Gene Summary

Name:
ADP-ribosylation factor guanine nucleotide-exchange factor 1(brefeldin A-inhibited)
Synonyms:
D130059B05Rik,  BIG1,  P200,  D730028O18Rik,  ARFGEP1

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased locomotor activity Arfgef1em1(IMPC)Hmgu HET   Early adult 2.67×10-06
thick ventricular wall Arfgef1em1(IMPC)Hmgu HET Early adult 6.69×10-06
preweaning lethality, complete penetrance Arfgef1em1(IMPC)Hmgu HOM   Early adult 0.000100

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Viewing: all phenotypes

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 Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Arfgef1 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 Arfgef1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
OMIM:619964

The table below shows human diseases predicted to be associated to Arfgef1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Chudley-Mccullough Syndrome
Hydrocephalus, Dysplastic corpus callosum, Gray matter heterotopia, Cerebellar hypoplasia, Hypopl... OMIM:604213
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Hydrocephalus, Abnormality of the anterior commissure, Agenesis of corpus... OMIM:617542
Lissencephaly 4
Cerebellar hypoplasia, Lissencephaly, Primary microcephaly, Simplified gyral pattern, Colpocephal... OMIM:614019
Band Heterotopia
Hydrocephalus, Gray matter heterotopia, Polymicrogyria, Ventriculomegaly, Subcortical band hetero... OMIM:600348
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Microcephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Unilateral polymicrogyria... OMIM:610031
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Abnormal cerebral white matter morphology, Dysplastic corpus callosum, Ventriculomegaly, Mild mal... ORPHA:500166
Lissencephaly 3
Gray matter heterotopia, Microcephaly, Polymicrogyria, Hypoplasia of the corpus callosum, Agyria,... OMIM:611603
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Cerebellar hypoplasia, Polymicrogyria, Primary microcephaly, Ventriculomegaly, Agenesis of corpus... ORPHA:171703
Sub-Cortical Nodular Heterotopia
Abnormal basal ganglia morphology, Abnormality of neuronal migration, Polymicrogyria, Hypoplasia ... ORPHA:101029
Microcephaly 5, Primary, Autosomal Recessive
Small cerebral cortex, Microcephaly, Cortical dysplasia, Cerebellar hypoplasia, Hypoplasia of the... OMIM:608716
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Microcephaly, Cortical dysplasia, Hypoplasia of the corpus callosum, Frontal polymicrogyria, Liss... OMIM:614039
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Gray matter heterotopia, Cavum septum pellucidum, Microcephaly, Corti... ORPHA:300573
Schizencephaly
Cerebral cortical atrophy, Agenesis of corpus callosum, Schizencephaly OMIM:269160
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Hypoplasia of the corpus callosum OMIM:613162
Lissencephaly, X-Linked, 1
Gray matter heterotopia, Agyria, Lissencephaly, Death in infancy, Pachygyria, Agenesis of corpus ... OMIM:300067
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Microcephaly, Dysplastic corpus callosum, Hypoplasia of the pons, Cerebellar atrophy OMIM:618276
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Abnormal basal ganglia morphology, Small basal ganglia, Normal pressure hydrocephalus, Large basa... ORPHA:300570
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Death in childhood, Hypoplasia of the pons, Cerebellar hypoplasia, Agenesis of cer... OMIM:613153
Congenital Hydrocephalus
Hydrocephalus, Small cerebral cortex, Abnormal cortical gyration, Lissencephaly, Ventriculomegaly... ORPHA:2185
Ventriculomegaly And Arthrogryposis
Cerebellar hypoplasia, Agenesis of corpus callosum, Ventriculomegaly OMIM:619501
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus, Cerebellar hypoplasia, Partial agenesis of the corpus callosum, Death in infancy, ... OMIM:619302
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Hydrocephalus, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellar vermis OMIM:300864
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Polymicrogyria ORPHA:250972
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Microcephaly, Cerebellar hypoplasia, Inferior cerebellar vermis hypoplasia, Partia... OMIM:304100
Microcephaly 17, Primary, Autosomal Recessive
Microcephaly, Cerebellar hypoplasia, Ventriculomegaly, Simplified gyral pattern, Microlissencepha... OMIM:617090
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Primary microcephaly OMIM:618010
Autosomal Recessive Spastic Paraplegia Type 69
Cerebral cortical atrophy, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellar vermis ORPHA:401830
Pontocerebellar Hypoplasia Type 2
Dysplastic corpus callosum, Impaired oropharyngeal swallow response, Cerebellar hypoplasia, Abnor... ORPHA:2524
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Cerebral cortical atrophy, Microcephaly, Hypoplasia of the pons, Ventriculomegaly, Dysphagia, Age... OMIM:617669
Craniotelencephalic Dysplasia
Hydrocephalus, Microcephaly, Frontal encephalocele, Arrhinencephaly, Cerebellar hypoplasia, Lisse... ORPHA:1528
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, ... ORPHA:488635
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal basal ganglia morphology, Abnormal cerebellum morphology, Cerebral atrophy, Microcephaly... ORPHA:255182
Masa Syndrome
Microcephaly, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:303350
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619101
Craniotelencephalic Dysplasia
Absent septum pellucidum, Frontal encephalocele, Arrhinencephaly, Cerebellar hypoplasia, Lissence... OMIM:218670
Central Neurocytoma
Cerebral calcification, Hydrocephalus, Abnormal lateral ventricle morphology ORPHA:73256
Peroxisome Biogenesis Disorder 6A (Zellweger)
Pachygyria, Colpocephaly OMIM:614870
Joubert Syndrome 23
Dysplastic corpus callosum, Cerebellar dysplasia OMIM:616490
Pontocerebellar Hypoplasia, Type 14
Hypoplasia of the pons, Cerebellar hypoplasia, Death in infancy, Simplified gyral pattern, Agenes... OMIM:619301
Mirror Movements 1
Agenesis of corpus callosum OMIM:157600
Mucolipidosis Iv
Cerebral dysmyelination, Microcephaly, Dysplastic corpus callosum, Cerebellar atrophy OMIM:252650
Gaba-Transaminase Deficiency
Cerebellar hypoplasia, Death in childhood, Agenesis of corpus callosum OMIM:613163
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Microcephaly, Polymicrogyria, Lissencephaly, Cerebellar atrophy, Agen... OMIM:614833
Fetal Akinesia Syndrome, X-Linked
Agenesis of corpus callosum, Stillbirth, Arrhinencephaly OMIM:300073
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum ORPHA:401815
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Partial agenesis of the corpus callosum, Cerebral atrophy, Agenesis of corpus callosum, Ventricul... ORPHA:85179
Lissencephaly 7 With Cerebellar Hypoplasia
Microcephaly, Neonatal death, Cerebellar hypoplasia, Agyria, Lissencephaly, Death in infancy, Age... OMIM:616342
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Small basal ganglia, Dysplastic corpus callosum, Cerebral atrophy, Cerebellar hypoplasia, Hypopla... OMIM:616900
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Microcephaly, Cerebellar hypoplasia, Ventriculomegaly, Hydranencephaly, Agenesis o... OMIM:225790
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydrocephalus, Gray matter heterotopia, Anencephaly, Cortical dysplasia, Cerebellar hypoplasia, T... OMIM:615287
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Pyruvate Dehydrogenase E1-Beta Deficiency
Periventricular heterotopia, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Short corp... ORPHA:255138
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Hypoplasia of the frontal lobes, Microcephaly, Ventriculomegaly, Pachygy... ORPHA:2512
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Dysplastic corpus callosum, Microcephaly, Cerebellar vermis hypoplasia, Dysphagia, Simplified gyr... OMIM:620001
Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Chiari malformation, Dysphagia, Spina b... OMIM:207950
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Gray matter heterotopia, Communicating hydrocephalus, Lissencephaly, Ventriculomegaly, Simplified... OMIM:615219
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation, Cortical dysplasia, Thick cerebral cortex, Cerebral hypoplasia ORPHA:101071
Lissencephaly 6 With Microcephaly
Periventricular heterotopia, Microcephaly, Polymicrogyria, Hypoplasia of the corpus callosum, Par... OMIM:616212
Amish Lethal Microcephaly
Microcephaly, Cerebellar vermis hypoplasia, Lissencephaly, Death in infancy, Ventriculomegaly, Sp... ORPHA:99742
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Chiari type I malformation, Agenesis of corpus callosum ORPHA:459074
Congenital Neuronal Ceroid Lipofuscinosis
Cerebral hypoplasia, Microcephaly, Cerebellar hypoplasia, Ventriculomegaly, Cerebellar atrophy, N... ORPHA:168486
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:614120
Microphthalmia-Brain Atrophy Syndrome
Abnormal pons morphology, Cerebellar vermis atrophy, Microcephaly, Corpus callosum atrophy, Diffu... ORPHA:77299
Lissencephaly Syndrome, Norman-Roberts Type
Cerebral calcification, 4-layered lissencephaly, Abnormality of neuronal migration, Hypoplasia of... ORPHA:89844
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia necrosis, Cerebral atrophy, Cerebellar gliosis, Basal ganglia cysts, Microcephaly, ... ORPHA:79243
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Gray matter heterotopia, Hypoplasia of the corpus callosum, Agenesis of co... OMIM:164180
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Hydrocephalus, Aqueductal stenosis, Absent septum pellucidum, Corticospinal tract hypoplasia, Age... OMIM:307000
Microhydranencephaly
Microcephaly, Cerebellar hypoplasia, Ventriculomegaly, Pachygyria, Hydranencephaly, Agenesis of c... OMIM:605013
Congenital Muscular Dystrophy With Cerebellar Involvement
Hydrocephalus, Abnormal cerebellum morphology, Gray matter heterotopia, Microcephaly, Hypoplasia ... ORPHA:370959
Combined Oxidative Phosphorylation Deficiency 12
Leukoencephalopathy, Dysplastic corpus callosum, Hypoplasia of the corpus callosum OMIM:614924
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Dysplastic corpus callosum OMIM:601016
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Microcephaly, Colpocephaly, Cerebellar hypoplasia, Polymicrogyria OMIM:618731
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Leukoencephalopathy, Hydrocephalus, Hypoplasia of the pons, Cerebellar hypoplasia, Polymicrogyria... OMIM:615181
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Lissencephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum OMIM:619466
Subependymal Nodular Heterotopia
Myelomeningocele, Gray matter heterotopia, Abnormality of neuronal migration, Polymicrogyria, Par... ORPHA:101030
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hydrocephalus, Periventricular heterotopia, Cerebellar hypoplasia, Abnormal cerebral white matter... OMIM:618476
Dworschak-Punetha Neurodevelopmental Syndrome
Microcephaly, Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum OMIM:619955
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Hypoplasia of the corpus callosum, Patent ductus arteriosus, Ventriculomegaly, Chi... OMIM:218350
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Craniosynostosis 6
Microcephaly, Spina bifida occulta, Cerebellar atrophy, Agenesis of corpus callosum, Dandy-Walker... OMIM:616602
Combined Oxidative Phosphorylation Deficiency 54
Periventricular nodular heterotopia, Secondary microcephaly, Dysplastic corpus callosum, Perivent... OMIM:619737
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Hydrocephalus, Aqueductal stenosis, Holoprosencephaly, Agenesis of corpus callosum, Absent septum... ORPHA:2182
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Multifocal cerebral white matter abnormalities, Dysplastic corpus callosum, Cerebral cortical atr... ORPHA:488627
Autosomal Recessive Cutis Laxa Type 2A
Dysplastic corpus callosum, Abnormal cerebellar vermis morphology, Dilated fourth ventricle, Cere... ORPHA:357058
Holoprosencephaly 11
Microcephaly, Agenesis of corpus callosum, Holoprosencephaly OMIM:614226
Acromelic Frontonasal Dysostosis
Gray matter heterotopia, Choroid plexus cyst, Periventricular nodular heterotopia, Hypoplasia of ... OMIM:603671
Alg2-Cdg
Abnormal basal ganglia MRI signal intensity, Microcephaly, Hypoplasia of the corpus callosum, Lat... ORPHA:79326
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Cerebral atrophy, Agenesis of corpus callosum, Death in infancy OMIM:600329
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus, Microcephaly, Cerebellar hypoplasia, Type II lissencephaly, Agyria, Lissencephaly,... OMIM:615249
Coach Syndrome 2
Cerebellar vermis hypoplasia, Hydrocephalus, Agenesis of corpus callosum OMIM:619111
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Microcephaly, Hypoplasia of the pons, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Wa... OMIM:618736
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Hypoplasia of the corpus callosum, Lateral ventricle dilatation, Cerebellar vermis hypoplasia, Li... ORPHA:284417
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Hypoplasia of the corpus callosum, Abnormal caudate nucleus morphology, Cerebral white matter atr... ORPHA:2148
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Hydrocephalus, Periventricular heterotopia, Microcephaly, Periventricular leukomalacia, Ventricul... OMIM:619833
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Microcephaly, Death in childhood, Dysplastic corpus callosum OMIM:604273
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Hydrocephalus, Encephalocele, Microcephaly, Partial absence of cerebellar vermis, Cerebellar hypo... OMIM:613150
Delpire-Mcneill Syndrome
Dysphagia, Cortical dysplasia, Agenesis of corpus callosum OMIM:619083
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Cerebellar hypoplasia, Dysplastic corpus callosum, Neonatal death OMIM:618810
Autosomal Dominant Non-Syndromic Intellectual Disability
Leukoencephalopathy, Cerebral atrophy, Microcephaly, Hypoplasia of the corpus callosum, Lateral v... ORPHA:178469
Combined Oxidative Phosphorylation Defect Type 39
Abnormal cerebellum morphology, Cerebral atrophy, Microcephaly, Corpus callosum atrophy, Cerebell... ORPHA:565624
Halperin-Birk Syndrome
Pseudobulbar paralysis, Death in childhood, Ventriculomegaly, Semilobar holoprosencephaly, Colpoc... OMIM:618651
Lissencephaly Type Iii And Bone Dysplasia
Microlissencephaly, Agenesis of corpus callosum, Agenesis of cerebellar vermis OMIM:601160
Cach Syndrome
Abnormal pons morphology, Cerebellar vermis atrophy, Dysgyria, Cerebral atrophy, Microcephaly, La... ORPHA:135
Combined Oxidative Phosphorylation Deficiency 53
Death in childhood, Dysplastic corpus callosum, Secondary microcephaly, Death in infancy OMIM:619423
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Microcephaly, Hypoplasia of the pons, Hypoplasia of the corpus callosum, Cerebellar vermis hypopl... OMIM:616975
Even-Plus Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum OMIM:616854
Microcephaly 26, Primary, Autosomal Dominant
Dysplastic corpus callosum, Microcephaly, Hypoplasia of the corpus callosum, Ventriculomegaly, Si... OMIM:619179
Walker-Warburg Syndrome
Hydrocephalus, Absent septum pellucidum, Macrogyria, Microcephaly, Abnormal cerebellar vermis mor... ORPHA:899
Arnold-Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Aqueductal stenosis, Cortical dysplasia, Abnormal medulla oblong... ORPHA:1136
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Hydrocephalus, Gray matter heterotopia, Pachygyria, Cerebellar hypoplasia, Polymicrogyria, Hypopl... OMIM:614643
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Dysplastic corpus callosum, Microcephaly, Partial agenesis of the corpus callosum, Focal polymicr... OMIM:619103
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation, Cerebral cortical hemiatrophy ORPHA:306669
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Elongated superior cerebellar peduncle, Abnormal basal ganglia morphology, Abnormal cerebellum mo... ORPHA:397715
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Cerebral cortical atrophy, Hypoplasia of the pons, Partial agenesis of the corpus callosum, Prima... ORPHA:500144
Kapur-Toriello Syndrome
Pachygyria, Dysplastic corpus callosum, Patent ductus arteriosus, Polymicrogyria ORPHA:2328
X-Linked Parkinsonism-Spasticity Syndrome
Diffuse cerebral atrophy, Lateral ventricle dilatation, Dilated third ventricle ORPHA:363654
Weiss-Kruszka Syndrome
Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Ventriculomegaly OMIM:618619
X-Linked Lissencephaly With Abnormal Genitalia
Microcephaly, Patent ductus arteriosus, Death in infancy, Ventriculomegaly, Pachygyria, Agenesis ... ORPHA:452
Bilateral Generalized Polymicrogyria
Microcephaly, Hypoplasia of the corpus callosum, Lateral ventricle dilatation, Diffuse white matt... ORPHA:208447
Wars2-Related Combined Oxidative Phosphorylation Defect
Leukoencephalopathy, Cerebral atrophy, Dilated fourth ventricle, Lateral ventricle dilatation, Ce... ORPHA:572798
Holoprosencephaly 14
Hydrocephalus, Periventricular heterotopia, Alobar holoprosencephaly, Aqueductal stenosis, Gray m... OMIM:619895
Fanconi Anemia, Complementation Group I
Absent septum pellucidum, Microcephaly, Chiari malformation, Colpocephaly, Agenesis of corpus cal... OMIM:609053
Corpus Callosum Agenesis-Neuronopathy Syndrome
Microcephaly, Agenesis of corpus callosum, Aqueductal stenosis ORPHA:1496
Curry-Jones Syndrome
Polymicrogyria, Ventriculomegaly, Megalencephaly, Chiari type I malformation, Hemimegalencephaly,... OMIM:601707
Slc35A2-Cdg
Cerebral atrophy, Microcephaly, Cortical dysplasia, Hypoplasia of the corpus callosum, Cerebral w... ORPHA:356961
Cerebrofacioarticular Syndrome
Dysplastic corpus callosum, Gray matter heterotopia, Microcephaly, Hypoplasia of the corpus callo... ORPHA:314679
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Thick corpus callosum, Dysplastic corpus callosum, Dilated third ventricle, Abnormal cerebellar v... ORPHA:544488
Severe X-Linked Intellectual Disability, Gustavson Type
Microcephaly, Dilated fourth ventricle, Cerebellar hypoplasia, Lateral ventricle dilatation, Dand... ORPHA:3078
Oculocerebrodental Syndrome
Dysplastic corpus callosum, Focal white matter lesions ORPHA:557003
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Hydrocephalus, Holoprosencephaly, Pachygyria, Cerebellar hypoplasia, Polymicrogyria, Type II liss... OMIM:253800
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellum, Holoprosencephaly ORPHA:990
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Gray matter heterotopia, Holoprosencephaly, Absent septum pellucidum,... OMIM:618820
Autosomal Recessive Spastic Paraplegia Type 11
Cerebral cortical atrophy, Frontal cortical atrophy, Hypoplasia of the corpus callosum, Focal T2 ... ORPHA:2822
Encephalocraniocutaneous Lipomatosis
Hydrocephalus, Cortical dysplasia, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Pore... OMIM:613001
16Q24.3 Microdeletion Syndrome
Periventricular heterotopia, Hypoplasia of the corpus callosum, Ventriculomegaly, Dysphagia, Colp... ORPHA:261250
Malan Overgrowth Syndrome
Lateral ventricle dilatation, Ventriculomegaly, Hypoplasia of the corpus callosum ORPHA:420179
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Microcephaly, Hypoplasia of the corpus callosum, Patent ductus arteriosus, Ventriculomegaly, Colp... OMIM:617260
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Periventricular heterotopia, Large basal ganglia, Focal hypointensity of cerebral white matter on... ORPHA:261552
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Hydrocephalus, Microcephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Polymicrog... OMIM:236670
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Dysplastic corpus callosum, Patent ductus arteriosus, Ventriculomegaly ORPHA:363444
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Patent ductus arteriosus, Agenesis of corpus callosum, Holoprosencephaly ORPHA:77298
X-Linked Intellectual Disability, Wilson Type
Lateral ventricle dilatation, Microcephaly ORPHA:85290
Holoprosencephaly 13, X-Linked
Alobar holoprosencephaly, Microcephaly, Patent ductus arteriosus, Septo-optic dysplasia, Semiloba... OMIM:301043
Cog5-Cdg
Microcephaly, Cerebral white matter atrophy, Lateral ventricle dilatation, Diffuse cerebral atrop... ORPHA:263487
Khan-Khan-Katsanis Syndrome
Microcephaly, Cerebellar vermis hypoplasia, Patent ductus arteriosus, Dysphagia, Colpocephaly OMIM:618460
Distal Monosomy 10Q
Cavum septum pellucidum, Microcephaly, Cerebellar hypoplasia, Spina bifida occulta, Inferior cere... ORPHA:96148
6Q Terminal Deletion Syndrome
Periventricular heterotopia, Gray matter heterotopia, Cerebellar hypoplasia, Polymicrogyria, Hypo... ORPHA:75857
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Microcephaly, Dysplastic corpus callosum, Hypoplasia of the corpus callosum OMIM:618569
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Choroid plexus cyst, Abnormal caudate nucleus morphology, Lateral ventricle dilatation, Primary m... ORPHA:293725
Isolated Exencephaly
Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellum, Holoprosencephaly ORPHA:563612
Spondyloenchondrodysplasia
Cerebral calcification, Abnormal lateral ventricle morphology, Abnormal periventricular white mat... ORPHA:1855
Mosaic Trisomy 1
Cerebellar hypoplasia, Polymicrogyria, Lateral ventricle dilatation, Cerebellar vermis hypoplasia... ORPHA:1692
Linear Skin Defects With Multiple Congenital Anomalies 1
Hydrocephalus, Absent septum pellucidum, Microcephaly, Colpocephaly, Agenesis of corpus callosum OMIM:309801
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Cavum septum pellucidum, Lateral ventricle dilatation, Abnormal cerebral white matter morphology,... ORPHA:457279
Basel-Vanagaite-Smirin-Yosef Syndrome
Cerebral atrophy, Cavum septum pellucidum, Microcephaly, Dilated third ventricle, Hypoplasia of t... ORPHA:464738
Smith-Lemli-Opitz Syndrome
Hydrocephalus, Periventricular heterotopia, Holoprosencephaly, Hypoplasia of the frontal lobes, M... OMIM:270400
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Cerebellar hemisphere hypoplasia, Dysplastic corpus callosum, Progressive ventriculomegaly, Hypop... ORPHA:500150
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Cerebral white matter hypoplasia, Colpocephaly, Hypoplasia of the corpus callosum, Enlarged cereb... ORPHA:477993
Zttk Syndrome
Dysplastic corpus callosum, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Abnormal ce... OMIM:617140
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Thick corpus callosum, Dysplastic corpus callosum, Patent ductus arteriosus, Cerebellar hypoplasia OMIM:300967
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Dysplastic corpus callosum, Pseudobulbar paralysis, Cerebellar hypoplasia, Hypoplasia of the corp... ORPHA:466791
Genitopatellar Syndrome
Periventricular heterotopia, Microcephaly, Dysphagia, Colpocephaly, Agenesis of corpus callosum OMIM:606170
White-Kernohan Syndrome
Dysplastic corpus callosum OMIM:619426
Prader-Willi Syndrome Due To Translocation
Lateral ventricle dilatation, Microcephaly, Cerebral cortical atrophy, Patent ductus arteriosus ORPHA:177907
Holoprosencephaly 1
Alobar holoprosencephaly, Microcephaly, Ethmocephaly, Cerebellar hypoplasia, Agenesis of corpus c... OMIM:236100
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal lateral ventricle morphology, Patent ductus arteriosus, Chiari malformation, Chiari type... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal lateral ventricle morphology, Patent ductus arteriosus, Chiari malformation, Chiari type... ORPHA:353277
Witteveen-Kolk Syndrome
Dysplastic corpus callosum, Microcephaly, Cortical dysplasia, Hypoplasia of the corpus callosum, ... OMIM:613406
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Periventricular heterotopia, Large basal ganglia, Focal hypointensity of cerebral white matter on... ORPHA:261537
Choreoacanthocytosis
Small basal ganglia, Cerebral cortical atrophy, Frontal cortical atrophy, Caudate atrophy, Latera... ORPHA:2388
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
OMIM:619964

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 Arfgef1

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 Arfgef1.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
BIG1/Arfgef1 and Arf1 regulate the initiation of myelination by Schwann cells in mice. Science advances (April 2018) Arfgef1tm1a(EUCOMM)Hmgu PMC5938228

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MGI Allele Allele Type Produced
Arfgef1em1(IMPC)Hmgu Exon Deletion Mice
Arfgef1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Arfgef1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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