominant
Shuffling gait, Global brain atrophy, Resting tremor, Myoclonus, Rigidity, Loss of ambulation, Pa... OMIM:168601
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis, Parkinsonism, Neurofibrillary tangles OMIM:606688
Combined Oxidative Phosphorylation Deficiency 14
Cerebral cortical atrophy, Myoclonic seizure, Cerebellar atrophy, Cerebral atrophy, Seizure, Myoc... OMIM:614946
Distal Deletion 6P
Hypoplasia of the iris, Ectopia pupillae, Posterior embryotoxon, Abnormal anterior chamber morpho... ORPHA:96125
2Q24 Microdeletion Syndrome
Cataract, Abnormality iris morphology ORPHA:1617
Traboulsi Syndrome
Cataract, Ectopia lentis, Phakodonesis, Iris atrophy, Spherophakia, Anterior synechiae of the ant... OMIM:601552
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Neurodegeneration, Seizure OMIM:620210
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Spasticity, Spastic tetraplegia, Seizure, Difficulty walking, Neurodegeneration, Rigidity, Agenes... OMIM:618476
Pyruvate Dehydrogenase E2 Deficiency
Broad-based gait, Difficulty walking, Speech apraxia, Neurodegeneration, Babinski sign, Gait dist... ORPHA:79244
Neurodegeneration With Brain Iron Accumulation 4
Spasticity, Cerebellar atrophy, Neurodegeneration, Tremor, Abnormality of extrapyramidal motor fu... OMIM:614298
Cerebral Amyloid Angiopathy, Itm2B-Related, 2
Spasticity, Neurofibrillary tangles, Ataxia, Intention tremor, Cerebral amyloid angiopathy OMIM:117300
Coats Disease
Leukocoria OMIM:300216
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Tongue fasciculations, Cerebellar atrophy, Seizure, Cataplexy, Inability to walk, Epileptic spasm... OMIM:617193
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Alzheimer Disease 2
Parkinsonism, Neurofibrillary tangles OMIM:104310
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Seizure, Cerebral atrophy, Neurodegeneration, Gait ataxia, Gait disturbance, Clonus, Ataxia, Poor... OMIM:616878
Tay-Sachs Disease
Global brain atrophy, Typical absence seizure, Cerebellar atrophy, Seizure, Fasciculations, Incoo... ORPHA:845
Pontocerebellar Hypoplasia, Type 2A
Cerebral cortical atrophy, Seizure, Chorea, Opisthotonus, Gliosis, Extrapyramidal dyskinesia OMIM:277470
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Spasticity, Pseudobulbar paralysis, Babinski sign, Corpus callosum atrophy, Gliosis, Ataxia OMIM:169500
Alzheimer Disease, Familial, 1
Parkinsonism, Neurofibrillary tangles OMIM:104300
Cerebral Visual Impairment
Central nervous system degeneration, Cerebral palsy, Seizure, Neurodegeneration, Clumsiness, Ocul... ORPHA:447788
Neurodegeneration With Brain Iron Accumulation 1
Blepharospasm, Spasticity, Global brain atrophy, Neurodegeneration, Akinesia, Cerebral degenerati... OMIM:234200
X-Linked Recessive Ocular Albinism
Iris hypopigmentation, Abnormal pupil morphology, Astigmatism, Ocular albinism ORPHA:54
Progressive Supranuclear Palsy
Blepharospasm, Cerebral cortical atrophy, Falls, Tremor, Rigidity, Gliosis, Neuronal loss in cent... ORPHA:683
Multiple System Atrophy 1, Susceptibility To
Neurodegeneration, Tremor, Rigidity, Babinski sign, Parkinsonism, Ataxia, Bradykinesia OMIM:146500
Amyotrophic Lateral Sclerosis
Spasticity, Amyotrophic lateral sclerosis, Fasciculations, Neurodegeneration, Babinski sign, Para... ORPHA:803
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Seizure, Diffuse cerebral atrophy, Head titubation, Gliosis, Spastic tetraplegia ORPHA:3240
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Posterior synechiae of the anterior chamber, Developmental cataract OMIM:613154
Sympathetic Ophthalmia
Posterior uveitis, Cataract, Anterior chamber cells, Posterior synechiae of the anterior chamber,... ORPHA:79098
Severe Early-Childhood-Onset Retinal Dystrophy
Abnormal corneal endothelium morphology, Posterior subcapsular cataract, Posterior synechiae of t... ORPHA:364055
Familial Acute Necrotizing Encephalopathy
Spasticity, Seizure, Rigidity, Gait disturbance, Gliosis, Hypertonia, Spastic tetraplegia ORPHA:88619
Ataxia-Telangiectasia-Like Disorder 2
Neurodegeneration, Unsteady gait, Cerebellar atrophy, Ataxia OMIM:615919
Fuchs Heterochromic Iridocyclitis
Cataract, Chorioretinal scar, Corneal keratic precipitates, Iris atrophy, Heterochromia iridis, A... ORPHA:263479
Woolly Hair
Cataract, Abnormal pupil morphology ORPHA:170
Tubulointerstitial Nephritis And Uveitis Syndrome
Posterior uveitis, Cataract, Choroidal neovascularization, Chorioretinal scar, Posterior synechia... ORPHA:91500
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Epilepsia partialis continua, Cerebellar atrophy, Focal myoclonic seizure, Cerebral atrophy, Tetr... OMIM:203700
Norrie Disease
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit... OMIM:310600
Aortic Aneurysm, Familial Thoracic 6
Iris flocculi OMIM:611788
Aniridia 1
Chorioretinal hypopigmentation, Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupilla... OMIM:106210
Retinitis Pigmentosa 97
Iris atrophy OMIM:620422
Hereditary Late-Onset Parkinson Disease
Cerebral cortical atrophy, Shuffling gait, Resting tremor, Akinesia, Rigidity, Parkinsonism, Park... ORPHA:411602
Chediak-Higashi Syndrome
Seizure, Neurodegeneration, Tremor, Gait disturbance, Ataxia OMIM:214500
Niemann-Pick Disease, Type C2
Spasticity, Neurofibrillary tangles, Cataplexy, Seizure, Ataxia OMIM:607625
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Spasticity, Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Neurodegeneratio... OMIM:620455
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology ORPHA:2151
Late-Onset Retinal Degeneration
Choroidal neovascularization, Abnormal anterior eye segment morphology, Chorioretinal atrophy, Ab... ORPHA:67042
Hec Syndrome
Abnormal pupil morphology, Developmental cataract ORPHA:2119
Axenfeld-Rieger Syndrome, Type 1
Microcornea, Abnormally prominent line of Schwalbe, Ectopia pupillae, Megalocornea, Hypoplasia of... OMIM:180500
Unilateral Ocular Duplication
Microcornea, Abnormal pupil morphology, Iris coloboma ORPHA:3374
Mucopolysaccharidosis, Type Ii
Neurodegeneration, Seizure OMIM:309900
Congenital Muscular Dystrophy With Cerebellar Involvement
Cataract, Abnormality iris morphology, Megalocornea ORPHA:370959
Juvenile Glaucoma
Abnormality iris morphology, Abnormal anterior chamber morphology ORPHA:98977
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Spasticity, Broad-based gait, Neurodegeneration, Progressive spastic quadriplegia, Isometric trem... OMIM:619475
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 iris, Rieger anomaly, Uveal ectropion, Hypoplasia of the ciliary body... OMIM:609049
Nijmegen Breakage Syndrome
Neurodegeneration, Glioma 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
Neurodegeneration, Seizure, 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.

Order Mouse and ES Cells

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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