Gene Summary

Name:
zinc finger protein 597
Synonyms:
4933407K12Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 6.06×10-11

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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 Skull Lateral Orientation

7 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

7 Images

X-ray

XRay Images Whole Body Lateral Orientation

7 Images

X-ray

XRay Images Forepaw

7 Images

X-ray

XRay Images Whole Body Dorso Ventral

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
phenotypes
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
Neurodegeneration, Seizure OMIM:613068
Heterochromia Iridis
Asymmetry of iris pigmentation, Heterochromia iridis OMIM:142500
Diaminopentanuria
Ataxia, Neurodegeneration, Spasticity, Seizure OMIM:222350
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Corneal neovascularization, Developmental... OMIM:617315
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract OMIM:616722
Iridocorneal Endothelial Syndrome
Hypoplastic iris stroma, Polycoria, Corneal stromal edema, Ectopia pupillae, Iris nevus, Uveal ec... ORPHA:64734
Peters Anomaly
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... ORPHA:708
Huntington Disease
Neuronal loss in central nervous system, Gliosis, Bradykinesia, Rigidity, Chorea, Gait ataxia, Ce... OMIM:143100
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Hypoplasia of the iris, Cataract, Iris transillum... OMIM:617319
Leukoencephalopathy, Progressive, With Ovarian Failure
Ataxia, Neurodegeneration, Tremor, Spasticity, Cerebellar atrophy, Apraxia OMIM:615889
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Ectopia pupillae, Corneal opacity OMIM:608484
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Ceroid Lipofuscinosis, Neuronal, 8
Ataxia, Cerebral atrophy, Myoclonus, Increased neuronal autofluorescent lipopigment, Cerebellar a... OMIM:600143
Ceroid Lipofuscinosis, Neuronal, 7
Ataxia, Cerebral atrophy, Generalized myoclonic seizure, Neurodegeneration, Cerebellar atrophy OMIM:610951
Progressive Multifocal Leukoencephalopathy
Hemiplegia/hemiparesis, Dysmetria, Parkinsonism, Weakness due to upper motor neuron dysfunction, ... ORPHA:217260
Corneal Dystrophy, Posterior Polymorphous, 1
Corneal opacity, Band keratopathy, Thinning of Descemet membrane, Abnormal Descemet membrane morp... OMIM:122000
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Ataxia, Myoclonus, Parkinsonism, Myoclonic seizure, Bilateral tonic-clonic seizure, Increased neu... OMIM:162350
X-Linked Corneal Dermoid
Corneal opacity, Abnormal pupil morphology ORPHA:1661
Anterior Segment Dysgenesis 5
Posterior embryotoxon, Microcornea, Peters anomaly, Rieger anomaly, Hypoplasia of the iris, Devel... OMIM:604229
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Cataract OMIM:610092
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Ataxia, Cerebral cortical atrophy, Cerebral atrophy, Abnormal pyramidal sign, Parkinsonism, Rigid... OMIM:617672
Pelizaeus-Merzbacher Disease
Broad-based gait, Ataxia, Inability to walk, Cerebellar vermis atrophy, Intention tremor, Abnorma... OMIM:312080
Facial Spasm
Anisocoria OMIM:134300
Deafness, Autosomal Recessive 108
Iris coloboma OMIM:617654
Anterior Segment Dysgenesis 3
Hypoplastic iris stroma, Abnormal iris vasculature, Ectopia pupillae, Axenfeld anomaly, Posterior... OMIM:601631
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Cerebral atrophy, Spastic paraparesis, Rigidity, Parkinsonism, Neurodegeneration, T... OMIM:300894
Developmental And Epileptic Encephalopathy 14
Status epilepticus, Neuronal loss in central nervous system, Cerebral cortical atrophy, Gliosis, ... OMIM:614959
Spinocerebellar Ataxia 17
Broad-based gait, Ataxia, Neuronal loss in central nervous system, Bradykinesia, Gliosis, Dysmetr... OMIM:607136
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Neuronal loss in central nervous system, Gliosis, Bradykinesia, Rigidity, Parkinsonism, Corpus ca... OMIM:221820
Dravet Syndrome
Status epilepticus, Ataxia, Atonic seizure, Focal hemiclonic seizure, Cerebral atrophy, Focal imp... OMIM:607208
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Ataxia, Dysmetria, Ankle clonus, Dysdiadochokinesis, Babinski sign, Neurodegeneration, Atrophy/De... OMIM:612319
Spinocerebellar Ataxia, Autosomal Recessive 27
Torticollis, Gliosis, Cerebral atrophy, Frequent falls, Gait ataxia, Spasticity, Cerebellar atrophy OMIM:618369
Anterior Segment Dysgenesis 2
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o... OMIM:610256
Ceroid Lipofuscinosis, Neuronal, 2
Ataxia, Cerebral atrophy, Myoclonus, Increased extraneuronal autofluorescent lipopigment, Increas... OMIM:204500
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Epilepsy, Progressive Myoclonic 7
Ataxia, Myoclonus, Tremor, Cerebellar atrophy, Seizure OMIM:616187
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Ataxia, Cerebral atrophy, Myoclonus, Bilateral tonic-clonic seizure, Increased neuronal autofluor... OMIM:204300
Spinocerebellar Ataxia 23
Neuronal loss in central nervous system, Dysmetria, Impaired vibration sensation in the lower lim... OMIM:610245
Microphthalmia, Isolated, With Coloboma 10
Iris coloboma, Microcoria, Chorioretinal coloboma OMIM:616428
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Neuronal loss in central nervous system, Gliosis, Cerebral atrophy, Myoclonus, Distal sensory imp... OMIM:604218
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Spinocerebellar Ataxia Type 15/16
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Ataxia, Bradykinesia, Cerebral atrophy, Spastic paraparesis, Dysmetria, Axonal degeneration, Dysd... OMIM:615157
Spinocerebellar Ataxia 35
Torticollis, Ataxia, Loss of ambulation, Pseudobulbar paralysis, Dysmetria, Intention tremor, Bab... OMIM:613908
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... OMIM:309300
Ceroid Lipofuscinosis, Neuronal, 5
Ataxia, Clumsiness, Dysmetria, Dysdiadochokinesis, Myoclonus, Cerebellar atrophy, Increased neuro... OMIM:256731
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Microspherophakia, Megalocornea, Iridodonesis, Deep anterior chamber, Ectopia lentis OMIM:251750
Iris Hypoplasia With Glaucoma
Hypoplasia of the iris, Iris atrophy OMIM:308500
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology
Senile plaques, Seizure, Neurofibrillary tangles OMIM:605055
Lichtenstein-Knorr Syndrome
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia, Cerebellar atrophy OMIM:616291
Spinocerebellar Ataxia, Autosomal Recessive 2
Ataxia, Gliosis, Limb ataxia, Dysmetria, Tremor, Gait ataxia, Spasticity, Unsteady gait, Incoordi... OMIM:213200
Posterior Polymorphous Corneal Dystrophy
Corneal opacity, Abnormal Descemet membrane morphology, Corneal stromal edema, Ectopia pupillae, ... ORPHA:98973
Glaucoma, Primary Closed-Angle
Anterior synechiae of the anterior chamber OMIM:618880
Loose Anagen Syndrome
Iris coloboma ORPHA:168
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gliosis, Hand tremor, Axonal degeneration, Degeneration of anterior horn cells, Distal sensory im... OMIM:604484
Neurodegeneration With Brain Iron Accumulation 6
Bradykinesia, Spastic paraparesis, Tip-toe gait, Rigidity, Neurodegeneration, Gait disturbance, S... OMIM:615643
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Alzheimer Disease 3
Cerebral cortical atrophy, Myoclonus, Babinski sign, Neurofibrillary tangles, Apraxia, Gait distu... OMIM:607822
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Ataxia, Focal impaired awareness seizure, Generalized myoclonic seizure, Myoclonic seizure, Tremo... OMIM:617831
Spastic Paraplegia 79, Autosomal Recessive
Ataxia, Cerebral atrophy, Dysmetria, Intention tremor, Ankle clonus, Babinski sign, Neurodegenera... OMIM:615491
Neurodegeneration With Brain Iron Accumulation 2A
Neuronal loss in central nervous system, Ataxia, Gliosis, Cerebral atrophy, Abnormal pyramidal si... OMIM:256600
Cataract 21, Multiple Types
Cortical pulverulent cataract, Iris coloboma, Cerulean cataract, Microcornea OMIM:610202
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Corneal opacity, Shallow anterior chamber, Buphthalmos, Microcornea, Iris coloboma, Uveitis, Cata... OMIM:221900
Weill-Marchesani Syndrome 4
Phakodonesis, Iridodonesis, Ectopia lentis OMIM:613195
Bilateral Acute Depigmentation Of The Iris
Hypoplastic iris stroma, Iris pigment dispersion, Abnormal anterior chamber morphology, Pigment d... ORPHA:69736
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Hypertonia, Neuronal loss in central nervous system, Gliosis, Multifocal seizures, Generalized my... OMIM:614498
Alzheimer Disease 9, Susceptibility To
Senile plaques, Cerebral cortical atrophy, Hippocampal atrophy, Neurofibrillary tangles, Abnormal... OMIM:608907
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Neuronal loss in central nervous system, Gliosis, Cerebral atrophy, Myoclonus, Abnormal p... ORPHA:204
Exfoliation Syndrome
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... OMIM:177650
Neurodegeneration With Brain Iron Accumulation 2B
Hypertonia, Bradykinesia, Cerebral atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Babi... OMIM:610217
Aniridia 2
Iris coloboma, Lens subluxation, Cataract, Aniridia OMIM:617141
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Gliosis, Paralysis, Athetosis OMIM:300857
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Paraparesis, Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Gliosis, Cer... OMIM:105550
Huntington Disease-Like 1
Clumsiness, Bradykinesia, Poor fine motor coordination, Dysmetria, Cerebral cortical atrophy, Gli... ORPHA:157941
Spinocerebellar Ataxia 29
Broad-based gait, Diffuse cerebellar atrophy, Cerebellar vermis atrophy, Truncal titubation, Foca... OMIM:117360
Spastic Paraplegia 50, Autosomal Recessive
Gliosis, Cerebral palsy, Babinski sign, Spastic paraplegia, Spastic tetraplegia, Cerebellar atrop... OMIM:612936
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Gait ataxia, Neurodegeneration, Cerebellar atrophy ORPHA:438134
Gerstmann-Straussler Disease
Bradykinesia, Limb ataxia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, Neurofibrillary tan... OMIM:137440
Developmental And Epileptic Encephalopathy 24
Status epilepticus, Ataxia, Clonic seizure, Myoclonic seizure, Febrile seizure (within the age ra... OMIM:615871
Early-Onset Autosomal Dominant Alzheimer Disease
Hypertonia, Ataxia, Cerebral cortical atrophy, Myoclonus, Parkinsonism, Neurofibrillary tangles, ... ORPHA:1020
Combined Oxidative Phosphorylation Deficiency 14
Gliosis, Cerebral atrophy, Myoclonus, Atrophy/Degeneration affecting the brainstem, Diffuse cereb... OMIM:614946
Combined Oxidative Phosphorylation Deficiency 24
Status epilepticus, Neuronal loss in central nervous system, Gliosis, Neurodegeneration, Spastici... OMIM:616239
L-2-Hydroxyglutaric Aciduria
Gliosis, Abnormal pyramidal sign, Corpus callosum atrophy, Global brain atrophy, Cerebellar atrop... OMIM:236792
Axenfeld-Rieger Syndrome, Type 3
Posterior synechiae of the anterior chamber, Ectopia pupillae, Hypoplasia of the iris, Posterior ... OMIM:602482
Early-onset Alzheimer disease with cerebral amyloid angiopathy
Senile plaques, Neurofibrillary tangles DECIPHER:48
Spinocerebellar Ataxia Type 17
Torticollis, Ataxia, Neuronal loss in central nervous system, Blepharospasm, Cerebellar Purkinje ... ORPHA:98759
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract, Persistent pupillary membrane ORPHA:1067
Congenital Neuronal Ceroid Lipofuscinosis
Status epilepticus, Gliosis, Myoclonic seizure, Abnormal astrocyte morphology, Spasticity, Cerebe... ORPHA:168486
Hemimegalencephaly
Status epilepticus, Focal motor seizure, Gliosis, Atonic seizure, Myoclonus, Hemiparesis, Epilept... ORPHA:99802
Idiopathic Anterior Uveitis
Posterior synechiae of the anterior chamber, Nuclear cataract, Posterior subcapsular cataract ORPHA:280914
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Neuronal loss in central nervous system, Cerebral cortical atrophy, Gliosis, Parkinsonism, Neurof... OMIM:607485
Aniridia-Intellectual Disability Syndrome
Cataract, Ectopia lentis, Aniridia ORPHA:1068
Gm2-Gangliosidosis, Ab Variant
Hypertonia, Exaggerated startle response, Cerebral atrophy, Abnormal pyramidal sign, Neurodegener... OMIM:272750
Amoebic Keratitis
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo... ORPHA:67043
Oculoauricular Syndrome
Microphakia, Chorioretinal atrophy, Posterior embryotoxon, Microcornea, Iris coloboma, Cataract, ... OMIM:612109
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Blepharospasm, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, Chorea, Neurodegenera... OMIM:606159
Frontotemporal Dementia With Motor Neuron Disease
Paraparesis, Gliosis, Progressive cerebellar ataxia, Babinski sign, Parkinsonism, Weakness due to... ORPHA:275872
Phacoanaphylactic Uveitis
Keratitis, Pseudophakia, Hypopyon, Panuveitis, Abnormal pupil morphology, Corneal stromal edema, ... ORPHA:209959
Pick Disease Of Brain
Motor stereotypy, Neuronal loss in central nervous system, Gliosis OMIM:172700
Immunodeficiency 83, Susceptibility To Viral Infections
Gliosis, Hemiparesis, Seizure OMIM:613002
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Cerebral atrophy, Abnormal pyramidal sign, Neurodegeneration, Progr... ORPHA:309246
Pontocerebellar Hypoplasia, Type 4
Hypertonia, Gliosis, Myoclonus, Spasticity, Seizure OMIM:225753
Adrenoleukodystrophy
Paraparesis, Impaired vibration sensation at ankles, Limb ataxia, Truncal ataxia, Neurodegenerati... OMIM:300100
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Gliosis, Cerebral atrophy, Myoclonus, Babinski sign, Gait disturbance, Spasticity, Seizure, Aprax... OMIM:221770
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ataxia, Rigidity, Neurodegeneration, Spasticity, Spastic tetraplegia, Seizure, Agenesis of corpus... OMIM:618476
Krabbe Disease
Hypertonia, Decerebrate rigidity, Neurodegeneration, Progressive spasticity, Diffuse cerebral atr... OMIM:245200
Supranuclear Palsy, Progressive, 1
Gait imbalance, Senile plaques, Akinesia, Neuronal loss in central nervous system, Bradykinesia, ... OMIM:601104
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis, Global brain atrophy, Neurofibrillary tangles OMIM:619132
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Alzheimer Disease 4
Apraxia, Senile plaques, Cerebral amyloid angiopathy, Neurofibrillary tangles OMIM:606889
Spinocerebellar Ataxia, X-Linked 3
Neuronal loss in central nervous system, Gliosis, Dysmetria, Intention tremor, Unilateral vocal c... OMIM:301790
Parkinson Disease 23, Autosomal Recessive Early-Onset
Akinesia, Cerebral cortical atrophy, Resting tremor, Abnormal pyramidal sign, Rigidity, Parkinson... OMIM:616840
Machado-Joseph Disease
Ataxia, Gliosis, Progressive cerebellar ataxia, Bradykinesia, Limb ataxia, Impaired vibratory sen... OMIM:109150
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Iris coloboma, Anterior synechiae of the anterior chamber, Microcornea ORPHA:3214
Idiopathic Panuveitis
Posterior synechiae of the anterior chamber, Cataract, Choroidal neovascularization, Conjunctival... ORPHA:280921
Hsd10 Disease, Infantile Type
Loss of ambulation, Cerebral atrophy, Poor coordination, Spastic diplegia, Hyperkinetic movements... ORPHA:391428
Supranuclear Palsy, Progressive, 2
Gait imbalance, Akinesia, Neuronal loss in central nervous system, Bradykinesia, Gliosis, Retroco... OMIM:609454
Adult-Onset Dystonia-Parkinsonism
Parkinsonism with favorable response to dopaminergic medication, Clumsiness, Bradykinesia, Myoclo... ORPHA:199351
Intermediate Uveitis
Posterior synechiae of the anterior chamber, Band keratopathy, Cataract, Anterior uveitis ORPHA:279914
Cerebrooculofacioskeletal Syndrome 1
Gliosis, Brain atrophy, Neurodegeneration, Diffuse cerebral atrophy, Cerebellar atrophy, Seizure,... OMIM:214150
Microcephaly 10, Primary, Autosomal Recessive
Hypertonia, Gliosis, Cerebral atrophy, Spasticity, Cerebellar atrophy OMIM:615095
Niemann-Pick Disease, Type C1
Neuronal loss in central nervous system, Ataxia, Cataplexy, Neurofibrillary tangles, Gait ataxia,... OMIM:257220
Combined Oxidative Phosphorylation Defect Type 29
Diffuse cerebellar atrophy, Axonal degeneration, Poor coordination, Neurodegeneration, Myoclonic ... ORPHA:478029
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Ataxia, Gliosis, Cerebral atrophy, Myoclonus, Infantile spasms, Neurodegeneration, Chorea, Gait a... OMIM:618321
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Status epilepticus, Hypertonia, Gliosis, Cerebral atrophy, Opisthotonus, Cerebral palsy, Babinski... OMIM:619847
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Hypertonia, Gliosis, Spastic tetraplegia, Seizure, Tetraplegia OMIM:608033
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Iris coloboma, Posterior lenticonus, Microcornea, Chorioretinal coloboma ORPHA:231736
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ataxia, Gliosis, Inability to walk, Cerebral atrophy, Cerebellar gliosis, Basal ganglia gliosis, ... ORPHA:79243
2Q24 Microdeletion Syndrome
Cataract, Abnormality iris morphology ORPHA:1617
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis OMIM:606688
Distal Monosomy 6P
Corneal opacity, Abnormal anterior chamber morphology, Ectopia pupillae, Posterior embryotoxon, H... ORPHA:96125
Leukoencephalopathy With Vanishing White Matter
Gliosis, Gait disturbance, Spasticity, Unsteady gait, Seizure OMIM:603896
Coats Disease
Leukocoria OMIM:300216
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Ataxia, Inability to walk, Cataplexy, Neuronal loss in central nervous system, Gliosis, Generaliz... OMIM:617193
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Status epilepticus, Hypertonia, Ataxia, Neuronal loss in central nervous system, Gliosis, Myoclon... OMIM:203700
Progressive Supranuclear Palsy
Neuronal loss in central nervous system, Cerebral cortical atrophy, Blepharospasm, Bradykinesia, ... ORPHA:683
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Spherophakia, Shallow anterior chamber, Spontaneous conjunctival filtering bleb, Cataract, Anteri... OMIM:601552
Cerebral Amyloid Angiopathy, Itm2B-Related, 2
Ataxia, Intention tremor, Neurofibrillary tangles, Spasticity, Cerebral amyloid angiopathy OMIM:117300
Neurodegeneration With Brain Iron Accumulation 4
Ataxia, Loss of ambulation, Babinski sign, Parkinsonism, Abnormal pyramidal sign, Neurodegenerati... OMIM:614298
Pontocerebellar Hypoplasia, Type 2A
Cerebral cortical atrophy, Gliosis, Opisthotonus, Extrapyramidal dyskinesia, Chorea, Seizure OMIM:277470
Neurodegeneration With Brain Iron Accumulation 1
Ataxia, Akinesia, Blepharospasm, Bradykinesia, Babinski sign, Abnormal pyramidal sign, Parkinsoni... OMIM:234200
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Neurodegeneration, Paralysis, Spasticity, Motor neuron atrophy ORPHA:803
Pyruvate Dehydrogenase E2 Deficiency
Broad-based gait, Hypertonia, Babinski sign, Neurodegeneration, Gait disturbance, Difficulty walk... ORPHA:79244
Ataxia-Telangiectasia-Like Disorder 2
Ataxia, Neurodegeneration, Unsteady gait, Cerebellar atrophy OMIM:615919
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Motor stereotypy, Gliosis, Hyperkinetic movements, Gait disturbance, Tremor, Bilateral tonic-clon... ORPHA:457240
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Ataxia, Gliosis, Pseudobulbar paralysis, Babinski sign, Corpus callosum atrophy, Spasticity OMIM:169500
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ataxia, Cerebral atrophy, Poor coordination, Spastic diplegia, Neurodegeneration, Gait disturbanc... OMIM:616878
Tay-Sachs Disease
Typical absence seizure, Inability to walk, Clumsiness, Exaggerated startle response, Dysmetria, ... ORPHA:845
Cerebral Visual Impairment
Clumsiness, Cerebral palsy, Neurodegeneration, Seizure, Oculomotor apraxia, Central nervous syste... ORPHA:447788
X-Linked Recessive Ocular Albinism
Iris hypopigmentation, Astigmatism, Abnormal pupil morphology, Ocular albinism ORPHA:54
Primary Non-Essential Cutis Verticis Gyrata
Gliosis, Seizure ORPHA:357225
Alzheimer Disease 2
Parkinsonism, Neurofibrillary tangles OMIM:104310
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Gliosis, Head titubation, Diffuse cerebral atrophy, Spastic tetraplegia, Seizure ORPHA:3240
Alzheimer Disease, Familial, 1
Parkinsonism, Neurofibrillary tangles OMIM:104300
Lissencephaly, X-Linked, 2
Gliosis, Agenesis of corpus callosum, Spasticity, Seizure OMIM:300215
Intellectual Developmental Disorder, X-Linked 12
Gliosis, Hyperkinetic movements, Gait disturbance, Tremor, Spasticity, Seizure OMIM:300957
Multiple System Atrophy 1, Susceptibility To
Ataxia, Bradykinesia, Babinski sign, Rigidity, Parkinsonism, Neurodegeneration, Tremor OMIM:146500
Familial Acute Necrotizing Encephalopathy
Hypertonia, Gliosis, Rigidity, Gait disturbance, Spasticity, Spastic tetraplegia, Seizure ORPHA:88619
Leigh Syndrome
Ataxia, Gliosis, Spasticity, Seizure OMIM:256000
Severe Early-Childhood-Onset Retinal Dystrophy
Posterior synechiae of the anterior chamber, Chorioretinal atrophy, Abnormal corneal endothelium ... ORPHA:364055
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Tremor, Ataxia, Gliosis, Seizure OMIM:220111
Woolly Hair
Abnormal pupil morphology, Cataract ORPHA:170
Parkinson Disease 1, Autosomal Dominant
Gliosis, Bradykinesia, Resting tremor, Myoclonus, Rigidity, Parkinsonism, Gait disturbance, Shuff... OMIM:168601
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Pelizaeus-Merzbacher Disease, Connatal Form
Ataxia, Inability to walk, Gliosis, Titubation, Difficulty walking, Lower limb spasticity, Dyston... ORPHA:280210
Tubulointerstitial Nephritis And Uveitis Syndrome
Panuveitis, Iris nevus, Anterior chamber flare, Anterior uveitis, Posterior uveitis, Chorioretina... ORPHA:91500
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Degeneration of anterior horn cells, Gliosis, Parkinsonism, Trophic limb changes OMIM:118301
Norrie Disease
Corneal opacity, Shallow anterior chamber, Buphthalmos, Opacification of the corneal stroma, Hypo... OMIM:310600
Hereditary Late-Onset Parkinson Disease
Akinesia, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Cerebral... ORPHA:411602
Niemann-Pick Disease, Type C2
Motor stereotypy, Ataxia, Cataplexy, Neurofibrillary tangles, Spasticity, Seizure OMIM:607625
Aortic Aneurysm, Familial Thoracic 6
Iris flocculi OMIM:611788
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Status epilepticus, Ataxia, Cerebral cortical atrophy, Gliosis, Myoclonus, Babinski sign, Truncal... OMIM:301072
Chediak-Higashi Syndrome
Ataxia, Neurodegeneration, Gait disturbance, Tremor, Seizure OMIM:214500
Aniridia 1
Corneal neovascularization, Ectopia pupillae, Opacification of the corneal stroma, Chorioretinal ... OMIM:106210
Molybdenum Cofactor Deficiency, Complementation Group B
Hypertonia, Gliosis, Cerebral atrophy, Opisthotonus, Myoclonic spasms, Spastic tetraplegia, Seizure OMIM:252160
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology ORPHA:2151
Late-Onset Retinal Degeneration
Abnormal suspensory ligament of lens morphology, Chorioretinal atrophy, Abnormal anterior eye seg... ORPHA:67042
Hec Syndrome
Abnormal pupil morphology, Developmental cataract ORPHA:2119
Axenfeld-Rieger Syndrome, Type 1
Polycoria, Abnormally prominent line of Schwalbe, Ectopia pupillae, Megalocornea, Posterior embry... OMIM:180500
Mitochondrial Complex I Deficiency, Nuclear Type 2
Gliosis, Ankle clonus, Falls, Difficulty walking, Seizure OMIM:618222
Triopia
Iris coloboma, Abnormal pupil morphology, Microcornea ORPHA:3374
Mucopolysaccharidosis, Type Ii
Neurodegeneration, Seizure OMIM:309900
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Isometric tremor, Ataxia, Infantile spasms, Falls, Tics, Spasticity, Broad-based gait, Hypertonia... OMIM:619475
Cerebrotendinous Xanthomatosis
Paraparesis, Ataxia, Gliosis, Spastic paraparesis, Resting tremor, Axonal degeneration, Babinski ... ORPHA:909
Congenital Muscular Dystrophy With Cerebellar Involvement
Megalocornea, Cataract, Abnormality iris morphology ORPHA:370959
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
Nijmegen Breakage Syndrome
Glioma, Neurodegeneration OMIM:251260
Hurler Syndrome
Neurodegeneration OMIM:607014
Pierson Syndrome
Uveal ectropion, Posterior lenticonus, Rieger anomaly, Cataract, Hypoplasia of the iris, Hypoplas... OMIM:609049
Oculodentodigital Dysplasia
Cataract, Microcornea, Abnormality iris morphology ORPHA:2710
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Abnormality iris morphology ORPHA:91387
Primrose Syndrome
Motor stereotypy, Ataxia, Neurodegeneration, Tics, Seizure 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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