banner
Genes Phenotypes Help, News, Blog

Gene: Arhgap5 MGI:1332637

Log in to follow
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
Hydrocephalus, Subcortical band heterotopia, Lateral ventricle dilatation, Polymicrogyria, Agenes... OMIM:600348
Polymicrogyria Due To Tubb2B Mutation
Schizencephaly, Microcephaly, Cortical dysplasia, Dysgenesis of the basal ganglia, Perisylvian po... ORPHA:300573
Pontocerebellar Hypoplasia, Type 12
Death in infancy, Cerebral atrophy, Lateral ventricle dilatation, Primary microcephaly, Joint con... OMIM:618266
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Death in infancy, Microcephaly, Simplified gyral pattern, Periventricular cysts, Respiratory insu... OMIM:617668
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Hypoplasia of... OMIM:604213
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Mild malformation of cortical development, Dysplastic corpus callosum, Fine hair, Abnormal cerebr... ORPHA:500166
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Camptodactyly of finger, Dysgenesis of the basal ganglia, Hypoplastic anterior commissure, Wrist ... OMIM:600638
Schizencephaly
Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy OMIM:269160
Unilateral Hemispheric Polymicrogyria
Cerebral hypoplasia, Thick cerebral cortex, Cortical dysplasia, Lateral ventricle dilatation ORPHA:101071
Lissencephaly 4
Simplified gyral pattern, Colpocephaly, Lissencephaly, Primary microcephaly, Agenesis of corpus c... OMIM:614019
Leukoencephalopathy With Vanishing White Matter 5
Abnormal cerebral white matter morphology, Lateral ventricle dilatation, Dilated third ventricle,... OMIM:620315
Hypotonia, Infantile, With Psychomotor Retardation
Respiratory insufficiency due to muscle weakness, Cryptorchidism, Lateral ventricle dilatation, H... OMIM:616816
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Abnormality of the anterior commissure, Hydrocephalus, Agenesis of corpus callosum OMIM:617542
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress, Primary microcephaly, Polymicrogyria, Agenesis of corpus callosum, Ventricu... ORPHA:171703
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventriculomegaly, Neonatal respiratory distress, Microcephaly, Partial agenesis of the corpus cal... ORPHA:79243
Intellectual Developmental Disorder, X-Linked 103
Bilateral cryptorchidism, Lateral ventricle dilatation, Polymicrogyria OMIM:300982
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Microcephaly, Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Death in chi... OMIM:619517
Martsolf Syndrome 2
Camptodactyly of finger, Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus cal... OMIM:619420
Pontocerebellar Hypoplasia, Type 1A
Neuronal loss in basal ganglia, Microcephaly, Respiratory insufficiency, Lateral ventricle dilata... OMIM:607596
Leukoencephalopathy, Progressive, With Ovarian Failure
Progressive leukoencephalopathy, Periventricular leukomalacia, Leukoencephalopathy, Lateral ventr... OMIM:615889
Alg2-Cdg
Abnormal basal ganglia MRI signal intensity, Microcephaly, Lateral ventricle dilatation, Hypoplas... ORPHA:79326
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Hemiparkinsonism-Hemiatrophy Syndrome
Neonatal asphyxia, Lateral ventricle dilatation, Cerebral cortical hemiatrophy ORPHA:306669
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Reduced cerebral white matter volume, Dysplastic corpus callosum, Synophrys, Leukoencephalopathy,... 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
Broad eyebrow, Highly arched eyebrow, Microcephaly, Corpus callosum atrophy, Cryptorchidism, Low ... OMIM:619244
Glutamine Deficiency, Congenital
Neonatal respiratory distress, Apnea, Flexion contracture, Subependymal cysts, Lateral ventricle ... OMIM:610015
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
Microcephaly, Low anterior hairline, Lateral ventricle dilatation, Agenesis of corpus callosum, D... OMIM:618736
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Abnormal cerebral white matter morphology, Lateral ventricle dilatation... OMIM:613443
Microphthalmia-Brain Atrophy Syndrome
Corpus callosum atrophy, Diffuse cerebral atrophy, Lateral ventricle dilatation, Microcephaly ORPHA:77299
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Limb joint contracture, Ankle flexion contracture, Simplified gyral pattern, Knee flexion contrac... ORPHA:284417
Joubert Syndrome 3
Central apnea, Frontal polymicrogyria, Enlarged fossa interpeduncularis, Episodic tachypnea, High... OMIM:608629
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of corpus callosum ORPHA:250972
Craniosynostosis 6
Microcephaly, Low anterior hairline, Lateral ventricle dilatation, Agenesis of corpus callosum, D... OMIM:616602
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Caudate atrophy, Basal ganglia calcification, Leukoencephalopathy, Cerebral atrophy, Lateral vent... OMIM:221770
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly OMIM:618890
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Multiple joint contractures, Respiratory insufficiency due to muscle weakness, Per... OMIM:618291
Familial Supernumerary Nipples
Supernumerary nipple ORPHA:2456
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Highly arched eyebrow, Microcephaly, Synophrys, Recurrent pneumonia, La... OMIM:617751
D-2-Hydroxyglutaric Aciduria 1
Apnea, Multifocal cerebral white matter abnormalities, Subependymal cysts, Lateral ventricle dila... OMIM:600721
Pontocerebellar Hypoplasia, Type 13
Microcephaly, Asthma, Low posterior hairline, Lateral ventricle dilatation, Long eyelashes, Hypop... OMIM:618606
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Abnormality of the anterior commissure, Pachygyria, Thin corpus callosum ORPHA:572013
Holoprosencephaly 5
Synophrys, Lateral ventricle dilatation, Hydrocephalus, Microcephaly OMIM:609637
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Respiratory insufficiency due to muscle weakness, Dysplastic corpus callosum, Microcephaly OMIM:618276
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Primary microcephaly OMIM:618010
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Partial agenesis of the corpus callosum, Simplified gyral pattern, Large basal ganglia, Abnormal ... ORPHA:300570
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Curly hair, Reduced cerebral white matter volume, Sparse eyebrow, Hyposegmentation of neutrophil ... OMIM:620075
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Colpocephaly, Pachygyria OMIM:614870
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Cerebral white matter atrophy, Flexion contracture, Abnormal caudate nucleus morphology, Lateral ... ORPHA:2148
X-Linked Intellectual Disability, Wilson Type
Inguinal hernia, Microcephaly, Abnormal position of hair whorl, Hydrocele testis, Lateral ventric... ORPHA:85290
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Multifocal hyperintensity of cerebral white matter on MRI, Ventriculomegaly, Dysplastic corpus ca... ORPHA:488627
Combined Oxidative Phosphorylation Defect Type 39
Microcephaly, Corpus callosum atrophy, Cryptorchidism, Deep white matter hypodensities, Cerebral ... ORPHA:565624
Lissencephaly Due To Tuba1A Mutation
Dilated fourth ventricle, Agyria, Microcephaly, Hypoplastic anterior limbs of the internal capsul... ORPHA:171680
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Lateral ventricle dilatation, Thin corpus callosum, Microcephaly OMIM:615716
Pseudo-Torch Syndrome 2
Ventriculomegaly, Cerebral calcification, Acute respiratory distress syndrome, Microcephaly, Resp... OMIM:617397
X-Linked Parkinsonism-Spasticity Syndrome
Diffuse cerebral atrophy, Dilated third ventricle, Lateral ventricle dilatation ORPHA:363654
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Absent eyebrow, Alopecia, Inguinal hernia, Sparse eyelashes, Sparse scalp hair, Bilateral cryptor... ORPHA:544488
Adams-Oliver Syndrome 2
Alopecia, Microcephaly, Hydrocephalus, Low anterior hairline, Cerebral atrophy, Lateral ventricle... OMIM:614219
Bilateral Generalized Polymicrogyria
Lateral ventricle dilatation, Diffuse white matter abnormalities, Hypoplasia of the corpus callos... ORPHA:208447
Lissencephaly 9 With Complex Brainstem Malformation
Microcephaly, Hypoplastic anterior commissure, Lissencephaly, Hypoplasia of the corpus callosum, ... OMIM:618325
Cach Syndrome
Microcephaly, Flexion contracture, Cerebral atrophy, Hepatosplenomegaly, Lateral ventricle dilata... ORPHA:135
Stxbp1-Related Encephalopathy
Dysplastic corpus callosum, Cerebral white matter atrophy ORPHA:599373
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Sparse hair, Thin ... OMIM:614105
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation, Elevated hemoglobin A1c, Microcephaly OMIM:619278
Global Developmental Delay With Or Without Impaired Intellectual Development
Lateral ventricle dilatation OMIM:618330
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Microcephaly, Contractures of the large joints, Lateral ventricle dilat... ORPHA:3078
Joubert Syndrome 23
Dysplastic corpus callosum, Tachypnea, Apnea OMIM:616490
Slc35A2-Cdg
Cerebral white matter atrophy, Limb joint contracture, Camptodactyly of finger, Microcephaly, Cor... ORPHA:356961
Congenital Hydrocephalus
Abnormal cortical gyration, Hydrocephalus, Small cerebral cortex, Colpocephaly, Lissencephaly, Ve... ORPHA:2185
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Microcephaly, Cryptorchidism, Cerebral atrophy, Death in childhood, Lateral ventricle dilatation,... OMIM:619847
Malan Overgrowth Syndrome
Lateral ventricle dilatation, Ventriculomegaly, Hypoplasia of the corpus callosum, Low posterior ... ORPHA:420179
Chromosome 6Q24-Q25 Deletion Syndrome
Medial flaring of the eyebrow, Probst bundles, Respiratory distress, Sparse eyelashes, Hydrocepha... OMIM:612863
Intellectual Developmental Disorder, Autosomal Dominant 56
Lateral ventricle dilatation, Secondary microcephaly, Thin corpus callosum OMIM:617854
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Partial agenesis of the corpus callosum, Dilated third ventricle, Cerebral atrophy, Lateral ventr... OMIM:617296
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Inguinal hernia, Lateral ventricle dilatation, Joint contracture of the 4th finger, Joint contrac... OMIM:618914
Giant Axonal Neuropathy 1, Autosomal Recessive
Curly hair, Lateral ventricle dilatation OMIM:256850
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Schizencephaly, Reduced cerebral white matter volume, Hydrocephalus, Synophrys, Cerebral atrophy,... OMIM:620156
Ventriculomegaly With Defects Of The Radius And Kidney
Lateral ventricle dilatation, Hydrocephalus, Ventriculomegaly OMIM:602200
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology, Hypoplasia of the corpus callosum ORPHA:488635
Dworschak-Punetha Neurodevelopmental Syndrome
Microcephaly, Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Sparse later... OMIM:619955
Cog5-Cdg
Diffuse cerebral atrophy, Cerebral white matter atrophy, Camptodactyly of finger, Microcephaly, C... ORPHA:263487
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Ventriculomegaly, Chronic lung disease, Apnea, Absent septum pellucidum, Supernumerary nipple, Ta... ORPHA:397715
Basel-Vanagaite-Smirin-Yosef Syndrome
Sparse scalp hair, Inguinal hernia, Cholelithiasis, Microcephaly, Sparse eyebrow, Recurrent pneum... ORPHA:464738
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Highly arched eyebrow, Dysplastic corpus callosum, Cerebral atrophy, Respiratory insufficiency, H... OMIM:616900
Paganini-Miozzo Syndrome
Lateral ventricle dilatation OMIM:301025
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Type II lissencephaly, Hydrocephalus, Flexion contracture, Lateral ventricle di... OMIM:613154
Wars2-Related Combined Oxidative Phosphorylation Defect
Dilated fourth ventricle, Ventriculomegaly, Leukoencephalopathy, Cerebral atrophy, Lateral ventri... ORPHA:572798
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly, Hypoplasia of the corpus callosum ORPHA:401815
2,4-Dienoyl-Coa Reductase Deficiency
Death in infancy, Microcephaly, Hydrocephalus, Cerebral atrophy, Colpocephaly, Hypoplasia of the ... OMIM:616034
Central Neurocytoma
Abnormal lateral ventricle morphology, Cerebral calcification, Hydrocephalus ORPHA:73256
Linear Skin Defects With Multiple Congenital Anomalies 3
Lateral ventricle dilatation, Agenesis of corpus callosum, Thyroid C cell hyperplasia OMIM:300952
Bainbridge-Ropers Syndrome
Death in infancy, Thick eyebrow, Supernumerary nipple, Microcephaly, Highly arched eyebrow, Crypt... OMIM:615485
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Supernumerary nipple, Abnormal cerebral white matter morphology, Lateral ventricle dilatation, Co... ORPHA:457279
Congenital Disorder Of Glycosylation, Type Iig
Microcephaly, Cryptorchidism, Thrombocytopenia, Giant platelets, Cerebral atrophy, Anemia, Latera... OMIM:611209
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microcephaly, Dysplastic corpus callosum, Flexion contracture, Lissencephaly, Polymicrogyria, Age... OMIM:614833
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Neurofibrillary tangles, Lateral ventricle dilatation, Lewy bodies, Cerebral cortical atrophy OMIM:607485
Mucolipidosis Iv
Dysplastic corpus callosum, Cerebral dysmyelination, Microcephaly OMIM:252650
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Anisocytosis, Microcephaly, Dysplastic corpus callosum, Flexion contracture, Death in childhood, ... OMIM:604273
Aicardi Syndrome
Microcephaly, Dilated third ventricle, Hiatus hernia, Partial agenesis of the corpus callosum, Re... OMIM:304050
Mitochondrial Complex I Deficiency, Nuclear Type 39
Dysplastic corpus callosum, Anemia, Cryptorchidism OMIM:620135
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Cerebral calcification, Microcephaly, Basal ganglia calcification, Diffuse leuk... OMIM:619487
Keppen-Lubinsky Syndrome
Lack of facial subcutaneous fat, Microcephaly, Flexion contracture, Absence of subcutaneous fat, ... OMIM:614098
Osteopetrosis, Autosomal Recessive 7
Death in infancy, Splenomegaly, Hydrocephalus, Recurrent pneumonia, Lateral ventricle dilatation,... OMIM:612301
Autosomal Recessive Spastic Paraplegia Type 11
Abnormal substantia nigra morphology, Lateral ventricle dilatation, Hypoplasia of the corpus call... ORPHA:2822
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Choroid plexus cyst, Abnormal caudate nucleus morphology, Lateral ventricle dilatation, Primary m... ORPHA:293725
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Neonatal respiratory distress, Flexion contracture, Lateral ventricle dilatation, Small pituitary... OMIM:619479
Den Hoed-De Boer-Voisin Syndrome
Thick eyebrow, Microcephaly, Widow's peak, Death in adolescence, Lateral ventricle dilatation, Se... OMIM:619229
Mosaic Trisomy 1
Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia, Elbow flexion contracture,... ORPHA:1692
Pontocerebellar Hypoplasia Type 2
Ventriculomegaly, Apnea, Abnormal cortical gyration, Dysplastic corpus callosum, Hypoplasia of th... ORPHA:2524
Noonan Syndrome 14
Curly hair, Sparse eyebrow, Cryptorchidism, Low posterior hairline, Lateral ventricle dilatation,... OMIM:619745
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Partial agenesis of the corpus callosum, Flexion contracture, Microlissencephaly, Knee flexion co... OMIM:210710
Weaver Syndrome
Inguinal hernia, Absent septum pellucidum, Cryptorchidism, Fine hair, Hydrocele testis, Lateral v... OMIM:277590
Halperin-Birk Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Flexion contracture, Aspiration, Colpocephaly, ... OMIM:618651
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lateral ventricle dilatation OMIM:619995
Combined Oxidative Phosphorylation Deficiency 53
Death in infancy, Dysplastic corpus callosum, Hypochromic microcytic anemia, Secondary microcepha... OMIM:619423
Even-Plus Syndrome
Highly arched eyebrow, Dysplastic corpus callosum, Synophrys, Sparse hair, Agenesis of corpus cal... OMIM:616854
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Broad eyebrow, Microcephaly, Cryptorchidism, Widow's peak, Hypoplastic anterior commissure, Hypop... OMIM:616975
Distal Deletion 10Q
Cavum septum pellucidum, Lateral ventricle dilatation, Widow's peak, Microcephaly ORPHA:96148
Glutaric Acidemia I
Lateral ventricle dilatation, Hydrocephalus OMIM:231670
Weiss-Kruszka Syndrome
Highly arched eyebrow, Colpocephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callos... OMIM:618619
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hip contracture, Death in infancy, Absent septum pellucidum, Microcephaly, Flexion contracture, E... OMIM:300868
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Microcephaly, Dysplastic corpus callosum, Flexion contracture, Simplified gyral pattern, Sparse hair OMIM:620001
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Brittle hair, Sparse eyebrow, Dysplastic corpus callosum, Hydrocele testis, Neonatal death OMIM:618810
Gabriele-De Vries Syndrome
Sparse eyebrow, Cryptorchidism, Cortical dysplasia, Lateral ventricle dilatation, Distal arthrogr... OMIM:617557
Developmental And Epileptic Encephalopathy 31B
Reduced cerebral white matter volume, Colpocephaly, Secondary microcephaly, Agenesis of corpus ca... OMIM:620352
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Microcephaly, Hydrocephalus, Simplified gyral pattern, Colpocephaly,... OMIM:615219
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly, Polymicrogyria, Microcephaly OMIM:618731
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Medial flaring of the eyebrow, Thick eyebrow, Microcephaly, Hydrocephalus, Colpocephaly, Distal a... OMIM:619833
Microcephaly 26, Primary, Autosomal Dominant
Microcephaly, Dysplastic corpus callosum, Recurrent pneumonia, Prominent eyelashes, Simplified gy... OMIM:619179
Combined Oxidative Phosphorylation Deficiency 54
Dysplastic corpus callosum, Secondary microcephaly, Periventricular white matter hyperintensities OMIM:619737
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Hypopigmentation of hair, Anterior pituitary hypoplasia, Decreased response... ORPHA:177907
Fanconi Anemia, Complementation Group I
Absent septum pellucidum, Decreased response to growth hormone stimulation test, Microcephaly, Co... OMIM:609053
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Medial flaring of the eyebrow, Partial agenesis of the corpus callosum, Synophrys, Colpocephaly, ... OMIM:620113
Autosomal Recessive Cutis Laxa Type 2A
Dilated fourth ventricle, Thick cerebral cortex, Inguinal hernia, Thick hair, Dysplastic corpus c... ORPHA:357058
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Microcephaly, Sparse eyebrow, Lateral ventricle dilatation, Hypoplasia ... OMIM:619869
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Cerebral calcification, Thick eyebrow, Microcephaly, Basal ganglia calcificatio... OMIM:617281
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Microcephaly, Respiratory insufficiency, C... OMIM:617260
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Ventriculomegaly, Curly hair, Sparse eyebrow, Dysplastic corpus callosum, Sim... ORPHA:500150
Oculoskeletodental Syndrome
Dysplastic corpus callosum, Enamel hypoplasia, Focal white matter lesions, Abnormality of the fro... ORPHA:557003
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Lateral ventricle dilatation, Thick eyebrow, Hypoplasia of the corpus callosum, Microcephaly OMIM:618367
Scalp-Ear-Nipple Syndrome
Sparse axillary hair, Sparse pubic hair, Fine hair, Multiple lipomas, Lateral ventricle dilatatio... OMIM:181270
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Lateral ventricle dilatation, Dilated third ventricle, Hydrocephalus OMIM:619575
Spondyloenchondrodysplasia
Abnormal lateral ventricle morphology, Cerebral calcification, Pancytopenia, Decreased response t... ORPHA:1855
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral ventricle dilatation, Pachygyria, Pancreatic fibrosis OMIM:263520
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Focal polymicrogyria, Microcephaly, Cryptorchidism, Dysplastic corpus callosum, Partial agenesis ... OMIM:619103
16Q24.3 Microdeletion Syndrome
Ventriculomegaly, Highly arched eyebrow, Abnormal hair pattern, Cryptorchidism, Colpocephaly, Inc... ORPHA:261250
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Pineal cyst, Lateral ventr... OMIM:615873
Chromosome 1P36 Deletion Syndrome, Distal
Camptodactyly of finger, Microcephaly, Pachygyria, Cryptorchidism, Hydrocephalus, Synophrys, Leuk... OMIM:607872
Congenital Disorder Of Glycosylation, Type Iim
Microcephaly, Cerebral atrophy, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, ... OMIM:300896
Cerebrofacioarticular Syndrome
Microcephaly, Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Camptodactyly, Trach... ORPHA:314679
Kapur-Toriello Syndrome
Dysplastic corpus callosum, Pachygyria, Polymicrogyria ORPHA:2328
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Dry hair, Microcephaly, Dysplastic corpus callosum, Low anterior hairline, Hypoplasia of the corp... OMIM:618569
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Broad eyebrow, Focal hypointensity of cerebral white matter on MRI, Highly arched eyebrow, Asplen... ORPHA:261552
Combined Oxidative Phosphorylation Deficiency 12
Dysplastic corpus callosum, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Leuko... OMIM:614924
Peroxisome Biogenesis Disorder 5A (Zellweger)
Death in infancy, Cryptorchidism, Splenomegaly, Macrogyria, Hepatosplenomegaly, Death in adolesce... OMIM:614866
Kabuki Syndrome 1
Hemolytic anemia, Highly arched eyebrow, Autoimmune thrombocytopenia, Microcephaly, Cryptorchidis... OMIM:147920
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Dysplastic corpus callosum, High anterior hairline, Ventriculomegaly, Camptodactyly ORPHA:363444
Choreoacanthocytosis
Caudate atrophy, Acanthocytosis, Abnormal putamen morphology, Splenomegaly, Abnormal erythrocyte ... ORPHA:2388
Linear Skin Defects With Multiple Congenital Anomalies 1
Absent septum pellucidum, Congenital diaphragmatic hernia, Microcephaly, Hydrocephalus, Colpoceph... OMIM:309801
Biliary, Renal, Neurologic, And Skeletal Syndrome
Inguinal hernia, Anterior pituitary hypoplasia, Aqueductal stenosis, Splenomegaly, Hydrocephalus,... OMIM:619534
Genitourinary And/Or Brain Malformation Syndrome
Omphalocele, Streak ovary, Absent septum pellucidum, Dysplastic corpus callosum, Cryptorchidism, ... OMIM:618820
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Sparse scalp hair, Supernumerary nipple, Sparse eyebrow, Cryptorchidism, Synophrys, Colpocephaly,... ORPHA:477993
Khan-Khan-Katsanis Syndrome
Ventriculomegaly, Highly arched eyebrow, Microcephaly, Trichiasis, Corneal scarring, Colpocephaly... OMIM:618460
Lenz-Majewski Hyperostotic Dwarfism
Inguinal hernia, Anterior pituitary hypoplasia, Microcephaly, Dysplastic corpus callosum, Cryptor... OMIM:151050
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Broad eyebrow, Focal hypointensity of cerebral white matter on MRI, Asplenia, Cryptorchidism, Fle... ORPHA:261537
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Agenesis of corpus callosum, Colpocephaly, Microcephaly OMIM:301043
6Q Terminal Deletion Syndrome
Highly arched eyebrow, Low anterior hairline, Abnormal cerebral white matter morphology, Colpocep... ORPHA:75857
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Cryptorchidism, Colpocephaly, Highly arched eyebrow, Microcephaly OMIM:620083
Zttk Syndrome
Absent gallbladder, Curly hair, Broad eyebrow, Sparse eyebrow, Dysplastic corpus callosum, Flexio... OMIM:617140
Smith-Lemli-Opitz Syndrome
Death in infancy, Diffuse cerebral atrophy, Microcephaly, Cryptorchidism, Partial agenesis of the... OMIM:270400
White-Kernohan Syndrome
Dysplastic corpus callosum, Synophrys, Broad medial eyebrow, Long eyelashes, Horizontal eyebrow, ... OMIM:619426
Genitopatellar Syndrome
Hip contracture, Sparse scalp hair, Microcephaly, Cryptorchidism, Knee flexion contracture, Colpo... OMIM:606170
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal lateral ventricle morphology, Pneumonia, Highly arched eyebrow, Trichiasis, Cryptorchidi... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal lateral ventricle morphology, Pneumonia, Highly arched eyebrow, Trichiasis, Cryptorchidi... ORPHA:353277
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Cryptorchidism, Dysplastic corpus callosum, Thick corpus callosum, Pineal cyst OMIM:300967
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Anterior pituitary hypoplasia, Supernumerary nipple, Bilateral cryptorchidism, Dysplastic corpus ... ORPHA:466791
Witteveen-Kolk Syndrome
Medial flaring of the eyebrow, Inguinal hernia, Unilateral cryptorchidism, Decreased response to ... 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

The IMPC Newsletter

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

Subscribe to newsletter