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:
p190-B,  p190B

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 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
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Hypoplasia of the corpu... ORPHA:300573
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Ventriculomegaly, Abnormal cerebral white matter morphology, Dysplastic corpus callosum, Fine hai... ORPHA:500166
Chudley-Mccullough Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Dysplastic corpus callosum, Polymicrogyria, ... OMIM:604213
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Hydrocephalus, Apnea, Agenesis of corpus callosum, Dilation of lateral ventricles OMIM:300864
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Fusion of the left and right thalami, Abnormality of the anterior commissure, Abse... OMIM:617542
Schizencephaly
Cerebral cortical atrophy, Agenesis of corpus callosum, Schizencephaly OMIM:269160
Hypotonia, Infantile, With Psychomotor Retardation
Cryptorchidism, Respiratory insufficiency due to muscle weakness, Hypoplasia of the corpus callos... OMIM:616816
Unilateral Hemispheric Polymicrogyria
Cerebral hypoplasia, Cortical dysplasia, Dilation of lateral ventricles, Thick cerebral cortex ORPHA:101071
Polyrrhinia
Abnormal third ventricle morphology, Dilation of lateral ventricles ORPHA:141091
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress, Ventriculomegaly, Primary microcephaly, Polymicrogyria, Agenesis of corpus ... ORPHA:171703
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia necrosis, Basal ganglia gliosis, Basal ganglia cysts, Hypoplasia of the corpus call... ORPHA:79243
Spastic Paraplegia 45, Autosomal Recessive
Hypoplasia of the corpus callosum, Flexion contracture, Dysplastic corpus callosum OMIM:613162
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Low anterior hairline, Dandy-Walker malformation, Microcephaly, Agenesis of corpus callosum, Dila... OMIM:618736
Glutamine Deficiency, Congenital
Apnea, Hypoplasia of the corpus callosum, Camptodactyly, Flexion contracture, Subependymal cysts,... OMIM:610015
Hemiparkinsonism-Hemiatrophy Syndrome
Neonatal asphyxia, Cerebral cortical hemiatrophy, Dilation of lateral ventricles ORPHA:306669
Microcephaly 5, Primary, Autosomal Recessive
Highly arched eyebrow, Hypoplasia of the corpus callosum, Ventriculomegaly, Small cerebral cortex... OMIM:608716
D-2-Hydroxyglutaric Aciduria 1
Apnea, Inspiratory stridor, Subependymal cysts, Multifocal cerebral white matter abnormalities, D... OMIM:600721
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Cerebral atrophy, Dilation of lateral ventricles, Partial agenesis of the corpus callosum OMIM:617296
Mental Retardation, Autosomal Dominant 48
Highly arched eyebrow, Hypoplasia of the corpus callosum, Dilated fourth ventricle, Polymicrogyri... OMIM:617751
Pontocerebellar Hypoplasia, Type 13
Sleep apnea, Hypoplasia of the corpus callosum, Hypoplastic hippocampus, Pleural effusion, Long e... OMIM:618606
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Polymicrogyria, Agenesis of corpus callosum, Colpocephaly ORPHA:250972
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Hypoplasia of the corpus callosum, Ankle flexion contracture, Cerebral white matter hypoplasia, P... ORPHA:284417
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia, Agenesis of corpus callosum, Hydrocephalus OMIM:166990
Microphthalmia-Brain Atrophy Syndrome
Microcephaly, Diffuse cerebral atrophy, Corpus callosum atrophy, Dilation of lateral ventricles ORPHA:77299
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Hypoplastic hippocampus, Ventriculomegaly, Cerebral atrophy, Pneumonia, Agenesis of corpus callos... ORPHA:85179
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Hypoplasia of the corpus callosum, Microcephaly, Dilation of lateral ventricles OMIM:618890
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Abnormality of thalamus morphology, Type II lissencephaly, Normal pressure hydrocephalus, Hypopla... ORPHA:300570
Autosomal Dominant Non-Syndromic Intellectual Disability
Bilateral generalized polymicrogyria, Hypoplasia of the corpus callosum, Abnormal cerebral white ... ORPHA:178469
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Pachygyria, Cerebral white matter atrophy, Abnormal caudate nucleus morphology, Hypoplasia of the... ORPHA:2148
Mirror Movements 1
Agenesis of corpus callosum OMIM:157600
Familial Supernumerary Nipples
Supernumerary nipple ORPHA:2456
Bilateral Generalized Polymicrogyria
Diffuse white matter abnormalities, Hypoplasia of the corpus callosum, Hypoplastic hippocampus, A... ORPHA:208447
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Dilation of lateral ventricles, Cerebral cor... ORPHA:488627
Combined Oxidative Phosphorylation Defect Type 39
Cryptorchidism, Congenital foot contractures, Corpus callosum atrophy, Hypoplasia of the corpus c... ORPHA:565624
X-Linked Intellectual Disability, Wilson Type
Hydrocele testis, Abnormal position of hair whorl, Inguinal hernia, Microcephaly, Dilation of lat... ORPHA:85290
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Microcephaly, Dysplastic corpus callosum OMIM:618276
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Diffuse cerebral atrophy, Dilation of lateral ventricles ORPHA:363654
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sparse eyebrow, Absent eyelashes, Bilateral cryptorchidism, Absent eyebrow, Sparse scalp hair, Dy... ORPHA:544488
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Primary microcephaly OMIM:618010
Slc35A2-Cdg
Camptodactyly of finger, Cerebral white matter atrophy, Hypoplasia of the corpus callosum, Abnorm... ORPHA:356961
Severe X-Linked Intellectual Disability, Gustavson Type
Dilation of lateral ventricles, Dilated fourth ventricle, Apneic episodes in infancy, Microcephal... ORPHA:3078
Linear Skin Defects With Multiple Congenital Anomalies 3
Agenesis of corpus callosum, Dilation of lateral ventricles OMIM:300952
Cach Syndrome
T2 hypointense thalamus, Arthrogryposis multiplex congenita, Cerebral atrophy, Flexion contractur... ORPHA:135
Joubert Syndrome 23
Tachypnea, Dysplastic corpus callosum, Apnea OMIM:616490
Malan Overgrowth Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Low posterior hairline, Dilation of lateral ... ORPHA:420179
Congenital Hydrocephalus
Colpocephaly, Ventriculomegaly, Small cerebral cortex, Abnormal cortical gyration, Hydrocephalus,... ORPHA:2185
Ventriculomegaly With Defects Of The Radius And Kidney
Ventriculomegaly, Hydrocephalus, Dilation of lateral ventricles OMIM:602200
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Elevated hemoglobin A1c, Microcephaly, Dilation of lateral ventricles OMIM:619278
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Dysplastic corpus callosum, Camptodactyly, Anterior hypopituitarism, Joint contracture of the hand OMIM:601016
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Hypoplastic hippocampus, Cerebral atrophy, Death in infancy, Agenesis of corpus callosum OMIM:600329
Peroxisome Biogenesis Disorder 6A (Zellweger)
Pachygyria, Colpocephaly OMIM:614870
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Hypoplasia of the corpus callosum, Joint contracture of the 5th finger, Umbilical hernia, Inguina... OMIM:618914
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Open operculum, Apnea, Tachypnea, Absent septum pellucidum, Ventriculomegaly, Dandy-Walker malfor... ORPHA:397715
Cog5-Cdg
Cryptorchidism, Camptodactyly of finger, Cerebral white matter atrophy, Diffuse cerebral atrophy,... ORPHA:263487
Basel-Vanagaite-Smirin-Yosef Syndrome
Cavum septum pellucidum, Sparse eyebrow, Hypoplasia of the corpus callosum, Cerebral atrophy, Cho... ORPHA:464738
Paganini-Miozzo Syndrome
Dilation of lateral ventricles OMIM:301025
Wars2-Related Combined Oxidative Phosphorylation Defect
Abnormal periventricular white matter morphology, Ventriculomegaly, Cerebral atrophy, Cerebral wh... ORPHA:572798
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Hypoplasia of the corpus callosum, Abnormal lateral ventricle morphology ORPHA:488635
Autosomal Recessive Spastic Paraplegia Type 11
Focal T2 hyperintense basal ganglia lesion, Frontal cortical atrophy, Hypoplasia of the corpus ca... ORPHA:2822
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Cavum septum pellucidum, Contracture of the proximal interphalangeal joint of the 4th toe, Abnorm... ORPHA:457279
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum
Goiter, Agenesis of corpus callosum OMIM:225040
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Cerebral cortical atrophy, Lewy bodies, Dilation of lateral ventricles, Neurofibrillary tangles OMIM:607485
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Abnormal caudate nucleus morphology, Choroid plexus cyst, Primary microcephaly, Periventricular l... ORPHA:293725
Aicardi Syndrome
Cavum septum pellucidum, Hiatus hernia, Pachygyria, Choroid plexus cyst, Polymicrogyria, Sparse l... OMIM:304050
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Highly arched eyebrow, Abnormal periventricular white matter morphology, Hypoplasia of the corpus... OMIM:616900
Central Neurocytoma
Abnormal lateral ventricle morphology, Cerebral calcification, Hydrocephalus ORPHA:73256
Mosaic Trisomy 1
Camptodactyly of finger, Omphalocele, Polymicrogyria, Congenital diaphragmatic hernia, Elbow flex... ORPHA:1692
Osteopetrosis, Autosomal Recessive 7
Recurrent pneumonia, Death in infancy, Death in childhood, Anemia, Splenomegaly, Hydrocephalus, D... OMIM:612301
Autosomal Recessive Spastic Paraplegia Type 66
Hypoplasia of the corpus callosum, Colpocephaly ORPHA:401815
Mucolipidosis Iv
Cerebral dysmyelination, Microcephaly, Dysplastic corpus callosum OMIM:252650
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Flexion contracture, Dysplastic corpus callosum, Polymicrogyria, Microcephaly, Agenesis of corpus... OMIM:614833
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Flexion contracture of thumb, Agenesis of corpus callosum, Absent septum pellucidum, Corticospina... OMIM:307000
Kohlschutter-Tonz Syndrome-Like
Enamel hypoplasia, Amelogenesis imperfecta, Ventriculomegaly, Death in adolescence, Widow's peak,... OMIM:619229
Weaver Syndrome
Cryptorchidism, Hydrocele testis, Sparse hair, Absent septum pellucidum, Camptodactyly, Umbilical... OMIM:277590
Combined Oxidative Phosphorylation Deficiency 12
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Leukoencephalopathy OMIM:614924
Distal Monosomy 10Q
Cavum septum pellucidum, Widow's peak, Microcephaly, Dilation of lateral ventricles ORPHA:96148
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Cryptorchidism, Sleep apnea, Hypoplasia of the corpus callosum, Ventriculomegaly, Widow's peak, B... OMIM:616975
Glutaric Acidemia I
Dilation of lateral ventricles OMIM:231670
Neurodevelopmental Disorder With Spastic Quadriplegia, Optic Atrophy, Seizures, And Structural Brain Anomalies
Colpocephaly, Aspiration, Ventriculomegaly, Flexion contracture, Long eyelashes, Umbilical hernia... OMIM:618651
Pontocerebellar Hypoplasia Type 2
Apnea, Hypoplasia of the corpus callosum, Ventriculomegaly, Dysplastic corpus callosum, Abnormal ... ORPHA:2524
Cardiofaciocutaneous Syndrome 4
Hypoplasia of the corpus callosum, Abnormal lateral ventricle morphology, Absent eyebrow OMIM:615280
Weiss-Kruszka Syndrome
Highly arched eyebrow, Colpocephaly, Hypoplasia of the corpus callosum, Ventriculomegaly, Agenesi... OMIM:618619
Fanconi Anemia, Complementation Group I
Agenesis of corpus callosum, Absent septum pellucidum, Neutropenia, Microcephaly, Bone marrow hyp... OMIM:609053
Even-Plus Syndrome
Highly arched eyebrow, Sparse hair, Synophrys, Dysplastic corpus callosum, Agenesis of corpus cal... OMIM:616854
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Microcephaly, Polymicrogyria, Colpocephaly OMIM:618731
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hydrocele testis, Sparse eyebrow, Dysplastic corpus callosum, Neonatal death, Brittle hair OMIM:618810
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of hair, Respiratory distress, Anterior pituitary hypoplasia, Cerebral cortical ... ORPHA:177907
Microcephaly 26, Primary, Autosomal Dominant
Recurrent pneumonia, Pachygyria, Prominent eyelashes, Hypoplasia of the corpus callosum, Ventricu... OMIM:619179
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Colpocephaly, Ventriculomegaly, Simplified gyral pattern, Communicating hydrocephalus, Lissencephaly OMIM:615219
Oculocerebrodental Syndrome
Abnormality of thalamus morphology, Enamel hypoplasia, Focal white matter lesions, Dysplastic cor... ORPHA:557003
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Progressive ventriculomegaly, Sparse eyebrow, Hypoplasia of the corpus callosum, Abnormal cerebra... ORPHA:500150
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pachygyria, Dilation of lateral ventricles, Pancreatic fibrosis OMIM:263520
Spondyloenchondrodysplasia
Abnormal periventricular white matter morphology, Autoimmune thrombocytopenia, Autoimmune hemolyt... ORPHA:1855
Autosomal Recessive Cutis Laxa Type 2A
Pachygyria, Thick cerebral cortex, Thick hair, Primary microcephaly, Dysplastic corpus callosum, ... ORPHA:357058
16Q24.3 Microdeletion Syndrome
Cryptorchidism, Highly arched eyebrow, Hypoplasia of the corpus callosum, Ventriculomegaly, Throm... ORPHA:261250
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Cryptorchidism, Focal polymicrogyria, Dysplastic corpus callosum, Sparse lateral eyebrow, Microce... OMIM:619103
Congenital Disorder Of Glycosylation, Type Iim
Enamel hypoplasia, Hypoplasia of the corpus callosum, Cerebral atrophy, Thick eyebrow, Microcepha... OMIM:300896
Choreoacanthocytosis
Frontal cortical atrophy, Hypoplastic hippocampus, Abnormal putamen morphology, Cerebral cortical... ORPHA:2388
Cerebrofacioarticular Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Camptodactyly, Tracheomalacia, Dysplastic co... ORPHA:314679
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Ventriculomegaly, High anterior hairline, Camptodactyly, Dysplastic corpus callosum, Premature ov... ORPHA:363444
Kapur-Toriello Syndrome
Dysplastic corpus callosum, Polymicrogyria, Pachygyria ORPHA:2328
Chromosome 1P36 Deletion Syndrome
Cryptorchidism, Camptodactyly of finger, Pachygyria, Hydrocephalus, Horizontal eyebrow, Hypoplasi... OMIM:607872
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Cryptorchidism, Hydrocele testis, Highly arched eyebrow, Hypoplasia of the corpus callosum, Campt... ORPHA:261552
Linear Skin Defects With Multiple Congenital Anomalies 1
Colpocephaly, Hydrocephalus, Absent septum pellucidum, Congenital diaphragmatic hernia, Microceph... OMIM:309801
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Low anterior hairline, Dry hair, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, M... OMIM:618569
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Cryptorchidism, Hydrocele testis, Hypoplasia of the corpus callosum, Camptodactyly, Flexion contr... ORPHA:261537
Genitourinary And/Or Brain Malformation Syndrome
Cryptorchidism, Agenesis of corpus callosum, Absent septum pellucidum, Streak ovary, Omphalocele,... OMIM:618820
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Cryptorchidism, Sparse eyebrow, Hypoplasia of the corpus callosum, High anterior hairline, Cerebr... ORPHA:477993
Holoprosencephaly 13, X-Linked
Microcephaly, Septo-optic dysplasia, Colpocephaly, Agenesis of corpus callosum OMIM:301043
Khan-Khan-Katsanis Syndrome
Corneal scarring, Microcephaly, Flexion contracture, Colpocephaly OMIM:618460
6Q Terminal Deletion Syndrome
Low anterior hairline, Highly arched eyebrow, Hypoplasia of the corpus callosum, Abnormal cerebra... ORPHA:75857
Zttk Syndrome
Sparse eyebrow, Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Ven... OMIM:617140
Genitopatellar Syndrome
Cryptorchidism, Agenesis of corpus callosum, Sparse scalp hair, Hip contracture, Knee flexion con... OMIM:606170
Witteveen-Kolk Syndrome
Cryptorchidism, Medial flaring of the eyebrow, Hypoplasia of the corpus callosum, Ventriculomegal... OMIM:613406
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Cryptorchidism, Hydrocele testis, Highly arched eyebrow, Aspiration, Trichiasis, Pneumonia, Keloi... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Cryptorchidism, Hydrocele testis, Highly arched eyebrow, Aspiration, Trichiasis, Pneumonia, Keloi... ORPHA:353277
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Cryptorchidism, Pineal cyst, Dysplastic corpus callosum, Thick corpus callosum OMIM:300967
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Cryptorchidism, Hypoplasia of the corpus callosum, Bilateral cryptorchidism, Anterior pituitary h... ORPHA:466791

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.

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MGI Allele Allele Type Produced
Arhgap5tm417243(Ifitm2_intron_L1L2_GT0_LF2A_LacZ_BetactP_neo) Targeting vectors
Arhgap5tm417243(Ifitm2_intron_L1L2_Bact_P) Targeting vectors
Arhgap5tm435883(Ifitm2_intron_L1L2_GT1_LF2A_LacZ_BetactP_neo) Targeting vectors

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