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Gene: Zfp597 MGI:1918313

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Gene Summary

Name:
zinc finger protein 597
Synonyms:
4933407K12Rik

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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 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.

X-ray

XRay Images Forepaw

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X-ray

XRay Images Skull Lateral Orientation

7 Images

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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 Dorso Ventral Orientation

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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
Megalocornea, Persistent pupillary membrane, Developmental cataract OMIM:178900
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration, Seizure OMIM:613068
Diaminopentanuria
Spasticity, Neurodegeneration, Seizure, Ataxia OMIM:222350
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Anterior Segment Dysgenesis 6
Developmental glaucoma, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane m... 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
Abnormal migration of corneal endothelium, Central heterochromia, Posterior synechiae of the ante... ORPHA:64734
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Anterior synechiae of the anterior c... ORPHA:708
Huntington Disease
Gait ataxia, Chorea, Seizure, Rigidity, Neuronal loss in central nervous system, Gliosis, Cerebel... OMIM:143100
Anterior Segment Dysgenesis 8
Iris transillumination defect, Persistent pupillary membrane, Hypoplasia of the iris, Uveal ectro... OMIM:617319
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... OMIM:269400
Developmental And Epileptic Encephalopathy 14
Spasticity, Cerebral cortical atrophy, Tetraplegia, Focal motor seizure, Generalized tonic seizur... OMIM:614959
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Progressive Multifocal Leukoencephalopathy
Gait ataxia, Somatic sensory dysfunction, Paresthesia, Seizure, Parkinsonism, Hemiplegia/hemipare... ORPHA:217260
Ceroid Lipofuscinosis, Neuronal, 7
Generalized myoclonic seizure, Ataxia, Cerebral atrophy, Cerebellar atrophy, Neurodegeneration OMIM:610951
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Myoclonic seizure, Seizure, Parkinsonism, Abnormality of extrapyramidal motor function, Myoclonus... OMIM:162350
Ceroid Lipofuscinosis, Neuronal, 8
Seizure, Myoclonus, Ataxia, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Cer... OMIM:600143
Spinocerebellar Ataxia 41
Gait ataxia, Cerebellar vermis atrophy, Ataxia, Cerebellar atrophy, Unsteady gait OMIM:616410
Corneal Dystrophy, Posterior Polymorphous, 1
Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog... OMIM:122000
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Cataract OMIM:610092
Anterior Segment Dysgenesis 5
Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior... OMIM:604229
Facial Spasm
Anisocoria OMIM:134300
Pelizaeus-Merzbacher Disease
Global brain atrophy, Cerebellar vermis atrophy, Abnormal pyramidal sign, Seizure, Inability to w... OMIM:312080
Deafness, Autosomal Recessive 108
Iris coloboma OMIM:617654
Dravet Syndrome
Myoclonic seizure, Generalized clonic seizure, Abnormal pyramidal sign, Focal aware seizure, Gene... OMIM:607208
Anterior Segment Dysgenesis 3
Rieger anomaly, Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Peters anomaly,... OMIM:601631
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Global brain atrophy, Somatic sensory dysfunction, Spasticity, Shuffling gait, Seizure, Parkinson... OMIM:221820
Spinocerebellar Ataxia 17
Gait ataxia, Chorea, Seizure, Parkinsonism, Rigidity, Apraxia, Myoclonus, Limb ataxia, Diffuse ce... OMIM:607136
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Gait ataxia, Cerebral cortical atrophy, Seizure, Focal-onset seizure, Abnormality of extrapyramid... OMIM:615362
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Ankle clonus, Seizure, Dysdiadochokinesis, Ataxia, Babinski sign, Spastic paraplegia, Spastic tet... OMIM:612319
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Focal-onset seizure, Abnormality of extrapyramidal motor function, Myoclonus, Status epilepticus ... OMIM:204300
Anterior Segment Dysgenesis 2
Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters anomaly, Cor... OMIM:610256
Cataract-Microcornea Syndrome
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy ORPHA:1377
Spinocerebellar Ataxia 40
Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Intention tremor, Spastic paraparesis, Dys... OMIM:616053
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Chorea, Spasticity, Cerebral cortical atrophy, Abnormal pyramidal sign, Seizure, Inability to wal... OMIM:617672
Leukoencephalopathy, Progressive, With Ovarian Failure
Spasticity, Lateral ventricle dilatation, Apraxia, Hand tremor, Ataxia, Babinski sign, Cerebellar... OMIM:615889
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Seizure, Abnormality of extrapyramidal motor function, Myoclonus, Neuronal loss in central nervou... OMIM:604218
Weill-Marchesani Syndrome 4
Phakodonesis, Posterior synechiae of the anterior chamber, Ectopia lentis, Shallow anterior chamb... OMIM:613195
Spinocerebellar Ataxia 23
Gait ataxia, Impaired vibration sensation in the lower limbs, Limb ataxia, Babinski sign, Neurona... OMIM:610245
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Head tremor, Action t... ORPHA:98769
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Corneal dystrophy, Ectopia pupillae OMIM:612868
Ceroid Lipofuscinosis, Neuronal, 5
Cerebral cortical atrophy, Seizure, Dysdiadochokinesis, Clumsiness, Myoclonus, Ataxia, Dysmetria,... OMIM:256731
Myoclonic Epilepsy, Familial Infantile
Gait ataxia, Febrile seizure (within the age range of 3 months to 6 years), Seizure, Focal-onset ... OMIM:605021
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Megalocornea, Deep anterior chamber, Ectopia lentis, Microspherophakia, Iridodonesis OMIM:251750
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology
Senile plaques, Seizure, Neurofibrillary tangles OMIM:605055
Megalocornea
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... OMIM:309300
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Iris coloboma, Chorioretinal coloboma OMIM:616428
Lichtenstein-Knorr Syndrome
Gait ataxia, Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Action tremor, Cerebellar atrophy OMIM:616291
Spinocerebellar Ataxia, Autosomal Recessive 2
Gait ataxia, Spasticity, Cerebellar vermis atrophy, Limb ataxia, Incoordination, Ataxia, Dysmetri... OMIM:213200
Posterior Polymorphous Corneal Dystrophy
Reduced number of corneal endothelial cells, Anterior synechiae of the anterior chamber, Abnormal... ORPHA:98973
Glaucoma, Primary Closed-Angle
Anterior synechiae of the anterior chamber OMIM:618880
Loose Anagen Syndrome
Iris coloboma ORPHA:168
Alzheimer Disease 3
Cerebral cortical atrophy, Seizure, Apraxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:607822
Spinocerebellar Ataxia, Autosomal Recessive 27
Gait ataxia, Spasticity, Cerebral cortical atrophy, Spastic ataxia, Gait imbalance, Torticollis, ... OMIM:618369
Ectopia Lentis Et Pupillae
Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Spastic Paraplegia 79B, Autosomal Recessive
Hoffmann sign, Impaired vibration sensation at ankles, Ankle clonus, Postural tremor, Ataxia, Spa... OMIM:615491
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Gait ataxia, Gait apraxia, Cerebral cortical atrophy, Dysdiadochokinesis, Resting tremor, Apraxia... OMIM:615157
Neurodegeneration With Brain Iron Accumulation 6
Tip-toe gait, Spastic tetraplegia, Rigidity, Gait disturbance, Spastic paraparesis, Neurodegenera... OMIM:615643
Alzheimer Disease 9, Susceptibility To
Cerebral cortical atrophy, Abnormality of extrapyramidal motor function, Hippocampal atrophy, Neu... OMIM:608907
Bilateral Acute Depigmentation Of The Iris
Abnormal iris pigmentation, Pigment deposition in the trabecular meshwork, Iris pigment dispersio... ORPHA:69736
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Axonal degeneration, Degeneration of anterior horn cells, Gait disturbance, Hand tremor, Gliosis,... OMIM:604484
Neurodegeneration With Brain Iron Accumulation 2A
Abnormal pyramidal sign, Seizure, Spastic tetraplegia, Ataxia, Neuronal loss in central nervous s... OMIM:256600
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Leukocoria, Posterior synechiae of the anterior chamber, Uveitis, Microcornea, Buphthalmos, Iris ... OMIM:221900
Exfoliation Syndrome
Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ... OMIM:177650
Sporadic Creutzfeldt-Jakob Disease
Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Myoclonus, Upp... ORPHA:204
L-2-Hydroxyglutaric Aciduria
Global brain atrophy, Abnormal pyramidal sign, Seizure, Abnormality of extrapyramidal motor funct... OMIM:236792
Neurodegeneration With Brain Iron Accumulation 2B
Gait ataxia, Chorea, Spasticity, Seizure, Dysdiadochokinesis, Babinski sign, Dysmetria, Cerebral ... OMIM:610217
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Extrapyramidal dyskinesia, Parkinsonism, Apraxia, Paraparesis, Neuronal loss in central nervous s... OMIM:105550
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Paralysis, Amyotrophic lateral sclerosis, Gliosis OMIM:300857
Aniridia 2
Lens subluxation, Cataract, Iris coloboma, Aniridia OMIM:617141
Gerstmann-Straussler Disease
Gait ataxia, Spasticity, Parkinsonism, Truncal ataxia, Rigidity, Apraxia, Myoclonus, Limb ataxia,... OMIM:137440
Neurodegeneration With Brain Iron Accumulation 5
Seizure, Akinesia, Parkinsonism, Rigidity, Spastic paraparesis, Tremor, Cerebral atrophy, Cerebel... OMIM:300894
Cataract 21, Multiple Types
Cortical pulverulent cataract, Cerulean cataract, Microcornea, Iris coloboma, Peters anomaly, Cor... OMIM:610202
Huntington Disease-Like 1
Poor fine motor coordination, Gait ataxia, Chorea, Cerebral cortical atrophy, Seizure, Clumsiness... ORPHA:157941
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Cerebellar atrophy, Neurodegeneration, Gait ataxia ORPHA:438134
Early-Onset Autosomal Dominant Alzheimer Disease
Cerebral cortical atrophy, Seizure, Parkinsonism, Apraxia, Oculomotor apraxia, Myoclonus, Ataxia,... ORPHA:1020
Spinocerebellar Ataxia Type 17
Chorea, Spasticity, Blepharospasm, Abnormal pyramidal sign, Parkinsonism, Rigidity, Torticollis, ... ORPHA:98759
Early-onset Alzheimer disease with cerebral amyloid angiopathy
Senile plaques, Neurofibrillary tangles DECIPHER:48
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Spasticity, Seizure, Lateral ventricle dilatation, Apraxia, Myoclonus, Gait disturbance, Babinski... OMIM:221770
Axenfeld-Rieger Syndrome, Type 3
Posterior synechiae of the anterior chamber, Hypoplasia of the iris, Posterior embryotoxon, Ectop... OMIM:602482
Hemimegalencephaly
Seizure, Focal motor seizure, Hemiparesis, Myoclonus, Focal tonic seizure, Status epilepticus, At... ORPHA:99802
Idiopathic Anterior Uveitis
Posterior synechiae of the anterior chamber, Posterior subcapsular cataract, Nuclear cataract ORPHA:280914
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Cerebral cortical atrophy, Lateral ventricle dilatation, Parkinsonism, Apraxia, Neuronal loss in ... OMIM:607485
Gm2-Gangliosidosis, Ab Variant
Chorea, Myoclonic seizure, Exaggerated startle response, Abnormal pyramidal sign, Seizure, Paraly... OMIM:272750
Congenital Neuronal Ceroid Lipofuscinosis
Myoclonic seizure, Spasticity, Seizure, Status epilepticus, Gliosis, Cerebellar atrophy, Abnormal... ORPHA:168486
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Limb hypertonia, Multifocal seizures, Myoclonic spasms, Rigidity, Focal-onset seizure, Generalize... OMIM:614498
Neurodegeneration With Brain Iron Accumulation 3
Chorea, Spasticity, Blepharospasm, Parkinsonism, Rigidity, Choreoathetosis, Ataxia, Babinski sign... OMIM:606159
Combined Oxidative Phosphorylation Deficiency 24
Spasticity, Seizure, Status epilepticus, Neuronal loss in central nervous system, Gliosis, Cerebe... OMIM:616239
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis ORPHA:1068
Frontotemporal Dementia With Motor Neuron Disease
Global brain atrophy, Fasciculations, Parkinsonism, Apraxia, Abnormality of extrapyramidal motor ... ORPHA:275872
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... ORPHA:67043
Pontocerebellar Hypoplasia, Type 4
Spasticity, Seizure, Myoclonus, Gliosis, Hypertonia OMIM:225753
Gm2 Gangliosidosis, Ab Variant
Chorea, Exaggerated startle response, Abnormal pyramidal sign, Seizure, Progressive spastic quadr... ORPHA:309246
Oculoauricular Syndrome
Posterior embryotoxon, Posterior synechiae of the anterior chamber, Iris cyst, Ocular anterior se... OMIM:612109
Adrenoleukodystrophy
Impaired vibration sensation at ankles, Seizure, Truncal ataxia, Paraparesis, Limb ataxia, Incoor... OMIM:300100
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Ocular anterior segment dysgenesis, Hypoplasia of the iris, Anterior synechiae of the anterior ch... OMIM:614195
Immunodeficiency 83, Susceptibility To Viral Infections
Hemiparesis, Seizure, Gliosis OMIM:613002
Phacoanaphylactic Uveitis
Corneal keratic precipitates, Abnormal pupil morphology, Posterior synechiae of the anterior cham... ORPHA:209959
Krabbe Disease
Seizure, Progressive spasticity, Diffuse cerebral atrophy, Hypertonia, Neurodegeneration, Decereb... OMIM:245200
Supranuclear Palsy, Progressive, 1
Retrocollis, Granulovacuolar degeneration, Gait imbalance, Falls, Akinesia, Parkinsonism, Rigidit... OMIM:601104
Spastic Paraplegia 50, Autosomal Recessive
Seizure, Limb hypertonia, Spastic tetraplegia, Cerebral palsy, Ataxia, Babinski sign, Gliosis, Ce... OMIM:612936
Microcephaly 10, Primary, Autosomal Recessive
Spasticity, Gliosis, Cerebral atrophy, Hypertonia, Cerebellar atrophy, Agenesis of corpus callosum OMIM:615095
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Febrile seizure (within the age range of 3 months to 6 years), Spasticity, Seizure, Lateral ventr... OMIM:619847
Parkinson Disease 23, Autosomal Recessive Early-Onset
Spasticity, Cerebral cortical atrophy, Abnormal pyramidal sign, Akinesia, Parkinsonism, Rigidity,... OMIM:616840
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Global brain atrophy, Amyotrophic lateral sclerosis, Neurofibrillary tangles OMIM:619132
Alzheimer Disease 4
Cerebral amyloid angiopathy, Senile plaques, Apraxia, Neurofibrillary tangles OMIM:606889
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia gliosis, Seizure, Lateral ventricle dilatation, Inability to walk, Cerebellar glios... ORPHA:79243
Machado-Joseph Disease
Spasticity, Parkinsonism, Truncal ataxia, Rigidity, Abnormality of extrapyramidal motor function,... OMIM:109150
Idiopathic Panuveitis
Posterior synechiae of the anterior chamber, Cataract, Choroidal neovascularization, Conjunctival... ORPHA:280921
Supranuclear Palsy, Progressive, 2
Retrocollis, Granulovacuolar degeneration, Gait imbalance, Falls, Akinesia, Postural tremor, Park... OMIM:609454
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Iris coloboma, Anterior synechiae of the anterior chamber, Microcornea ORPHA:3214
Developmental And Epileptic Encephalopathy 71
Seizure, Gliosis OMIM:618328
Adult-Onset Dystonia-Parkinsonism
Spasticity, Frontotemporal cerebral atrophy, Seizure, Rigidity, Eyelid apraxia, Clumsiness, Parki... ORPHA:199351
Intermediate Uveitis
Posterior synechiae of the anterior chamber, Cataract, Band keratopathy, Anterior uveitis ORPHA:279914
Hsd10 Disease, Infantile Type
Frontotemporal cerebral atrophy, Spastic diplegia, Seizure, Poor coordination, Choreoathetosis, D... ORPHA:391428
Niemann-Pick Disease, Type C1
Gait ataxia, Spasticity, Seizure, Cataplexy, Ataxia, Neuronal loss in central nervous system, Neu... OMIM:257220
Cerebrooculofacioskeletal Syndrome 1
Brain atrophy, Seizure, Diffuse cerebral atrophy, Gliosis, Cerebellar atrophy, Neurodegeneration,... OMIM:214150
Combined Oxidative Phosphorylation Defect Type 29
Global brain atrophy, Myoclonic spasms, Poor coordination, Diffuse cerebellar atrophy, Bilateral ... ORPHA:478029
Progressive Non-Fluent Aphasia
Frontotemporal cerebral atrophy, Parkinsonism, Apraxia, Abnormality of extrapyramidal motor funct... ORPHA:100070
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Seizure, Spastic tetraplegia, Gliosis, Hypertonia, Tetraplegia OMIM:608033
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Gait ataxia, Chorea, Seizure, Spastic tetraplegia, Myoclonus, Ataxia, Gliosis, Cerebral atrophy, ... OMIM:618321
Parkinson Disease 1, Autosomal Dominant
Global brain atrophy, Shuffling gait, Resting tremor, Parkinsonism, Rigidity, Myoclonus, Gait dis... OMIM:168601
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Iris coloboma, Posterior lenticonus, Chorioretinal coloboma, Microcornea ORPHA:231736
Combined Oxidative Phosphorylation Deficiency 14
Myoclonic seizure, Cerebral cortical atrophy, Basal ganglia gliosis, Seizure, Myoclonus, Diffuse ... 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
Gliosis, Neurofibrillary tangles, Parkinsonism OMIM:606688
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Spasticity, Seizure, Spastic tetraplegia, Rigidity, Focal-onset seizure, Ataxia, Difficulty walki... OMIM:618476
Leukoencephalopathy With Vanishing White Matter 1
Spasticity, Seizure, Gait disturbance, Gliosis, Unsteady gait OMIM:603896
Coats Disease
Leukocoria OMIM:300216
Progressive Supranuclear Palsy
Blepharospasm, Cerebral cortical atrophy, Falls, Rigidity, Neuronal loss in central nervous syste... ORPHA:683
Distal Monosomy 6P
Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior chamber, Cornea... ORPHA:96125
Neurodegeneration With Brain Iron Accumulation 4
Spasticity, Abnormal pyramidal sign, Parkinsonism, Abnormality of extrapyramidal motor function, ... OMIM:614298
Cerebral Amyloid Angiopathy, Itm2B-Related, 2
Spasticity, Cerebral amyloid angiopathy, Ataxia, Neurofibrillary tangles, Intention tremor OMIM:117300
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Generalized tonic seizure, Seizure, Inability to walk, Cataplexy, Upper limb spasticity, Tongue f... OMIM:617193
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Phakodonesis, Anterior synechiae of the anterior chamber, Ectopia lentis, Shallow anterior chambe... OMIM:601552
Pyruvate Dehydrogenase E2 Deficiency
Gait disturbance, Babinski sign, Difficulty walking, Hypertonia, Neurodegeneration, Broad-based g... ORPHA:79244
Pontocerebellar Hypoplasia, Type 2A
Chorea, Extrapyramidal dyskinesia, Cerebral cortical atrophy, Seizure, Gliosis, Opisthotonus OMIM:277470
Ataxia-Telangiectasia-Like Disorder 2
Cerebellar atrophy, Unsteady gait, Neurodegeneration, Ataxia OMIM:615919
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Spasticity, Pseudobulbar paralysis, Ataxia, Babinski sign, Gliosis, Corpus callosum atrophy OMIM:169500
Amyotrophic Lateral Sclerosis
Spasticity, Motor neuron atrophy, Paralysis, Amyotrophic lateral sclerosis, Neurodegeneration ORPHA:803
Alzheimer Disease 2
Neurofibrillary tangles, Parkinsonism OMIM:104310
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Gait ataxia, Seizure, Spastic tetraplegia, Spastic diplegia, Poor coordination, Gait disturbance,... OMIM:616878
Tay-Sachs Disease
Poor fine motor coordination, Global brain atrophy, Exaggerated startle response, Ankle clonus, T... ORPHA:845
Alzheimer Disease, Familial, 1
Neurofibrillary tangles, Parkinsonism OMIM:104300
Cerebral Visual Impairment
Seizure, Cerebral palsy, Clumsiness, Oculomotor apraxia, Central nervous system degeneration, Neu... ORPHA:447788
X-Linked Recessive Ocular Albinism
Abnormal pupil morphology, Iris hypopigmentation, Astigmatism, Ocular albinism ORPHA:54
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Posterior synechiae of the anterior chamber, Developmental cataract OMIM:613154
Neurodegeneration With Brain Iron Accumulation 1
Global brain atrophy, Spasticity, Blepharospasm, Abnormal pyramidal sign, Akinesia, Parkinsonism,... OMIM:234200
Familial Acute Necrotizing Encephalopathy
Spasticity, Seizure, Spastic tetraplegia, Rigidity, Gait disturbance, Gliosis, Hypertonia ORPHA:88619
Severe Early-Childhood-Onset Retinal Dystrophy
Posterior subcapsular cataract, Posterior synechiae of the anterior chamber, Chorioretinal atroph... ORPHA:364055
Multiple System Atrophy 1, Susceptibility To
Parkinsonism, Rigidity, Ataxia, Babinski sign, Tremor, Neurodegeneration, Bradykinesia OMIM:146500
Woolly Hair
Abnormal pupil morphology, Cataract ORPHA:170
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Seizure, Spastic tetraplegia, Diffuse cerebral atrophy, Head titubation, Gliosis ORPHA:3240
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Epilepsia partialis continua, Myoclonus, Paralysis, Generalized non-convulsive status epilepticus... OMIM:203700
Pelizaeus-Merzbacher Disease, Connatal Form
Inability to walk, Titubation, Ataxia, Dystonic gait, Gliosis, Difficulty walking, Lower limb spa... ORPHA:280210
Tubulointerstitial Nephritis And Uveitis Syndrome
Anterior chamber flare, Posterior synechiae of the anterior chamber, Choroidal neovascularization... ORPHA:91500
Norrie Disease
Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior chamber, Cataract, Corneal opac... OMIM:310600
Hereditary Late-Onset Parkinson Disease
Cerebral cortical atrophy, Shuffling gait, Akinesia, Resting tremor, Parkinsonism, Rigidity, Park... ORPHA:411602
Aortic Aneurysm, Familial Thoracic 6
Iris flocculi OMIM:611788
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Niemann-Pick Disease, Type C2
Spasticity, Seizure, Cataplexy, Ataxia, Neurofibrillary tangles OMIM:607625
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Spasticity, Cerebral cortical atrophy, Seizure, Postural tremor, Truncal ataxia, Myoclonus, Statu... OMIM:301072
Chediak-Higashi Syndrome
Seizure, Gait disturbance, Ataxia, Tremor, Neurodegeneration OMIM:214500
Aniridia 1
Corneal erosion, Hypoplasia of the iris, Corneal neovascularization, Anterior subcapsular catarac... OMIM:106210
Molybdenum Cofactor Deficiency, Complementation Group B
Seizure, Spastic tetraplegia, Myoclonic spasms, Diffuse cerebral atrophy, Bilateral tonic-clonic ... OMIM:252160
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology ORPHA:2151
Hec Syndrome
Abnormal pupil morphology, Developmental cataract ORPHA:2119
Late-Onset Retinal Degeneration
Abnormal anterior eye segment morphology, Abnormal suspensory ligament of lens morphology, Iris t... ORPHA:67042
Triopia
Abnormal pupil morphology, Iris coloboma, Microcornea ORPHA:3374
Axenfeld-Rieger Syndrome, Type 1
Megalocornea, Rieger anomaly, Posterior embryotoxon, Abnormally prominent line of Schwalbe, Hypop... OMIM:180500
Mitochondrial Complex I Deficiency, Nuclear Type 2
Ankle clonus, Seizure, Falls, Gliosis, Difficulty walking OMIM:618222
Congenital Muscular Dystrophy With Cerebellar Involvement
Cataract, Megalocornea, Abnormality iris morphology ORPHA:370959
Mucopolysaccharidosis, Type Ii
Neurodegeneration, Seizure OMIM:309900
Juvenile Glaucoma
Abnormal anterior chamber morphology, Abnormality iris morphology ORPHA:98977
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Focal-onset seizure, Clonic seizure, Hypertonia, Isometric tremor, Spasticity, Falls, Spastic dip... OMIM:619475
1Q41Q42 Microdeletion Syndrome
Abnormality iris morphology ORPHA:250999
Mucopolysaccharidosis, Type Vii
Neurodegeneration OMIM:253220
Hurler Syndrome
Neurodegeneration OMIM:607014
Pierson Syndrome
Microcoria, Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Uveal ectropi... 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
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.

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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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