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Gene: Arhgap5 MGI:1332637

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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:
Rho GTPase activating protein 5
Synonyms:
p190B,  p190-B

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 Arhgap5 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Arhgap5 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Band Heterotopia
Ventriculomegaly, Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Hydr... OMIM:600348
Polymicrogyria Due To Tubb2B Mutation
Abnormal corpus callosum morphology, Lateral ventricle dilatation, Dysgenesis of the basal gangli... ORPHA:300573
Pontocerebellar Hypoplasia, Type 12
Cerebral hypoplasia, Lateral ventricle dilatation, Cerebral atrophy, Death in infancy, Primary mi... OMIM:618266
Chudley-Mccullough Syndrome
Ventriculomegaly, Polymicrogyria, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, ... OMIM:604213
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Ventriculomegaly, Fine hair, Dysplastic corpus callosum, Abnormal cerebral white matter morpholog... ORPHA:500166
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Joint contracture of the hand, Hypoplastic anterior commissure, Dysgenesis of the basal ganglia, ... OMIM:600638
Schizencephaly
Cerebral cortical atrophy, Schizencephaly, Agenesis of corpus callosum OMIM:269160
Unilateral Hemispheric Polymicrogyria
Cortical dysplasia, Cerebral hypoplasia, Thick cerebral cortex, Lateral ventricle dilatation ORPHA:101071
Lissencephaly 4
Agenesis of corpus callosum, Colpocephaly, Primary microcephaly, Lissencephaly, Simplified gyral ... OMIM:614019
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Cerebral cortical atrophy, Lateral ventricle dilatation, Periventricular cysts, Death in infancy,... OMIM:617668
Leukoencephalopathy With Vanishing White Matter 5
Dilated third ventricle, Abnormal cerebral white matter morphology, Lateral ventricle dilatation,... OMIM:620315
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Abnormality of the anterior commissure, Hydrocephalus, Agenesis of corpus callosum OMIM:617542
Intellectual Developmental Disorder, X-Linked 103
Polymicrogyria, Lateral ventricle dilatation, Bilateral cryptorchidism OMIM:300982
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Lateral ventricle dilatation, Death in childhood, Microcephaly, Partial agenesis of the corpus ca... OMIM:619517
Martsolf Syndrome 2
Lateral ventricle dilatation, Camptodactyly of finger, Hypoplasia of the corpus callosum, Microce... OMIM:619420
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation, Cryptorchidism, Hypoplasia of the corpus callosum OMIM:616816
Leukoencephalopathy, Progressive, With Ovarian Failure
Leukoencephalopathy, Progressive leukoencephalopathy, Lateral ventricle dilatation, Periventricul... OMIM:615889
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventriculomegaly, Basal ganglia necrosis, Lateral ventricle dilatation, Cerebral atrophy, Polymic... ORPHA:79243
Alg2-Cdg
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly, Hyperintensity of ... ORPHA:79326
Polyrrhinia
Abnormal third ventricle morphology, Lateral ventricle dilatation ORPHA:141091
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Leukoencephalopathy, Reduced cerebral white matter volume, Secondary microcephaly, Dysplastic cor... OMIM:620317
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Short corpus callosum, Lateral ventricle dilatation OMIM:619972
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Leukoencephalopathy, Highly arched eyebrow, Dilated third ventricle, Lateral ventricle dilatation... OMIM:619244
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Flexion contracture, Hypoplasia of the corpus callosum OMIM:613162
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lateral ventricle dilatation, Agenesis of corpus callosum, Low anterior hairline, Microcephaly, D... OMIM:618736
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Ventriculomegaly, Lateral ventricle dilatation, Dilated fourth ventricle, Abnormal periventricula... OMIM:613443
Pontocerebellar Hypoplasia, Type 1A
Cerebral cortical atrophy, Neuronal loss in basal ganglia, Congenital contracture, Lateral ventri... OMIM:607596
Microphthalmia-Brain Atrophy Syndrome
Diffuse cerebral atrophy, Microcephaly, Corpus callosum atrophy, Lateral ventricle dilatation ORPHA:77299
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Ankle flexion contracture, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Knee ... ORPHA:284417
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Polymicrogyria, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Hemiparkinsonism-Hemiatrophy Syndrome
Cerebral cortical hemiatrophy, Lateral ventricle dilatation ORPHA:306669
Craniosynostosis 6
Lateral ventricle dilatation, Agenesis of corpus callosum, Low anterior hairline, Microcephaly, D... OMIM:616602
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus callosum OMIM:618890
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Leukoencephalopathy, Lateral ventricle dilatation, Cerebral atrophy, Basal ganglia calcification,... OMIM:221770
Glutamine Deficiency, Congenital
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Neonatal death, Camptodactyly, F... OMIM:610015
Familial Supernumerary Nipples
Supernumerary nipple ORPHA:2456
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Pachygyria, Thin corpus callosum, Abnormality of the anterior commissure ORPHA:572013
Holoprosencephaly 5
Hydrocephalus, Microcephaly, Lateral ventricle dilatation, Synophrys OMIM:609637
X-Linked Intellectual Disability, Wilson Type
Lateral ventricle dilatation, Abnormal position of hair whorl, Inguinal hernia, Microcephaly, Hyd... ORPHA:85290
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Lateral ventricle dilatation, Polymicrogyria, Type II lissencephaly, Small basal ganglia, Abnorma... ORPHA:300570
Peroxisome Biogenesis Disorder 6A (Zellweger)
Pachygyria, Colpocephaly, Neonatal death OMIM:614870
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Sparse eyebrow, Reduced cerebral white matter volume, Lateral ventricle dilatation, Parietal cort... OMIM:620075
Intellectual Developmental Disorder, Autosomal Dominant 48
Highly arched eyebrow, Lateral ventricle dilatation, Umbilical hernia, Polymicrogyria, Dilated fo... OMIM:617751
Cach Syndrome
Lateral ventricle dilatation, Cerebral atrophy, Hepatosplenomegaly, Dysgyria, Globus pallidus hyp... ORPHA:135
Joubert Syndrome 3
Highly arched eyebrow, Enlarged fossa interpeduncularis, Lateral ventricle dilatation, Thin corpu... OMIM:608629
Combined Oxidative Phosphorylation Defect Type 39
Abnormal corpus callosum morphology, Lateral ventricle dilatation, Cerebral atrophy, Deep white m... ORPHA:565624
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cerebral cortical atrophy, Ventriculomegaly, Lateral ventricle dilatation, Hypoplasia of the corp... ORPHA:488627
Weiss-Kruszka Syndrome
Decreased response to growth hormone stimulation test, Highly arched eyebrow, Dysplastic corpus c... ORPHA:502430
Lissencephaly Due To Tuba1A Mutation
Ventriculomegaly, Dysgenesis of the basal ganglia, Polymicrogyria, Dilated fourth ventricle, Hypo... ORPHA:171680
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Microcephaly, Thin corpus callosum, Lateral ventricle dilatation OMIM:615716
X-Linked Parkinsonism-Spasticity Syndrome
Diffuse cerebral atrophy, Dilated third ventricle, Lateral ventricle dilatation ORPHA:363654
Adams-Oliver Syndrome 2
Alopecia, Lateral ventricle dilatation, Cerebral atrophy, Polymicrogyria, Low anterior hairline, ... OMIM:614219
Bilateral Generalized Polymicrogyria
Diffuse white matter abnormalities, Microcephaly, Lateral ventricle dilatation, Hypoplasia of the... ORPHA:208447
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Cerebral cortical atrophy, Ventriculomegaly, Lateral ventricle dilatation, Multiple joint contrac... OMIM:618291
Lissencephaly 9 With Complex Brainstem Malformation
Hypoplastic anterior commissure, Hypoplasia of the corpus callosum, Microcephaly, Pachygyria, Lis... OMIM:618325
Pontocerebellar Hypoplasia, Type 13
Lateral ventricle dilatation, Long eyelashes, Hypoplasia of the corpus callosum, Low posterior ha... OMIM:618606
Stxbp1-Related Encephalopathy
Dysplastic corpus callosum, Cerebral white matter atrophy ORPHA:599373
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Alopecia, Sparse eyebrow, Dilated third ventricle, Lateral ventricle dilatation, Bilateral crypto... ORPHA:544488
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dysplastic corpus callosum, Microcephaly OMIM:618276
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Elevated hemoglobin A1c, Microcephaly, Lateral ventricle dilatation OMIM:619278
Global Developmental Delay With Or Without Impaired Intellectual Development
Lateral ventricle dilatation OMIM:618330
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly, Thin corpus callos... OMIM:614105
Giant Axonal Neuropathy 1, Autosomal Recessive
Abnormal pyramidal tract morphology, Lateral ventricle dilatation, Curly hair OMIM:256850
Slc35A2-Cdg
Lateral ventricle dilatation, Cerebral atrophy, Camptodactyly of finger, Cortical dysplasia, Hypo... ORPHA:356961
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Lateral ventricle dilatation, Secondary microcephaly, Abnormal caudate nucleus morphology, Hypopl... ORPHA:2148
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Lateral ventricle dilatation, Multifocal cerebral white matter abnormalities OMIM:600721
Congenital Hydrocephalus
Small cerebral cortex, Ventriculomegaly, Abnormal cortical gyration, Colpocephaly, Hydrocephalus,... ORPHA:2185
Malan Overgrowth Syndrome
Low posterior hairline, Ventriculomegaly, Lateral ventricle dilatation, Hypoplasia of the corpus ... ORPHA:420179
Intellectual Developmental Disorder, Autosomal Dominant 56
Secondary microcephaly, Thin corpus callosum, Lateral ventricle dilatation OMIM:617854
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Partial agenesis of the corpus callosum, Dilated third ventricle, Lateral ventricle dilatation, C... OMIM:617296
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Severe X-Linked Intellectual Disability, Gustavson Type
Lateral ventricle dilatation, Contractures of the large joints, Dilated fourth ventricle, Microce... ORPHA:3078
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lateral ventricle dilatation, Umbilical hernia, Inguinal hernia, Joint contracture of the 5th fin... OMIM:618914
Pseudo-Torch Syndrome 2
Ventriculomegaly, Lateral ventricle dilatation, Polymicrogyria, Cerebral calcification, Microceph... OMIM:617397
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Lateral ventricle dilatation, Cerebral atrophy, Cryptorchidism, Death in childhood, Microcephaly,... OMIM:619847
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Ventriculomegaly, Reduced cerebral white matter volume, Congenital contracture, Cerebral atrophy,... OMIM:620156
Chromosome 6Q24-Q25 Deletion Syndrome
Lateral ventricle dilatation, Probst bundles, Agenesis of corpus callosum, Low posterior hairline... OMIM:612863
Cog5-Cdg
Joint contracture of the hand, Abnormality of the frontal hairline, Lateral ventricle dilatation,... ORPHA:263487
Dworschak-Punetha Neurodevelopmental Syndrome
Sparse lateral eyebrow, Agenesis of corpus callosum, Dysplastic corpus callosum, Microcephaly, Co... OMIM:619955
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology, Hypoplasia of the corpus callosum ORPHA:488635
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Paganini-Miozzo Syndrome
Lateral ventricle dilatation OMIM:301025
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Dilated third ventricle, Lateral ventricle dilatation, Basal ganglia calcification, Cerebral calc... OMIM:620371
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Dilated third ventricle, Lateral ventricle dilatation, Type II lissencephaly, H... OMIM:613154
Wars2-Related Combined Oxidative Phosphorylation Defect
Leukoencephalopathy, Ventriculomegaly, Lateral ventricle dilatation, Cerebral atrophy, Dilated fo... ORPHA:572798
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly, Hypoplasia of the corpus callosum ORPHA:401815
Basel-Vanagaite-Smirin-Yosef Syndrome
Sparse eyebrow, Cholelithiasis, Dilated third ventricle, Lateral ventricle dilatation, Cerebral a... ORPHA:464738
2,4-Dienoyl-Coa Reductase Deficiency
Ventriculomegaly, Cerebral atrophy, Death in childhood, Death in infancy, Hypoplasia of the corpu... OMIM:616034
Central Neurocytoma
Abnormal lateral ventricle morphology, Cerebral calcification, Hydrocephalus ORPHA:73256
Linear Skin Defects With Multiple Congenital Anomalies 3
Thyroid C cell hyperplasia, Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:300952
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal corpus callosum morphology, Lateral ventricle dilatation, Supernumerary nipple, Contract... ORPHA:457279
Bainbridge-Ropers Syndrome
Highly arched eyebrow, Lateral ventricle dilatation, Supernumerary nipple, Thin eyebrow, Long eye... OMIM:615485
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Highly arched eyebrow, Ventriculomegaly, Cerebral atrophy, Small basal ganglia, Abnormal perivent... OMIM:616900
Congenital Disorder Of Glycosylation, Type Iig
Giant platelets, Lateral ventricle dilatation, Cerebral atrophy, Cryptorchidism, Microcephaly, An... OMIM:611209
Mucolipidosis Iv
Dysplastic corpus callosum, Microcephaly, Cerebral dysmyelination OMIM:252650
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Abnormal corpus callosum morphology, Ventriculomegaly, Dilated third ventricle, Open operculum, L... ORPHA:397715
Mitochondrial Complex I Deficiency, Nuclear Type 39
Anemia, Dysplastic corpus callosum, Cryptorchidism OMIM:620135
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Cerebral cortical atrophy, Lewy bodies, Lateral ventricle dilatation, Neurofibrillary tangles OMIM:607485
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Death in childhood, Anisocytosis, Dysplastic corpus callosum, Microcephaly, Camptodactyly, Flexio... OMIM:604273
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Lateral ventricle dilatation, Periventricular leukomalacia, Abnormal caudate nucleus morphology, ... ORPHA:293725
Aicardi-Goutieres Syndrome 9
Lateral ventricle dilatation, Cerebral atrophy, Basal ganglia calcification, Hepatosplenomegaly, ... OMIM:619487
Autosomal Recessive Spastic Paraplegia Type 11
Cerebral cortical atrophy, Lateral ventricle dilatation, Abnormal substantia nigra morphology, Fo... ORPHA:2822
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum, Microcephaly, Flexion co... OMIM:614833
Den Hoed-De Boer-Voisin Syndrome
Ventriculomegaly, Lateral ventricle dilatation, Secondary microcephaly, Thick eyebrow, Death in a... OMIM:619229
Aicardi Syndrome
Dilated third ventricle, Sparse lateral eyebrow, Lateral ventricle dilatation, Polymicrogyria, Hi... OMIM:304050
Mosaic Trisomy 1
Lateral ventricle dilatation, Camptodactyly of finger, Elbow flexion contracture, Polymicrogyria,... ORPHA:1692
Noonan Syndrome 14
Sparse eyebrow, Lateral ventricle dilatation, Lymphopenia, Cryptorchidism, Low posterior hairline... OMIM:619745
Weaver Syndrome
Joint contracture of the hand, Ventriculomegaly, Lateral ventricle dilatation, Fine hair, Umbilic... OMIM:277590
Osteopetrosis, Autosomal Recessive 7
Lateral ventricle dilatation, Splenomegaly, Death in infancy, Death in childhood, Hydrocephalus, ... OMIM:612301
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lateral ventricle dilatation OMIM:619995
Even-Plus Syndrome
Highly arched eyebrow, Agenesis of corpus callosum, Dysplastic corpus callosum, Sparse hair, Syno... OMIM:616854
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Lateral ventricle dilatation, Cryptorchidism, Hip contracture, Sparse eyelashes, Agenesis of corp... OMIM:210710
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Combined Oxidative Phosphorylation Deficiency 53
Secondary microcephaly, Death in childhood, Death in infancy, Dysplastic corpus callosum, Hypochr... OMIM:619423
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Ventriculomegaly, Hypoplastic anterior commissure, Annular pancreas, Cryptorchidism, Hypoplasia o... OMIM:616975
Distal Deletion 10Q
Microcephaly, Lateral ventricle dilatation, Widow's peak, Cavum septum pellucidum ORPHA:96148
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Small pituitary gland, Ventriculomegaly, Lateral ventricle dilatation, Hypertrichosis, Hypoplasia... OMIM:619479
Pontocerebellar Hypoplasia Type 2
Abnormal cortical gyration, Ventriculomegaly, Hypoplasia of the corpus callosum, Dysplastic corpu... ORPHA:2524
Weiss-Kruszka Syndrome
Highly arched eyebrow, Ventriculomegaly, Hypoplasia of the corpus callosum, Agenesis of corpus ca... OMIM:618619
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Sparse eyebrow, Neonatal death, Dysplastic corpus callosum, Brittle hair, Hydrocele testis OMIM:618810
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Ventriculomegaly, Agenesis of corpus callosum, Microcephaly, Colpocephaly, Hydrocephalus, Communi... OMIM:615219
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Dysplastic corpus callosum, Microcephaly, Flexion contracture, Sparse hair, Simplified gyral pattern OMIM:620001
Gabriele-De Vries Syndrome
Sparse eyebrow, Lateral ventricle dilatation, Frontal upsweep of hair, Cryptorchidism, Distal art... OMIM:617557
Developmental And Epileptic Encephalopathy 31B
Ventriculomegaly, Reduced cerebral white matter volume, Secondary microcephaly, Agenesis of corpu... OMIM:620352
Halperin-Birk Syndrome
Ventriculomegaly, Umbilical hernia, Long eyelashes, Inguinal hernia, Congenital diaphragmatic her... OMIM:618651
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Microcephaly, Colpocephaly, Polymicrogyria OMIM:618731
Keppen-Lubinsky Syndrome
Lateral ventricle dilatation, Generalized lipodystrophy, Absence of subcutaneous fat, Microcephal... OMIM:614098
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Ventriculomegaly, Long eyelashes, Thick eyebrow, Periventricular leukomalacia, Microcephaly, Colp... OMIM:619833
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Cerebral cortical atrophy, Lateral ventricle dilatation, Elbow flexion contracture, Secondary mic... OMIM:300868
Neurocardiofaciodigital Syndrome
Sparse eyebrow, Lateral ventricle dilatation, Dilated fourth ventricle, Hypoplasia of the corpus ... OMIM:619869
Combined Oxidative Phosphorylation Deficiency 54
Dysplastic corpus callosum, Secondary microcephaly, Periventricular white matter hyperintensities OMIM:619737
Autosomal Recessive Cutis Laxa Type 2A
Secondary microcephaly, Dilated fourth ventricle, Inguinal hernia, Dysplastic corpus callosum, Pr... ORPHA:357058
Fanconi Anemia, Complementation Group I
Bone marrow hypocellularity, Decreased response to growth hormone stimulation test, Absent septum... OMIM:609053
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Hypertrichosis, Secondary microcephaly, Hypoplasia of the corpus callosum, Agenesis of corpus cal... OMIM:620113
Prader-Willi Syndrome Due To Translocation
Cerebral cortical atrophy, Lateral ventricle dilatation, Decreased response to growth hormone sti... ORPHA:177907
Microcephaly 26, Primary, Autosomal Dominant
Ventriculomegaly, Prominent eyelashes, Hypoplasia of the corpus callosum, Dysplastic corpus callo... OMIM:619179
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Microcephaly OMIM:618010
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Basal ganglia calcification, Long eyelashes, Thick eyebrow, Cerebral calcificat... OMIM:617281
Oculoskeletodental Syndrome
Dysplastic corpus callosum, Abnormality of the frontal hairline, Focal white matter lesions, Enam... ORPHA:557003
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Microcephaly, Thick eyebrow, Lateral ventricle dilatation, Hypoplasia of the corpus callosum OMIM:618367
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation OMIM:619575
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Sparse eyebrow, Progressive ventriculomegaly, Ventriculomegaly, Lateral ventricle dilatation, Abn... ORPHA:500150
Scalp-Ear-Nipple Syndrome
Sparse pubic hair, Lateral ventricle dilatation, Fine hair, Breast aplasia, Sparse axillary hair,... OMIM:181270
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Ventriculomegaly, Decreased response to growth hormone stimulation test, Hypoplasia of the corpus... OMIM:617260
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pachygyria, Lateral ventricle dilatation, Pancreatic fibrosis OMIM:263520
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Sparse lateral eyebrow, Focal polymicrogyria, Cryptorchidism, Dysplastic corpus callosum, Microce... OMIM:619103
16Q24.3 Microdeletion Syndrome
Highly arched eyebrow, Ventriculomegaly, Increased mean corpuscular volume, Cryptorchidism, Hypop... ORPHA:261250
Helsmoortel-Van Der Aa Syndrome
High anterior hairline, Ventriculomegaly, Lateral ventricle dilatation, Decreased response to gro... OMIM:615873
Spondyloenchondrodysplasia
Ventriculomegaly, Decreased response to growth hormone stimulation test, Pancytopenia, Abnormal l... ORPHA:1855
Chromosome 1P36 Deletion Syndrome, Distal
Leukoencephalopathy, Cerebral cortical atrophy, Horizontal eyebrow, Lateral ventricle dilatation,... OMIM:607872
Congenital Disorder Of Glycosylation, Type Iim
Lateral ventricle dilatation, Cerebral atrophy, Thick eyebrow, Hypoplasia of the corpus callosum,... OMIM:300896
Kapur-Toriello Syndrome
Dysplastic corpus callosum, Pachygyria, Polymicrogyria ORPHA:2328
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Dry hair, Hypoplasia of the corpus callosum, Low anterior hairline, Dysplastic corpus callosum, M... OMIM:618569
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Abnormal corpus callosum morphology, Highly arched eyebrow, Hypoplastic anterior commissure, Late... ORPHA:261552
Choreoacanthocytosis
Cerebral cortical atrophy, Lateral ventricle dilatation, Small basal ganglia, Acanthocytosis, Spl... ORPHA:2388
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Camptodactyly, Ventriculomegaly, High anterior hairline, Dysplastic corpus callosum ORPHA:363444
Cerebrofacioarticular Syndrome
Ventriculomegaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Dysplastic corp... ORPHA:314679
Kabuki Syndrome 1
Highly arched eyebrow, Sparse eyebrow, Prominent eyelashes, Lateral ventricle dilatation, Cryptor... OMIM:147920
Peroxisome Biogenesis Disorder 5A (Zellweger)
Polymicrogyria, Pachygyria, Hepatosplenomegaly, Splenomegaly, Cryptorchidism, Agenesis of corpus ... OMIM:614866
Combined Oxidative Phosphorylation Deficiency 12
Dysplastic corpus callosum, Leukoencephalopathy, Hypoplasia of the corpus callosum, Agenesis of c... OMIM:614924
Linear Skin Defects With Multiple Congenital Anomalies 1
Absent septum pellucidum, Congenital diaphragmatic hernia, Agenesis of corpus callosum, Microceph... OMIM:309801
Genitourinary And/Or Brain Malformation Syndrome
Polymicrogyria, Secondary microcephaly, Streak ovary, Cryptorchidism, Absent septum pellucidum, A... OMIM:618820
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Sparse eyebrow, High anterior hairline, Hypertrichosis, Supernumerary nipple, Cryptorchidism, Hyp... ORPHA:477993
Lenz-Majewski Hyperostotic Dwarfism
Cerebral cortical atrophy, Ventriculomegaly, Elbow flexion contracture, Inguinal hernia, Knee fle... OMIM:151050
Khan-Khan-Katsanis Syndrome
Highly arched eyebrow, Trichiasis, Ventriculomegaly, Lymphopenia, Corneal scarring, Microcephaly,... OMIM:618460
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Abnormal corpus callosum morphology, Lateral ventricle dilatation, Polymicrogyria, Secondary micr... ORPHA:261537
Biliary, Renal, Neurologic, And Skeletal Syndrome
Frontotemporal cerebral atrophy, Lateral ventricle dilatation, Splenomegaly, Inguinal hernia, Neo... OMIM:619534
6Q Terminal Deletion Syndrome
Highly arched eyebrow, Abnormal cerebral cortex morphology, Polymicrogyria, Hypoplasia of the cor... ORPHA:75857
Holoprosencephaly 13, X-Linked
Microcephaly, Colpocephaly, Septo-optic dysplasia, Agenesis of corpus callosum OMIM:301043
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Highly arched eyebrow, Colpocephaly, Microcephaly, Cryptorchidism OMIM:620083
Zttk Syndrome
Sparse eyebrow, Ventriculomegaly, Absent gallbladder, Periventricular leukomalacia, Hypoplasia of... OMIM:617140
Smith-Lemli-Opitz Syndrome
Splenomegaly, Cryptorchidism, Death in infancy, Diffuse cerebral atrophy, Microcephaly, Colpoceph... OMIM:270400
White-Kernohan Syndrome
Horizontal eyebrow, Long eyelashes, Thick eyebrow, Broad medial eyebrow, Dysplastic corpus callos... OMIM:619426
Genitopatellar Syndrome
Cryptorchidism, Knee flexion contracture, Hip contracture, Agenesis of corpus callosum, Microceph... OMIM:606170
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Dysplastic corpus callosum, Pineal cyst, Cryptorchidism, Thick corpus callosum OMIM:300967
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal corpus callosum morphology, Highly arched eyebrow, Trichiasis, Keloids, Secondary microc... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal corpus callosum morphology, Highly arched eyebrow, Trichiasis, Keloids, Secondary microc... ORPHA:353277
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Bilateral cryptorchidism, Supernumerary nipple, Cryptorchidism, Hypoplasia of the corpus callosum... ORPHA:466791
Witteveen-Kolk Syndrome
High anterior hairline, Ventriculomegaly, Fine hair, Decreased response to growth hormone stimula... OMIM:613406

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 Arhgap5

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 Arhgap5.

No publications found that use IMPC mice or data for Arhgap5.

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
Arhgap5tm417243(Ifitm2_intron_L1L2_GT0_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Arhgap5tm417243(Ifitm2_intron_L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Arhgap5tm435883(Ifitm2_intron_L1L2_GT1_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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