Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
ADP ribosylation factor guanine nucleotide exchange factor 2
Synonyms:
E230011G24Rik,  BIG2

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 Arfgef2 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 Arfgef2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia OMIM:608097
Periventricular Nodular Heterotopia
Periventricular heterotopia ORPHA:98892

The table below shows human diseases predicted to be associated to Arfgef2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Agyria, Gray matter heterotopia, Pachygyria, Subcortical band heterotopia, Lissencephaly OMIM:615411
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Type II lissencephaly, Neural tube defect OMIM:615041
Lissencephaly 1
Agyria, Gray matter heterotopia, Pachygyria, Subcortical band heterotopia, Lissencephaly OMIM:607432
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hydrocephalus, Polymicrogyria, Gray matter heterotopia, Partial agene... OMIM:604213
Sub-Cortical Nodular Heterotopia
Polymicrogyria, Abnormality of neuronal migration, Subcortical heterotopia, Agenesis of corpus ca... ORPHA:101029
Lissencephaly, X-Linked, 1
Agyria, Gray matter heterotopia, Agenesis of corpus callosum, Pachygyria, Lissencephaly OMIM:300067
Lissencephaly 3
Polymicrogyria, Agyria, Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum, Lissenc... OMIM:611603
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Microlissencephaly
Polymicrogyria, Subcortical heterotopia, Simplified gyral pattern, Pachygyria, Lissencephaly, Per... ORPHA:1083
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Agyria, Gray matter heterotopia, Pachygyria ORPHA:1084
Band Heterotopia
Hydrocephalus, Polymicrogyria, Gray matter heterotopia, Agenesis of corpus callosum, Lateral vent... OMIM:600348
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus, Dysgyria, Type II lissencephaly, Gray matter heterotopia ORPHA:352682
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia OMIM:608097
Subependymal Nodular Heterotopia
Occipital encephalocele, Nasofrontal encephalocele, Meningocele, Polymicrogyria, Gray matter hete... ORPHA:101030
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Acalvaria
Hydrocephalus, Omphalocele, Spina bifida, Abnormality of neuronal migration, Holoprosencephaly ORPHA:945
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Abnormality of neuronal migration OMIM:618709
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, Gray matter heterotopia, Abnormality of neuronal migration, Simplified gyral patt... OMIM:604317
Lissencephaly 5
Occipital encephalocele, Hydrocephalus, Type II lissencephaly, Gray matter heterotopia, Subcortic... OMIM:615191
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration ORPHA:2216
Polymicrogyria Due To Tubb2B Mutation
Polymicrogyria, Gray matter heterotopia, Perisylvian polymicrogyria, Pachygyria, Lateral ventricl... ORPHA:300573
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
Lissencephaly 6 With Microcephaly
Polymicrogyria, Microlissencephaly, Simplified gyral pattern, Pachygyria, Lissencephaly, Perivent... OMIM:616212
Joubert Syndrome 15
Exencephaly OMIM:614464
Hemimegalencephaly
Polymicrogyria, Abnormal neuron morphology, Gray matter heterotopia, Pachygyria ORPHA:99802
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Autosomal Recessive Primary Microcephaly
Agenesis of corpus callosum, Gray matter heterotopia, Pachygyria ORPHA:2512
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration ORPHA:1314
Chiari Malformation Type Ii
Cervical myelopathy, Hydrocephalus, Gray matter heterotopia, Myelomeningocele, Spina bifida, Agen... OMIM:207950
Leber Congenital Amaurosis
Abnormality of neuronal migration, Encephalocele ORPHA:65
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Craniorachischisis
Sirenomelia, Anencephaly, Myelomeningocele, Omphalocele, Spinal dysraphism, Cervical spina bifida ORPHA:63260
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal cortical gyration, Encephalocele, Polymicrogyria, Abnormality of neuronal migration, Pac... ORPHA:2211
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Periventricular heterotopia, Simplified gyral pattern, Partial agenesis of the corpus callosum OMIM:616171
Oculocerebrocutaneous Syndrome
Agenesis of corpus callosum, Gray matter heterotopia, Orbital encephalocele OMIM:164180
Glutathionuria
Gray matter heterotopia, Agenesis of corpus callosum OMIM:231950
Brain Small Vessel Disease 2
Polymicrogyria, Subcortical heterotopia OMIM:614483
Lissencephaly Syndrome, Norman-Roberts Type
Microlissencephaly, Abnormality of neuronal migration, 4-layered lissencephaly, Agenesis of corpu... ORPHA:89844
Joubert Syndrome 30
Polymicrogyria, Gray matter heterotopia, Agenesis of corpus callosum OMIM:617622
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Hydrocephalus, Polymicrogyria, Type II lissencephaly, Agyria, Gray matter heteroto... OMIM:614643
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormality of neuronal migration ORPHA:2204
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Abnormality of neuronal migration, Pachygyria OMIM:608840
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Gray matter heterotopia OMIM:300049
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Hydrocephalus, Gray matter heterotopia, Communicating hydrocephalus, Colpocephaly, Simplified gyr... OMIM:615219
Thanatophoric Dysplasia Type 2
Hydrocephalus, Abnormality of neuronal migration, Holoprosencephaly, Encephalocele ORPHA:93274
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Hydrocephalus, Polymicrogyria, Type II lissencephaly, Gray matter hetero... ORPHA:370959
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Periventricular heterotopia, Simplified gyral pattern OMIM:618273
Walker-Warburg Syndrome
Abnormal cortical gyration, Hydrocephalus, Polymicrogyria, Abnormality of neuronal migration, Pac... ORPHA:899
Congenital Muscular Dystrophy Without Intellectual Disability
Gray matter heterotopia, Pachygyria ORPHA:370980
Edinburgh Malformation Syndrome
Hydrocephalus, Abnormality of neuronal migration ORPHA:1895
Periventricular Nodular Heterotopia 7
Polymicrogyria, Periventricular nodular heterotopia, Gray matter heterotopia OMIM:617201
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration ORPHA:2772
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia OMIM:617008
Tetrasomy 18P
Abnormality of neuronal migration ORPHA:3307
Galloway-Mowat Syndrome
Hiatus hernia, Aqueductal stenosis, Abnormality of neuronal migration, Pachygyria ORPHA:2065
Desmosterolosis
Abnormal cortical gyration, Hydrocephalus, Polymicrogyria, Abnormality of neuronal migration, Pac... ORPHA:35107
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia OMIM:619694
Neurocutaneous Melanocytosis
Abnormality of neuronal migration, Meningocele ORPHA:2481
Joubert Syndrome
Hydrocephalus, Polymicrogyria, Abnormality of neuronal migration, Encephalocele ORPHA:475
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration ORPHA:44
Pyruvate Dehydrogenase E1-Beta Deficiency
Agenesis of corpus callosum, Periventricular heterotopia, Pachygyria ORPHA:255138
Poretti-Boltshauser Syndrome
Gray matter heterotopia OMIM:615960
Carnitine Palmitoyltransferase Ii Deficiency
Hydrocephalus, Polymicrogyria, Abnormality of neuronal migration, Agenesis of corpus callosum, Pa... ORPHA:157
Thanatophoric Dysplasia
Hydrocephalus, Gray matter heterotopia ORPHA:2655
Intellectual Developmental Disorder, X-Linked 12
Abnormality of neuronal migration OMIM:300957
Pseudo-Torch Syndrome 2
Polymicrogyria, Gray matter heterotopia, Lateral ventricle dilatation OMIM:617397
Li-Ghorbani-Weisz-Hubshman Syndrome
Periventricular heterotopia OMIM:618974
Joubert Syndrome With Oculorenal Defect
Hydrocephalus, Abnormality of neuronal migration, Encephalocele ORPHA:2318
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration, Inguinal hernia ORPHA:2063
Neu-Laxova Syndrome
Abnormal cortical gyration, Polymicrogyria, Spina bifida, Abnormality of neuronal migration, Pach... ORPHA:2671
3C Syndrome
Hydrocephalus, Abnormality of neuronal migration, Inguinal hernia ORPHA:7
Aprosencephaly Syndrome
Anencephaly, Aprosencephaly OMIM:207770
Fragile X Syndrome
Periventricular heterotopia OMIM:300624
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Periventricular heterotopia, Lateral ventricle dilatation OMIM:614105
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hydrocephalus, Polymicrogyria, Abnormality of neuronal migration, Agenesis of corpus callosum, Pa... ORPHA:228308
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Hydrocephalus, Periventricular heterotopia, Colpocephaly OMIM:619833
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormality of neuronal migration, Abnormal neuron morphology ORPHA:163681
Joubert Syndrome With Hepatic Defect
Hydrocephalus, Occipital encephalocele, Abnormality of neuronal migration, Inguinal hernia ORPHA:1454
Orofaciodigital Syndrome Xvi
Gray matter heterotopia, Inguinal hernia OMIM:617563
16P13.11 Microdeletion Syndrome
Abnormality of neuronal migration, Holoprosencephaly, Agenesis of corpus callosum ORPHA:261236
Periventricular Nodular Heterotopia
Periventricular heterotopia ORPHA:98892
Vici Syndrome
Gray matter heterotopia, Agenesis of corpus callosum ORPHA:1493
Holoprosencephaly 14
Aqueductal stenosis, Alobar holoprosencephaly, Hydrocephalus, Gray matter heterotopia, Holoprosen... OMIM:619895
Congenital Disorder Of Deglycosylation 2
Polymicrogyria, Gray matter heterotopia, Partial agenesis of the corpus callosum OMIM:619775
Radio-Tartaglia Syndrome
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619312
Pagod Syndrome
Encephalocele, Meningocele, Omphalocele, Spina bifida, Abnormality of neuronal migration ORPHA:991
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of neuronal migration ORPHA:2518
Miller-Dieker Lissencephaly Syndrome
Inguinal hernia, Agyria, Gray matter heterotopia, Omphalocele, Pachygyria, Lissencephaly OMIM:247200
Alkuraya-Kucinskas Syndrome
Hydrocephalus, Lissencephaly, Gray matter heterotopia OMIM:617822
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Gray matter heterotopia OMIM:219730
Van Maldergem Syndrome 1
Gray matter heterotopia, Simplified gyral pattern, Pachygyria, Subcortical band heterotopia, Peri... OMIM:601390
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Polymicrogyria, Abnormality of neuronal migration, Agenesis of corpus callosum OMIM:608836
Thanatophoric Dysplasia, Type I
Hydrocephalus, Gray matter heterotopia OMIM:187600
Aicardi Syndrome
Polymicrogyria, Gray matter heterotopia, Spina bifida, Pachygyria, Lateral ventricle dilatation, ... OMIM:304050
Thanatophoric Dysplasia Type 1
Hydrocephalus, Gray matter heterotopia ORPHA:1860
Man1B1-Cdg
Periventricular heterotopia ORPHA:397941
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Occipital encephalocele, Anencephaly, Hydrocephalus, Type II lissencephaly, Gray matter heterotop... OMIM:615287
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hydrocephalus, Periventricular heterotopia, Agenesis of corpus callosum OMIM:618476
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Gray matter heterotopia, Umbilical hernia OMIM:620475
Peroxisome Biogenesis Disorder 13A (Zellweger)
Polymicrogyria, Gray matter heterotopia OMIM:614887
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Polymicrogyria, Gray matter heterotopia, Omphalocele, Colpocephaly, H... OMIM:618820
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Periventricular heterotopia, Agenesis of corpus callosum OMIM:618929
6Q Terminal Deletion Syndrome
Polymicrogyria, Gray matter heterotopia, Abnormality of neuronal migration, Colpocephaly, Periven... ORPHA:75857
Holoprosencephaly
Encephalocele, Hydrocephalus, Branchial anomaly, Omphalocele, Abnormality of neuronal migration, ... ORPHA:2162
9Q21.13 Microdeletion Syndrome
Gray matter heterotopia ORPHA:531151
Van Maldergem Syndrome 2
Subcortical band heterotopia, Periventricular nodular heterotopia, Gray matter heterotopia, Ingui... OMIM:615546
Coffin-Lowry Syndrome
Abnormality of neuronal migration ORPHA:192
Sacral Defect With Anterior Meningocele
Myeloschisis, Meningocele, Hydrocephalus, Dermal sinus tract, Myelomeningocele OMIM:600145
Cerebrofacioarticular Syndrome
Dysplastic corpus callosum, Gray matter heterotopia, Agenesis of corpus callosum ORPHA:314679
Opitz-Kaveggia Syndrome
Inguinal hernia, Hydrocephalus, Gray matter heterotopia, Umbilical hernia, Partial agenesis of th... OMIM:305450
Galloway-Mowat Syndrome 1
Hiatus hernia, Abnormality of neuronal migration, Pachygyria OMIM:251300
Alg11-Cdg
Gray matter heterotopia ORPHA:280071
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gray matter heterotopia OMIM:618797
Bohring-Opitz Syndrome
Gray matter heterotopia, Agenesis of corpus callosum OMIM:605039
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Polymicrogyria, Lobar holoprosencephaly, Simplified gyral pattern, Pachygyria, Agenesis of corpus... ORPHA:468631
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Periventricular heterotopia OMIM:618870
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Gray matter heterotopia OMIM:608624
Orofaciodigital Syndrome I
Abnormal cortical gyration, Hydrocephalus, Gray matter heterotopia, Myelomeningocele, Agenesis of... OMIM:311200
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Gray matter heterotopia, Inguinal hernia, Umbilical hernia OMIM:620654
Multiple Acyl-Coa Dehydrogenase Deficiency
Gray matter heterotopia ORPHA:26791
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Abnormality of neuronal migration, Holoprosencephaly, Omphalocele ORPHA:3186
16Q24.3 Microdeletion Syndrome
Periventricular heterotopia, Colpocephaly ORPHA:261250
Neuromuscular Oculoauditory Syndrome
Periventricular heterotopia, Agenesis of corpus callosum OMIM:618733
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Frontal polymicrogyria, Gray matter heterotopia, Pachygyria OMIM:620024
Hydrolethalus Syndrome 1
Abnormal cortical gyration, Anencephaly, Gray matter heterotopia, Omphalocele, Agenesis of corpus... OMIM:236680
Peroxisome Biogenesis Disorder 1A (Zellweger)
Polymicrogyria, Gray matter heterotopia OMIM:214100
Mismatch Repair Cancer Syndrome 1
Gray matter heterotopia, Agenesis of corpus callosum OMIM:276300
Acromelic Frontonasal Dysostosis
Agenesis of corpus callosum, Periventricular nodular heterotopia, Gray matter heterotopia, Enceph... OMIM:603671
Orofaciodigital Syndrome Type 6
Abnormality of neuronal migration ORPHA:2754
Koolen-De Vries Syndrome
Gray matter heterotopia OMIM:610443
Bilateral Perisylvian Polymicrogyria
Abnormality of neuronal migration, Perisylvian predominant thick cortex pachygyria, Bilateral per... ORPHA:98889
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Abnormal cortical gyration, Hydrocephalus, Polymicrogyria, Microlissencephaly, Gray matter hetero... OMIM:210710
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Branchial anomaly, Gray matter heterotopia ORPHA:453499
Periventricular Nodular Heterotopia 9
Polymicrogyria, Periventricular nodular heterotopia, Gray matter heterotopia OMIM:618918
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Abnormality of neuronal migration ORPHA:464311
Vici Syndrome
Gray matter heterotopia, Agenesis of corpus callosum OMIM:242840
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Branchial anomaly, Gray matter heterotopia, Agenesis of corpus callosum ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Branchial anomaly, Gray matter heterotopia, Agenesis of corpus callosum ORPHA:352665
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Polymicrogyria, Holoprosencephaly, Simplified gyral pattern, Periventric... OMIM:615948
Arima Syndrome
Occipital meningocele, Gray matter heterotopia OMIM:243910
Nijmegen Breakage Syndrome
Abnormality of neuronal migration ORPHA:647
Fontaine Progeroid Syndrome
Hydrocephalus, Periventricular heterotopia, Gray matter heterotopia, Umbilical hernia OMIM:612289
Smith-Lemli-Opitz Syndrome
Hydrocephalus, Colpocephaly, Holoprosencephaly, Periventricular heterotopia, Partial agenesis of ... OMIM:270400
Genitopatellar Syndrome
Agenesis of corpus callosum, Periventricular heterotopia, Colpocephaly, Pachygyria OMIM:606170
Orofaciodigital Syndrome Type 14
Periventricular heterotopia, Partial agenesis of the corpus callosum ORPHA:434179
Proteus Syndrome
Sirenomelia, Gray matter heterotopia ORPHA:744
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Polymicrogyria, Agenesis of corpus callosum, Periventricular heterotopia, Lateral ventricle dilat... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Polymicrogyria, Agenesis of corpus callosum, Periventricular heterotopia, Lateral ventricle dilat... ORPHA:261552
Mowat-Wilson Syndrome
Polymicrogyria, Periventricular heterotopia, Agenesis of corpus callosum ORPHA:2152

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 Arfgef2

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 Arfgef2.

No publications found that use IMPC mice or data for Arfgef2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Arfgef2tm269851(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter