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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
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria OMIM:615411
Lissencephaly 1
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria OMIM:607432
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
Simplified gyral pattern, Abnormal neuron morphology ORPHA:329228
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Gray matter h... OMIM:604213
Sub-Cortical Nodular Heterotopia
Polymicrogyria, Subcortical heterotopia, Agenesis of corpus callosum, Abnormality of neuronal mig... ORPHA:101029
Lissencephaly, X-Linked, 1
Gray matter heterotopia, Lissencephaly, Pachygyria, Agenesis of corpus callosum, Agyria OMIM:300067
Microlissencephaly
Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa... ORPHA:1083
Lissencephaly 3
Periventricular laminar heterotopia, Pachygyria, Gray matter heterotopia, Lissencephaly, Polymicr... OMIM:611603
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Abnormality of neuronal migration OMIM:618709
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus, Gray matter heterotopia, Dysgyria, Type II lissencephaly ORPHA:352682
Band Heterotopia
Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Lateral ventricle dilatatio... OMIM:600348
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Gray matter heterotopia, Pachygyria, Agyria ORPHA:1084
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia OMIM:608097
Periventricular Nodular Heterotopia 8
Periventricular nodular heterotopia OMIM:618185
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619101
Acalvaria
Holoprosencephaly, Hydrocephalus, Abnormality of neuronal migration, Spina bifida ORPHA:945
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia OMIM:615544
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Pachygyria, Simplified gyral pattern, Abnormality of neuronal migration, Gray matter heterotopia,... OMIM:604317
Lissencephaly 5
Occipital encephalocele, Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Ty... OMIM:615191
Hemimegalencephaly
Gray matter heterotopia, Pachygyria, Polymicrogyria, Abnormal neuron morphology ORPHA:99802
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Colpocephaly, Pachygyria OMIM:614870
Subependymal Nodular Heterotopia
Occipital encephalocele, Partial agenesis of the corpus callosum, Myelomeningocele, Meningocele, ... ORPHA:101030
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration ORPHA:1314
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Gray matter heterotopia, Lateral ventricle dilatation, Lissencephaly,... ORPHA:300573
Lissencephaly 7 With Cerebellar Hypoplasia
Death in infancy, Lissencephaly, Cerebellar hypoplasia, Neonatal death, Agenesis of corpus callos... OMIM:616342
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration ORPHA:2216
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
Encephalocele, Abnormality of neuronal migration ORPHA:65
Lissencephaly 6 With Microcephaly
Periventricular heterotopia, Pachygyria, Partial agenesis of the corpus callosum, Simplified gyra... OMIM:616212
Brain Small Vessel Disease 2
Subcortical heterotopia, Polymicrogyria OMIM:614483
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Partial agenesis of the corpus callosum, Simplified gyral pattern, Periventricular heterotopia OMIM:616171
Glutathionuria
Gray matter heterotopia, Agenesis of corpus callosum OMIM:231950
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Periventricular nodular heterotopia OMIM:620065
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Cervical myelopathy, Agen... OMIM:207950
Periventricular Nodular Heterotopia 1
Gray matter heterotopia, Patent ductus arteriosus, Abnormality of neuronal migration 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
Congenital Muscular Dystrophy Without Intellectual Disability
Gray matter heterotopia, Pachygyria ORPHA:370980
Lissencephaly Syndrome, Norman-Roberts Type
4-layered lissencephaly, Agenesis of corpus callosum, Abnormality of neuronal migration, Microlis... ORPHA:89844
Thanatophoric Dysplasia Type 2
Encephalocele, Patent ductus arteriosus, Hydrocephalus, Abnormality of neuronal migration, Holopr... ORPHA:93274
Edinburgh Malformation Syndrome
Hydrocephalus, Abnormality of neuronal migration ORPHA:1895
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Pachygyria, Abnormality of neuronal migration OMIM:608840
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Subcortical heterotopia, Agyria, Partial agenesis of the corpus callosum, Hydrocep... OMIM:614643
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Simplified gyral pattern, Periventricular heterotopia OMIM:618273
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Hydrocephalus, Simplified gyral pattern, Gray matter heterotopia, Co... OMIM:615219
Walker-Warburg Syndrome
Abnormal cortical gyration, Pachygyria, Hydrocephalus, Abnormality of neuronal migration, Macrogy... ORPHA:899
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia OMIM:617008
Tetrasomy 18P
Abnormality of neuronal migration ORPHA:3307
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogy... ORPHA:2211
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration ORPHA:2772
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Hydrocephalus, Gray matter heterotopia, Polymicrogyria, Agenesis of corp... ORPHA:370959
Desmosterolosis
Abnormal cortical gyration, Pachygyria, Patent ductus arteriosus, Hydrocephalus, Abnormality of n... ORPHA:35107
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Thanatophoric Dysplasia
Gray matter heterotopia, Patent ductus arteriosus, Hydrocephalus ORPHA:2655
Neurocutaneous Melanocytosis
Meningocele, Abnormality of neuronal migration ORPHA:2481
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia, Hydrocephalus OMIM:219730
Periventricular Nodular Heterotopia 7
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria OMIM:617201
Poretti-Boltshauser Syndrome
Gray matter heterotopia OMIM:615960
Joubert Syndrome
Encephalocele, Hydrocephalus, Polymicrogyria, Abnormality of neuronal migration ORPHA:475
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia OMIM:619694
Joubert Syndrome 30
Gray matter heterotopia OMIM:617622
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration ORPHA:44
Galloway-Mowat Syndrome
Aqueductal stenosis, Pachygyria, Abnormality of neuronal migration ORPHA:2065
Li-Ghorbani-Weisz-Hubshman Syndrome
Patent ductus arteriosus, Periventricular heterotopia OMIM:618974
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormality of neuronal migration, Abnormal neuron morphology ORPHA:163681
Carnitine Palmitoyltransferase Ii Deficiency
Pachygyria, Hydrocephalus, Abnormality of neuronal migration, Renal tubular epithelial necrosis, ... ORPHA:157
Joubert Syndrome With Oculorenal Defect
Encephalocele, Hydrocephalus, Abnormality of neuronal migration ORPHA:2318
Pseudo-Torch Syndrome 2
Gray matter heterotopia, Patent ductus arteriosus, Polymicrogyria, Lateral ventricle dilatation OMIM:617397
Periventricular Nodular Heterotopia
Patent ductus arteriosus, Periventricular heterotopia ORPHA:98892
Intellectual Developmental Disorder, X-Linked 12
Abnormality of neuronal migration OMIM:300957
Pyruvate Dehydrogenase E1-Beta Deficiency
Pachygyria, Agenesis of corpus callosum, Periventricular heterotopia ORPHA:255138
Fragile X Syndrome
Periventricular heterotopia OMIM:300624
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Pachygyria, Hydrocephalus, Abnormality of neuronal migration, Renal tubular epithelial necrosis, ... ORPHA:228308
Holoprosencephaly 14
Alobar holoprosencephaly, Aqueductal stenosis, Periventricular heterotopia, Partial agenesis of t... OMIM:619895
Neu-Laxova Syndrome
Abnormal cortical gyration, Spina bifida, Pachygyria, Abnormality of neuronal migration, Macrogyr... ORPHA:2671
Thanatophoric Dysplasia Type 1
Gray matter heterotopia, Patent ductus arteriosus, Hydrocephalus ORPHA:1860
16P13.11 Microdeletion Syndrome
Holoprosencephaly, Agenesis of corpus callosum, Abnormality of neuronal migration ORPHA:261236
Thanatophoric Dysplasia, Type I
Gray matter heterotopia, Hydrocephalus OMIM:187600
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of neuronal migration ORPHA:2518
Alkuraya-Kucinskas Syndrome
Gray matter heterotopia, Hydrocephalus, Lissencephaly OMIM:617822
3C Syndrome
Hydrocephalus, Abnormality of neuronal migration ORPHA:7
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Lateral ventricle dilatation, Periventricular heterotopia OMIM:614105
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Hydrocephalus, Colpocephaly, Periventricular heterotopia OMIM:619833
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
Occipital encephalocele, Hydrocephalus, Abnormality of neuronal migration ORPHA:1454
Radio-Tartaglia Syndrome
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619312
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hydrocephalus, Agenesis of corpus callosum, Periventricular heterotopia OMIM:618476
9Q21.13 Microdeletion Syndrome
Gray matter heterotopia ORPHA:531151
Van Maldergem Syndrome 1
Subcortical band heterotopia, Simplified gyral pattern, Gray matter heterotopia, Periventricular ... 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
Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuronal migration OMIM:608836
Orofaciodigital Syndrome Xvi
Gray matter heterotopia OMIM:617563
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Hydrocephalus, Anencephaly, Gray matter het... OMIM:615287
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
Agenesis of corpus callosum, Periventricular heterotopia OMIM:618929
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Gray matter heterotopia OMIM:608624
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Patent ductus arteriosus, Periventricular heterotopia OMIM:618870
6Q Terminal Deletion Syndrome
Periventricular heterotopia, Abnormality of neuronal migration, Gray matter heterotopia, Colpocep... ORPHA:75857
Acromelic Frontonasal Dysostosis
Encephalocele, Gray matter heterotopia, Periventricular nodular heterotopia, Agenesis of corpus c... OMIM:603671
Coffin-Lowry Syndrome
Abnormality of neuronal migration ORPHA:192
Cerebrofacioarticular Syndrome
Gray matter heterotopia, Dysplastic corpus callosum, Agenesis of corpus callosum ORPHA:314679
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Periventricular heterotopia, Pachygyria, Simplified gyral pattern, Lobar holoprosencephaly, Lisse... ORPHA:468631
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Holoprosencephaly, Abnormality of neuronal migration ORPHA:3186
Pagod Syndrome
Encephalocele, Meningocele, Abnormality of neuronal migration, Spina bifida ORPHA:991
Miller-Dieker Lissencephaly Syndrome
Gray matter heterotopia, Pachygyria, Lissencephaly, Agyria OMIM:247200
Multiple Acyl-Coa Dehydrogenase Deficiency
Gray matter heterotopia, Hepatic periportal necrosis ORPHA:26791
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Gray matter heterotopia, Frontal polymicrogyria, Patent ductus arteriosus, Pachygyria OMIM:620024
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Gray matter heterotopia, Colpocephaly, Holoprosencephaly, Polymicrogy... OMIM:618820
Aicardi Syndrome
Spina bifida, Partial agenesis of the corpus callosum, Gray matter heterotopia, Lateral ventricle... OMIM:304050
Bohring-Opitz Syndrome
Gray matter heterotopia, Agenesis of corpus callosum OMIM:605039
Holoprosencephaly
Encephalocele, Hydrocephalus, Abnormality of neuronal migration, Spinal dysraphism, Holoprosencep... ORPHA:2162
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
16Q24.3 Microdeletion Syndrome
Colpocephaly, Periventricular heterotopia ORPHA:261250
Neuromuscular Oculoauditory Syndrome
Agenesis of corpus callosum, Periventricular heterotopia OMIM:618733
Orofaciodigital Syndrome I
Abnormal cortical gyration, Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Agenesis of... OMIM:311200
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
Orofaciodigital Syndrome Type 6
Abnormality of neuronal migration ORPHA:2754
Bilateral Perisylvian Polymicrogyria
Perisylvian predominant thick cortex pachygyria, Abnormality of neuronal migration, Bilateral per... ORPHA:98889
Koolen-De Vries Syndrome
Gray matter heterotopia, Patent ductus arteriosus OMIM:610443
Periventricular Nodular Heterotopia 9
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria OMIM:618918
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Abnormal cortical gyration, Partial agenesis of the corpus callosum, Hydrocephalus, Microlissence... OMIM:210710
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Patent ductus arteriosus, Abnormality of neuronal migration ORPHA:464311
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Periventricular heterotopia, Patent ductus arteriosus, Partial agenesis ... OMIM:615948
Arima Syndrome
Gray matter heterotopia, Occipital meningocele OMIM:243910
Hydrolethalus Syndrome 1
Abnormal cortical gyration, Anencephaly, Gray matter heterotopia, Severe hydrocephalus, Agenesis ... OMIM:236680
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Gray matter heterotopia ORPHA:453499
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, Hydrocephalus, Periventricular heterotopia OMIM:612289
Smith-Lemli-Opitz Syndrome
Periventricular heterotopia, Patent ductus arteriosus, Partial agenesis of the corpus callosum, H... OMIM:270400
Orofaciodigital Syndrome Type 14
Patent ductus arteriosus, Partial agenesis of the corpus callosum, Periventricular heterotopia ORPHA:434179
Genitopatellar Syndrome
Colpocephaly, Pachygyria, Agenesis of corpus callosum, Periventricular heterotopia OMIM:606170
Proteus Syndrome
Gray matter heterotopia ORPHA:744
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Periventricular hetero... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Periventricular heterotopia, Patent ductus arteriosus, Lateral ventricle dilatation, Polymicrogyr... ORPHA:261552
Mowat-Wilson Syndrome
Patent ductus arteriosus, Polymicrogyria, Agenesis of corpus callosum, Periventricular heterotopia 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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