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

IMPC Data Collections

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

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.

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 Monosomy 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
Microcephaly 7, Primary, Autosomal Recessive
Simplified gyral pattern OMIM:612703
Microcephaly 12, Primary, Autosomal Recessive
Simplified gyral pattern OMIM:616080
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia, Gray matter heterotopia OMIM:615544
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Pachygyria, Lissencephaly OMIM:614499
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria OMIM:615411
Band Heterotopia
Hydrocephalus, Gray matter heterotopia, Polymicrogyria, Subcortical band heterotopia, Agenesis of... OMIM:600348
Lissencephaly 1
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria OMIM:607432
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Gray matter heterotopia, Polymicrogyria, Lissencephaly, Abnormality of neuronal migration, Simpli... OMIM:604317
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
Abnormal neuron morphology, Simplified gyral pattern ORPHA:329228
Chudley-Mccullough Syndrome
Hydrocephalus, Dysplastic corpus callosum, Gray matter heterotopia, Polymicrogyria, Partial agene... OMIM:604213
Sub-Cortical Nodular Heterotopia
Abnormality of neuronal migration, Agenesis of corpus callosum, Subcortical heterotopia, Polymicr... ORPHA:101029
Lissencephaly, X-Linked, 1
Gray matter heterotopia, Agyria, Lissencephaly, Pachygyria, Agenesis of corpus callosum OMIM:300067
Microlissencephaly
Periventricular heterotopia, Polymicrogyria, Lissencephaly, Simplified gyral pattern, Pachygyria,... ORPHA:1083
Lissencephaly 3
Gray matter heterotopia, Polymicrogyria, Agyria, Lissencephaly, Pachygyria, Agenesis of corpus ca... OMIM:611603
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Polymicrogyria OMIM:615938
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
Hydrocephalus, Gray matter heterotopia, Dysgyria, Type II lissencephaly, Occipital encephalocele ORPHA:352682
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Agyria, Pachygyria, Gray matter heterotopia ORPHA:1084
Periventricular Nodular Heterotopia 8
Periventricular nodular heterotopia OMIM:618185
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia OMIM:608097
Cortical Malformations, Occipital
Pachygyria, Polymicrogyria OMIM:614115
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619101
Acalvaria
Abnormality of neuronal migration, Hydrocephalus, Spina bifida, Holoprosencephaly ORPHA:945
Periventricular Nodular Heterotopia 7
Periventricular nodular heterotopia, Gray matter heterotopia OMIM:617201
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Periventricular nodular heterotopia OMIM:618572
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Periventricular ribbonlike heterotopia, Lissencephaly OMIM:618677
Lissencephaly 5
Hydrocephalus, Gray matter heterotopia, Type II lissencephaly, Subcortical band heterotopia, Occi... OMIM:615191
Hemimegalencephaly
Abnormal neuron morphology, Pachygyria, Gray matter heterotopia, Polymicrogyria ORPHA:99802
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
Subependymal Nodular Heterotopia
Myelomeningocele, Gray matter heterotopia, Nasofrontal encephalocele, Polymicrogyria, Partial age... ORPHA:101030
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration ORPHA:1314
Lissencephaly 7 With Cerebellar Hypoplasia
Neonatal death, Cerebellar hypoplasia, Agyria, Lissencephaly, Death in infancy, Agenesis of corpu... OMIM:616342
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration ORPHA:2216
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Leber Congenital Amaurosis
Abnormality of neuronal migration, Encephalocele ORPHA:65
Autosomal Recessive Primary Microcephaly
Pachygyria, Gray matter heterotopia, Agenesis of corpus callosum ORPHA:2512
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Gray matter heterotopia, Polymicrogyria, Lateral ventricle dilatation... ORPHA:300573
Lissencephaly 6 With Microcephaly
Periventricular heterotopia, Pachygyria, Polymicrogyria, Partial agenesis of the corpus callosum,... OMIM:616212
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Gray matter heterotopia, Communicating hydrocephalus, Lissencephaly, Simplified gyral pattern, Co... OMIM:615219
Brain Small Vessel Disease 2
Subcortical heterotopia, Polymicrogyria OMIM:614483
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydrocephalus, Gray matter heterotopia, Anencephaly, Type II lissencephaly, Occipital encephaloce... OMIM:615287
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Gray matter heterotopia, Agenesis of corpus callosum OMIM:164180
Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Spina bifida, Agenesis of corpus callos... OMIM:207950
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Gray matter heterotopia, Patent ductus arteriosus OMIM:300049
Peroxisome Biogenesis Disorder 13A (Zellweger)
Abnormality of neuronal migration OMIM:614887
Dysplastic Cortical Hyperostosis
Abnormality of neuronal migration ORPHA:2204
Congenital Muscular Dystrophy Without Intellectual Disability
Pachygyria, Gray matter heterotopia ORPHA:370980
Lissencephaly Syndrome, Norman-Roberts Type
Abnormality of neuronal migration, Microlissencephaly, 4-layered lissencephaly, Agenesis of corpu... ORPHA:89844
Thanatophoric Dysplasia Type 2
Hydrocephalus, Holoprosencephaly, Patent ductus arteriosus, Abnormality of neuronal migration, En... ORPHA:93274
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Abnormality of neuronal migration, Pachygyria OMIM:608840
Edinburgh Malformation Syndrome
Abnormality of neuronal migration, Hydrocephalus ORPHA:1895
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Hydrocephalus, Gray matter heterotopia, Encephalocele, Polymicrogyria, Type II lissencephaly, Agy... OMIM:614643
Walker-Warburg Syndrome
Hydrocephalus, Agenesis of corpus callosum, Abnormal cortical gyration, Polymicrogyria, Lissencep... ORPHA:899
Acromelic Frontonasal Dysostosis
Periventricular nodular heterotopia, Encephalocele, Gray matter heterotopia, Agenesis of corpus c... OMIM:603671
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Gray matter heterotopia OMIM:219730
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Abnormal cortical gyration, Polymicrogyria, Lissencephaly, Abnormality of neuronal... ORPHA:2211
Tetrasomy 18P
Abnormality of neuronal migration ORPHA:3307
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration ORPHA:2772
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia OMIM:617008
Thanatophoric Dysplasia
Hydrocephalus, Gray matter heterotopia, Patent ductus arteriosus ORPHA:2655
Desmosterolosis
Hydrocephalus, Agenesis of corpus callosum, Abnormal cortical gyration, Polymicrogyria, Lissencep... ORPHA:35107
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Congenital Muscular Dystrophy With Cerebellar Involvement
Hydrocephalus, Gray matter heterotopia, Polymicrogyria, Type II lissencephaly, Occipital encephal... ORPHA:370959
Joubert Syndrome
Abnormality of neuronal migration, Hydrocephalus, Polymicrogyria, Encephalocele ORPHA:475
Joubert Syndrome 30
Gray matter heterotopia OMIM:617622
Poretti-Boltshauser Syndrome
Gray matter heterotopia OMIM:615960
Neurocutaneous Melanocytosis
Abnormality of neuronal migration, Meningocele ORPHA:2481
Li-Ghorbani-Weisz-Hubshman Syndrome
Periventricular heterotopia, Patent ductus arteriosus OMIM:618974
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia OMIM:619694
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration ORPHA:44
Galloway-Mowat Syndrome
Abnormality of neuronal migration, Pachygyria, Aqueductal stenosis ORPHA:2065
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormality of neuronal migration, Abnormal neuron morphology ORPHA:163681
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Periventricular heterotopia, Hydrocephalus, Agenesis of corpus callosum OMIM:618476
Carnitine Palmitoyltransferase Ii Deficiency
Hydrocephalus, Polymicrogyria, Renal tubular epithelial necrosis, Abnormality of neuronal migrati... ORPHA:157
Joubert Syndrome With Oculorenal Defect
Abnormality of neuronal migration, Hydrocephalus, Encephalocele ORPHA:2318
Periventricular Nodular Heterotopia
Periventricular heterotopia, Patent ductus arteriosus ORPHA:98892
Pyruvate Dehydrogenase E1-Beta Deficiency
Periventricular heterotopia, Agenesis of corpus callosum, Pachygyria ORPHA:255138
Intellectual Developmental Disorder, X-Linked 12
Abnormality of neuronal migration OMIM:300957
Neu-Laxova Syndrome
Abnormal cortical gyration, Polymicrogyria, Lissencephaly, Abnormality of neuronal migration, Pac... ORPHA:2671
Alkuraya-Kucinskas Syndrome
Hydrocephalus, Gray matter heterotopia, Lissencephaly OMIM:617822
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hydrocephalus, Polymicrogyria, Renal tubular epithelial necrosis, Abnormality of neuronal migrati... ORPHA:228308
16P13.11 Microdeletion Syndrome
Abnormality of neuronal migration, Agenesis of corpus callosum, Holoprosencephaly ORPHA:261236
Fragile X Syndrome
Periventricular heterotopia OMIM:300624
Thanatophoric Dysplasia Type 1
Hydrocephalus, Gray matter heterotopia, Patent ductus arteriosus ORPHA:1860
Thanatophoric Dysplasia, Type I
Hydrocephalus, Gray matter heterotopia OMIM:187600
Holoprosencephaly 14
Periventricular heterotopia, Gray matter heterotopia, Alobar holoprosencephaly, Hydrocephalus, Aq... OMIM:619895
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of neuronal migration ORPHA:2518
3C Syndrome
Abnormality of neuronal migration, Hydrocephalus ORPHA:7
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Periventricular heterotopia, Hydrocephalus, Colpocephaly OMIM:619833
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration ORPHA:2063
Pseudo-Torch Syndrome 2
Gray matter heterotopia, Patent ductus arteriosus, Polymicrogyria OMIM:617397
Vici Syndrome
Gray matter heterotopia, Agenesis of corpus callosum ORPHA:1493
Congenital Disorder Of Deglycosylation 2
Partial agenesis of the corpus callosum, Gray matter heterotopia, Polymicrogyria OMIM:619775
Van Maldergem Syndrome 1
Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia, Simpl... OMIM:601390
Radio-Tartaglia Syndrome
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619312
Joubert Syndrome With Hepatic Defect
Abnormality of neuronal migration, Hydrocephalus, Occipital encephalocele ORPHA:1454
9Q21.13 Microdeletion Syndrome
Gray matter heterotopia ORPHA:531151
Man1B1-Cdg
Periventricular heterotopia ORPHA:397941
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Abnormality of neuronal migration, Agenesis of corpus callosum, Polymicrogyria OMIM:608836
Orofaciodigital Syndrome Xvi
Gray matter heterotopia OMIM:617563
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gray matter heterotopia OMIM:618797
Alg11-Cdg
Gray matter heterotopia ORPHA:280071
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Periventricular heterotopia, Agenesis of corpus callosum OMIM:618929
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Gray matter heterotopia OMIM:608624
6Q Terminal Deletion Syndrome
Periventricular heterotopia, Gray matter heterotopia, Polymicrogyria, Abnormality of neuronal mig... ORPHA:75857
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Periventricular heterotopia, Patent ductus arteriosus OMIM:618870
Van Maldergem Syndrome 2
Periventricular nodular heterotopia, Gray matter heterotopia, Subcortical band heterotopia OMIM:615546
Coffin-Lowry Syndrome
Abnormality of neuronal migration ORPHA:192
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Abnormality of neuronal migration, Holoprosencephaly ORPHA:3186
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Periventricular heterotopia, Polymicrogyria, Lissencephaly, Simplified gyral pattern, Pachygyria,... ORPHA:468631
Miller-Dieker Lissencephaly Syndrome
Agyria, Pachygyria, Gray matter heterotopia, Lissencephaly OMIM:247200
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Frontal polymicrogyria, Pachygyria, Gray matter heterotopia, Patent ductus arteriosus OMIM:620024
Pagod Syndrome
Abnormality of neuronal migration, Encephalocele, Spina bifida, Meningocele ORPHA:991
Cerebrofacioarticular Syndrome
Dysplastic corpus callosum, Gray matter heterotopia, Agenesis of corpus callosum ORPHA:314679
Bohring-Opitz Syndrome
Gray matter heterotopia, Agenesis of corpus callosum OMIM:605039
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Gray matter heterotopia, Holoprosencephaly, Polymicrogyria, Colpoceph... OMIM:618820
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatic periportal necrosis, Gray matter heterotopia ORPHA:26791
Holoprosencephaly
Hydrocephalus, Holoprosencephaly, Spinal dysraphism, Abnormality of neuronal migration, Encephalo... ORPHA:2162
16Q24.3 Microdeletion Syndrome
Periventricular heterotopia, Colpocephaly ORPHA:261250
Aicardi Syndrome
Gray matter heterotopia, Polymicrogyria, Partial agenesis of the corpus callosum, Pachygyria, Spi... OMIM:304050
Opitz-Kaveggia Syndrome
Partial agenesis of the corpus callosum, Hydrocephalus, Gray matter heterotopia OMIM:305450
Neuromuscular Oculoauditory Syndrome
Periventricular heterotopia, Agenesis of corpus callosum OMIM:618733
Periventricular Nodular Heterotopia 9
Periventricular nodular heterotopia, Gray matter heterotopia, Polymicrogyria OMIM:618918
Orofaciodigital Syndrome I
Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Abnormal cortical gyration, Agenesis of... OMIM:311200
Vici Syndrome
Gray matter heterotopia, Agenesis of corpus callosum OMIM:242840
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
Arima Syndrome
Occipital meningocele, Gray matter heterotopia OMIM:243910
Orofaciodigital Syndrome Type 6
Abnormality of neuronal migration ORPHA:2754
Bilateral Perisylvian Polymicrogyria
Abnormality of neuronal migration, Bilateral perisylvian polymicrogyria, Perisylvian predominant ... ORPHA:98889
Hydrolethalus Syndrome 1
Gray matter heterotopia, Anencephaly, Severe hydrocephalus, Arrhinencephaly, Abnormal cortical gy... OMIM:236680
Koolen-De Vries Syndrome
Gray matter heterotopia, Patent ductus arteriosus OMIM:610443
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Abnormality of neuronal migration, Patent ductus arteriosus ORPHA:464311
Orofaciodigital Syndrome Xiv
Periventricular heterotopia, Holoprosencephaly, Polymicrogyria, Patent ductus arteriosus, Simplif... OMIM:615948
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Gray matter heterotopia ORPHA:453499
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
Periventricular heterotopia, Gray matter heterotopia, Patent ductus arteriosus, Hydrocephalus OMIM:612289
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Pachygyria, Gray matter heterotopia, Agenesis of corpus callosum OMIM:210710
Smith-Lemli-Opitz Syndrome
Periventricular heterotopia, Hydrocephalus, Holoprosencephaly, Partial agenesis of the corpus cal... OMIM:270400
Orofaciodigital Syndrome Type 14
Partial agenesis of the corpus callosum, Periventricular heterotopia, Patent ductus arteriosus ORPHA:434179
Genitopatellar Syndrome
Periventricular heterotopia, Colpocephaly, Agenesis of corpus callosum OMIM:606170
Proteus Syndrome
Gray matter heterotopia ORPHA:744
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Lateral ventricle dilatation, Periventricular heterotopia, Agenesis of corpus callosum, Polymicro... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Periventricular heterotopia, Polymicrogyria, Lateral ventricle dilatation, Patent ductus arterios... ORPHA:261552
Mowat-Wilson Syndrome
Periventricular heterotopia, Patent ductus arteriosus, Agenesis of corpus callosum, Polymicrogyria ORPHA:2152
Intellectual Developmental Disorder, Autosomal Dominant 22
Agenesis of corpus callosum OMIM:612337
Distal Monosomy 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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