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Gene: Zbtb18 MGI:1353609

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
zinc finger and BTB domain containing 18
Synonyms:
RP58,  Zfp238

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Zbtb18 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.

The table below shows human diseases associated to Zbtb18 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Dominant 22
Agenesis of corpus callosum OMIM:612337
Distal Deletion 1Q
ORPHA:36367

The table below shows human diseases predicted to be associated to Zbtb18 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Pachygyria, Agyria, Gray matter heterotopia, Subcortical band heterotopia, Lissencephaly OMIM:615411
Lissencephaly 1
Pachygyria, Agyria, Gray matter heterotopia, Subcortical band heterotopia, Lissencephaly OMIM:607432
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
Abnormal neuron morphology, Simplified gyral pattern ORPHA:329228
Chudley-Mccullough Syndrome
Polymicrogyria, Dysplastic corpus callosum, Hydrocephalus, Gray matter heterotopia, Partial agene... OMIM:604213
Sub-Cortical Nodular Heterotopia
Abnormality of neuronal migration, Polymicrogyria, Subcortical heterotopia, Agenesis of corpus ca... ORPHA:101029
Lissencephaly, X-Linked, 1
Agenesis of corpus callosum, Pachygyria, Agyria, Gray matter heterotopia, Lissencephaly OMIM:300067
Microlissencephaly
Polymicrogyria, Periventricular heterotopia, Pachygyria, Subcortical heterotopia, Lissencephaly, ... ORPHA:1083
Lissencephaly 3
Polymicrogyria, Periventricular laminar heterotopia, Agenesis of corpus callosum, Pachygyria, Agy... OMIM:611603
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration, Hydrocephalus OMIM:618709
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Type II lissencephaly, Dysgyria, Hydrocephalus, Gray matter heterotopia ORPHA:352682
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Pachygyria, Agyria, Gray matter heterotopia ORPHA:1084
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia OMIM:608097
Band Heterotopia
Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Hydrocephalus, Gray ma... OMIM:600348
Periventricular Nodular Heterotopia 8
Periventricular nodular heterotopia OMIM:618185
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia OMIM:615544
Acalvaria
Abnormality of neuronal migration, Holoprosencephaly, Hydrocephalus, Spina bifida ORPHA:945
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619101
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Gray matter heterotopia, Lissencep... OMIM:604317
Lissencephaly 5
Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Gray matter heterotopia, Subcortic... OMIM:615191
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration ORPHA:2216
Peroxisome Biogenesis Disorder 6A (Zellweger)
Pachygyria, Colpocephaly, Neonatal death OMIM:614870
Subependymal Nodular Heterotopia
Occipital encephalocele, Polymicrogyria, Myelomeningocele, Abnormality of neuronal migration, Men... ORPHA:101030
Hemimegalencephaly
Pachygyria, Gray matter heterotopia, Abnormal neuron morphology, Polymicrogyria ORPHA:99802
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration ORPHA:1314
Lissencephaly 7 With Cerebellar Hypoplasia
Death in infancy, Neonatal death, Agenesis of corpus callosum, Cerebellar hypoplasia, Agyria, Lis... OMIM:616342
Polymicrogyria Due To Tubb2B Mutation
Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Pachygyria, Gray matte... ORPHA:300573
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum ORPHA:2512
Leber Congenital Amaurosis
Abnormality of neuronal migration, Encephalocele ORPHA:65
Lissencephaly 6 With Microcephaly
Polymicrogyria, Periventricular heterotopia, Microlissencephaly, Pachygyria, Partial agenesis of ... OMIM:616212
Brain Small Vessel Disease 2
Subcortical heterotopia, Polymicrogyria OMIM:614483
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Partial agenesis of the corpus callosum, Periventricular heterotopia, Simplified gyral pattern OMIM:616171
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Agenesis of corpus callosum, Hydrocephalus, Spina bifida, ... OMIM:207950
Glutathionuria
Gray matter heterotopia, Agenesis of corpus callosum OMIM:231950
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Gray matter heterotopia, Patent ductus arteriosus OMIM:300049
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormality of neuronal migration ORPHA:2204
Oculocerebrocutaneous Syndrome
Gray matter heterotopia, Orbital encephalocele, Agenesis of corpus callosum OMIM:164180
Lissencephaly Syndrome, Norman-Roberts Type
Abnormality of neuronal migration, Microlissencephaly, 4-layered lissencephaly, Agenesis of corpu... ORPHA:89844
Thanatophoric Dysplasia Type 2
Encephalocele, Abnormality of neuronal migration, Hydrocephalus, Holoprosencephaly, Patent ductus... ORPHA:93274
Joubert Syndrome 30
Gray matter heterotopia, Polymicrogyria, Agenesis of corpus callosum OMIM:617622
Edinburgh Malformation Syndrome
Abnormality of neuronal migration, Hydrocephalus ORPHA:1895
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Abnormality of neuronal migration, Pachygyria OMIM:608840
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Agenesis of corpus callosum, Colpocephaly, Hydrocephalus, Gray matter heterotopia, Communicating ... OMIM:615219
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Subcortical heterotopia, Polymicrogyria, Type II lissencephaly, Encephalocele, Hydrocephalus, Pac... OMIM:614643
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Periventricular heterotopia, Simplified gyral pattern OMIM:618273
Congenital Muscular Dystrophy Without Intellectual Disability
Pachygyria, Gray matter heterotopia ORPHA:370980
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia OMIM:617008
Walker-Warburg Syndrome
Abnormal cortical gyration, Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuronal ... ORPHA:899
Tetrasomy 18P
Abnormality of neuronal migration ORPHA:3307
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Polymicrogyria, Type II lissencephaly, Agenesis of corpus callosum, Hydr... ORPHA:370959
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration ORPHA:2772
Thanatophoric Dysplasia
Gray matter heterotopia, Patent ductus arteriosus, Hydrocephalus ORPHA:2655
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Periventricular Nodular Heterotopia 7
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria OMIM:617201
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia, Hydrocephalus OMIM:219730
Neurocutaneous Melanocytosis
Abnormality of neuronal migration, Meningocele ORPHA:2481
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal cortical gyration, Polymicrogyria, Encephalocele, Exencephaly, Abnormality of neuronal m... ORPHA:2211
Desmosterolosis
Abnormal cortical gyration, Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuronal ... ORPHA:35107
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia OMIM:619694
Galloway-Mowat Syndrome
Abnormality of neuronal migration, Aqueductal stenosis, Pachygyria ORPHA:2065
Poretti-Boltshauser Syndrome
Gray matter heterotopia OMIM:615960
Joubert Syndrome
Abnormality of neuronal migration, Hydrocephalus, Encephalocele, Polymicrogyria ORPHA:475
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration ORPHA:44
Li-Ghorbani-Weisz-Hubshman Syndrome
Periventricular heterotopia, Patent ductus arteriosus OMIM:618974
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormality of neuronal migration, Abnormal neuron morphology ORPHA:163681
Joubert Syndrome With Oculorenal Defect
Abnormality of neuronal migration, Hydrocephalus, Encephalocele ORPHA:2318
Pseudo-Torch Syndrome 2
Gray matter heterotopia, Patent ductus arteriosus, Lateral ventricle dilatation, Polymicrogyria OMIM:617397
Carnitine Palmitoyltransferase Ii Deficiency
Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuronal migration, Hydrocephalus, Pa... ORPHA:157
Intellectual Developmental Disorder, X-Linked 12
Abnormality of neuronal migration OMIM:300957
Periventricular Nodular Heterotopia
Periventricular heterotopia, Patent ductus arteriosus ORPHA:98892
Pyruvate Dehydrogenase E1-Beta Deficiency
Pachygyria, Periventricular heterotopia, Agenesis of corpus callosum ORPHA:255138
Fragile X Syndrome
Periventricular heterotopia OMIM:300624
Holoprosencephaly 14
Alobar holoprosencephaly, Periventricular heterotopia, Hydrocephalus, Gray matter heterotopia, Aq... OMIM:619895
Thanatophoric Dysplasia, Type I
Gray matter heterotopia, Hydrocephalus OMIM:187600
Thanatophoric Dysplasia Type 1
Gray matter heterotopia, Patent ductus arteriosus, Hydrocephalus ORPHA:1860
16P13.11 Microdeletion Syndrome
Abnormality of neuronal migration, Holoprosencephaly, Agenesis of corpus callosum ORPHA:261236
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuronal migration, Hydrocephalus, Pa... ORPHA:228308
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of neuronal migration ORPHA:2518
Alkuraya-Kucinskas Syndrome
Gray matter heterotopia, Hydrocephalus, Lissencephaly OMIM:617822
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Colpocephaly, Periventricular heterotopia, Hydrocephalus OMIM:619833
3C Syndrome
Abnormality of neuronal migration, Hydrocephalus ORPHA:7
Neu-Laxova Syndrome
Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Spina bifida, Pach... ORPHA:2671
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Periventricular heterotopia, Lateral ventricle dilatation OMIM:614105
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration ORPHA:2063
Vici Syndrome
Gray matter heterotopia, Agenesis of corpus callosum ORPHA:1493
Congenital Disorder Of Deglycosylation 2
Gray matter heterotopia, Partial agenesis of the corpus callosum, Polymicrogyria OMIM:619775
Joubert Syndrome With Hepatic Defect
Abnormality of neuronal migration, Occipital encephalocele, Hydrocephalus ORPHA:1454
Radio-Tartaglia Syndrome
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619312
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Periventricular heterotopia, Hydrocephalus, Agenesis of corpus callosum OMIM:618476
9Q21.13 Microdeletion Syndrome
Gray matter heterotopia ORPHA:531151
Van Maldergem Syndrome 1
Periventricular nodular heterotopia, Pachygyria, Gray matter heterotopia, Subcortical band hetero... OMIM:601390
Man1B1-Cdg
Periventricular heterotopia ORPHA:397941
Peroxisome Biogenesis Disorder 13A (Zellweger)
Gray matter heterotopia, Polymicrogyria OMIM:614887
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Abnormality of neuronal migration, Polymicrogyria, Agenesis of corpus callosum OMIM:608836
Orofaciodigital Syndrome Xvi
Gray matter heterotopia OMIM:617563
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Gray matter heterotopia, Patent ductus arteriosus OMIM:620475
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gray matter heterotopia OMIM:618797
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Gray matter heterotopia OMIM:608624
Alg11-Cdg
Gray matter heterotopia ORPHA:280071
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Periventricular heterotopia, Agenesis of corpus callosum OMIM:618929
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Periventricular heterotopia, Patent ductus arteriosus OMIM:618870
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Occipital encephalocele, Type II lissencephaly, Agenesis of corpus callosum, Hydrocephalus, Gray ... OMIM:615287
6Q Terminal Deletion Syndrome
Polymicrogyria, Periventricular heterotopia, Abnormality of neuronal migration, Colpocephaly, Gra... ORPHA:75857
Coffin-Lowry Syndrome
Abnormality of neuronal migration ORPHA:192
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Polymicrogyria, Periventricular heterotopia, Agenesis of corpus callosum, Pachygyria, Lobar holop... ORPHA:468631
Cerebrofacioarticular Syndrome
Dysplastic corpus callosum, Gray matter heterotopia, Agenesis of corpus callosum ORPHA:314679
Miller-Dieker Lissencephaly Syndrome
Gray matter heterotopia, Agyria, Lissencephaly, Pachygyria OMIM:247200
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Abnormality of neuronal migration, Holoprosencephaly ORPHA:3186
Pagod Syndrome
Abnormality of neuronal migration, Meningocele, Encephalocele, Spina bifida ORPHA:991
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Pachygyria, Frontal polymicrogyria, Gray matter heterotopia, Patent ductus arteriosus OMIM:620024
Genitourinary And/Or Brain Malformation Syndrome
Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum, Colpocephaly, Gray matte... OMIM:618820
Aicardi Syndrome
Lateral ventricle dilatation, Polymicrogyria, Spina bifida, Pachygyria, Partial agenesis of the c... OMIM:304050
Bohring-Opitz Syndrome
Gray matter heterotopia, Agenesis of corpus callosum OMIM:605039
Holoprosencephaly
Spinal dysraphism, Encephalocele, Abnormality of neuronal migration, Hydrocephalus, Holoprosencep... ORPHA:2162
Multiple Acyl-Coa Dehydrogenase Deficiency
Gray matter heterotopia ORPHA:26791
Van Maldergem Syndrome 2
Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia OMIM:615546
Opitz-Kaveggia Syndrome
Gray matter heterotopia, Partial agenesis of the corpus callosum, Hydrocephalus OMIM:305450
Neuromuscular Oculoauditory Syndrome
Periventricular heterotopia, Agenesis of corpus callosum OMIM:618733
16Q24.3 Microdeletion Syndrome
Colpocephaly, Periventricular heterotopia ORPHA:261250
Orofaciodigital Syndrome I
Abnormal cortical gyration, Myelomeningocele, Agenesis of corpus callosum, Hydrocephalus, Gray ma... OMIM:311200
Galloway-Mowat Syndrome 1
Abnormality of neuronal migration, Pachygyria OMIM:251300
Peroxisome Biogenesis Disorder 1A (Zellweger)
Gray matter heterotopia, Patent ductus arteriosus, Polymicrogyria OMIM:214100
Mismatch Repair Cancer Syndrome 1
Gray matter heterotopia, Agenesis of corpus callosum OMIM:276300
Koolen-De Vries Syndrome
Gray matter heterotopia, Patent ductus arteriosus OMIM:610443
Orofaciodigital Syndrome Type 6
Abnormality of neuronal migration ORPHA:2754
Bilateral Perisylvian Polymicrogyria
Abnormality of neuronal migration, Bilateral perisylvian polymicrogyria, Perisylvian predominant ... ORPHA:98889
Periventricular Nodular Heterotopia 9
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria OMIM:618918
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Gray matter heterotopia, Patent ductus arteriosus OMIM:620654
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Abnormal cortical gyration, Lateral ventricle dilatation, Polymicrogyria, Pachygyria, Agenesis of... OMIM:210710
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Abnormality of neuronal migration, Patent ductus arteriosus ORPHA:464311
Acromelic Frontonasal Dysostosis
Gray matter heterotopia, Periventricular nodular heterotopia, Encephalocele, Agenesis of corpus c... OMIM:603671
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Polymicrogyria, Periventricular heterotopia, Partial agenesis of the cor... OMIM:615948
Arima Syndrome
Gray matter heterotopia, Occipital meningocele OMIM:243910
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Gray matter heterotopia ORPHA:453499
Hydrolethalus Syndrome 1
Abnormal cortical gyration, Agenesis of corpus callosum, Gray matter heterotopia, Anencephaly, Se... OMIM:236680
Vici Syndrome
Gray matter heterotopia, Agenesis of corpus callosum OMIM:242840
Nijmegen Breakage Syndrome
Abnormality of neuronal migration ORPHA:647
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Gray matter heterotopia, Agenesis of corpus callosum ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Gray matter heterotopia, Agenesis of corpus callosum ORPHA:352665
Fontaine Progeroid Syndrome
Gray matter heterotopia, Patent ductus arteriosus, Periventricular heterotopia, Hydrocephalus OMIM:612289
Smith-Lemli-Opitz Syndrome
Periventricular heterotopia, Colpocephaly, Hydrocephalus, Partial agenesis of the corpus callosum... OMIM:270400
Orofaciodigital Syndrome Type 14
Partial agenesis of the corpus callosum, Periventricular heterotopia, Patent ductus arteriosus ORPHA:434179
Genitopatellar Syndrome
Pachygyria, Colpocephaly, Periventricular heterotopia, Agenesis of corpus callosum OMIM:606170
Proteus Syndrome
Gray matter heterotopia ORPHA:744
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Polymicrogyria, Periventricular heterotopia, Lateral ventricle dilatation, Agenesis of corpus cal... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Lateral ventricle dilatation, Polymicrogyria, Periventricular heterotopia, Agenesis of corpus cal... ORPHA:261552
Mowat-Wilson Syndrome
Polymicrogyria, Periventricular heterotopia, Patent ductus arteriosus, Agenesis of corpus callosum ORPHA:2152
Intellectual Developmental Disorder, Autosomal Dominant 22
Agenesis of corpus callosum OMIM:612337
Distal Deletion 1Q
ORPHA:36367

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 Zbtb18

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 Zbtb18.

No publications found that use IMPC mice or data for Zbtb18.

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MGI Allele Allele Type Produced
Zbtb18tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Zbtb18tm442723(Ifitm2_intron_L1L2_GT1_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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