Gene Summary

Name:
Rho GTPase activating protein 10
Synonyms:
PSGAP-s,  PSGAP-m,  A930033B01Rik

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
enlarged lymph nodes Arhgap10em1(IMPC)Tcp HOM Early adult 0.00
abnormal sternum morphology Arhgap10em1(IMPC)Tcp HOM Early adult 0.00
abnormal bone structure Arhgap10em1(IMPC)Tcp HOM Early adult 8.27×10-07
increased mean platelet volume Arhgap10em1(IMPC)Tcp HOM Early adult 5.20×10-18
decreased body length Arhgap10em1(IMPC)Tcp HOM Early adult 5.88×10-06
preweaning lethality, incomplete penetrance Arhgap10em1(IMPC)Tcp HOM Early adult 0.00
abnormal skin morphology Arhgap10em1(IMPC)Tcp HOM Early adult 0.00
abnormal ovary morphology Arhgap10em1(IMPC)Tcp HOM Early adult 0.00

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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.

Eye Morphology

Images Ophthalmoscopy

98 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

11 Images

Eye Morphology

Images Slit Lamp

81 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Histopathology

Images

4 Images

Human diseases caused by Arhgap10 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 Arhgap10 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spastic Paraplegia 34, X-Linked
Babinski sign, Clonus, Paraplegia, Spastic gait, Impaired vibratory sensation, Spastic paraplegia OMIM:300750
Neuropathy, Hereditary Sensory, Atypical
Babinski sign, Ataxia, Sensory ataxia OMIM:256860
Posterior Column Ataxia
Impaired proprioception, Ataxia, Impaired vibratory sensation OMIM:176250
Spinocerebellar Ataxia, X-Linked 2
Ataxia, Abnormality of extrapyramidal motor function OMIM:302600
Spinocerebellar Ataxia Type 4
Impaired proprioception, Gait disturbance, Ataxia, Impaired vibratory sensation, Impaired tactile... ORPHA:98765
Ataxia-Oculomotor Apraxia Type 1
Ataxia, Gait disturbance ORPHA:1168
Spastic Ataxia With Congenital Miosis
Ataxia, Spastic ataxia, Hemiplegia/hemiparesis ORPHA:1182
Episodic Ataxia Type 5
Ataxia, Truncal ataxia ORPHA:211067
Neuhauser-Eichner-Opitz Syndrome
Ataxia, Hypertonia, Spasticity, Rigidity ORPHA:2672
Tapetoretinal Degeneration With Ataxia
Ataxia OMIM:272600
Atonic-Astatic Syndrome Of Foerster
Ataxia, Abasia, Inability to walk OMIM:209100
Spastic Ataxia 4, Autosomal Recessive
Babinski sign, Spastic paraparesis, Spastic ataxia OMIM:613672
Ataxia-Deafness-Retardation Syndrome
Ataxia OMIM:208850
Autosomal Recessive Spastic Paraplegia Type 43
Babinski sign, Spastic gait, Impaired vibratory sensation, Poor fine motor coordination, Difficul... ORPHA:320370
Spastic Paraparesis-Deafness Syndrome
Gait disturbance, Impaired pain sensation, Ataxia, Spastic paraparesis, Hemiplegia/hemiparesis ORPHA:2815
Spinocerebellar Ataxia 40
Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unsteady gait, Spastic parapar... OMIM:616053
Spinocerebellar Ataxia Type 23
Impaired proprioception, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Impaired distal... ORPHA:101108
Spinocerebellar Ataxia Type 40
Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unsteady gait, Gait ataxia, Sp... ORPHA:423275
Spastic Paraplegia, Epilepsy, And Mental Retardation
Spastic paraplegia, Spastic paraparesis OMIM:182610
Alpers-Huttenlocher Syndrome
Progressive spasticity, Choreoathetosis, Myoclonus, Paraparesis, Ataxia, Spasticity, Spastic para... ORPHA:726
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Autosomal Spastic Paraplegia Type 30
Babinski sign, Scissor gait, Spastic gait, Lower limb spasticity, Distal sensory impairment, Atax... ORPHA:101010
Myelopathy, Htlv-1-Associated
Abnormal pyramidal sign, Spastic paraparesis OMIM:159580
Paraparetic Variant Of Guillain-Barré Syndrome
Impaired distal proprioception, Paraparesis ORPHA:231445
Spinal Arachnoiditis
Spastic paraparesis OMIM:182950
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Impaired social interactions OMIM:618830
3-Methylglutaconic Aciduria Type 3
Ataxia, Gait disturbance, Spastic paraparesis, Choreoathetosis ORPHA:67047
Mast Syndrome
Babinski sign, Gait disturbance, Apraxia, Spastic paraplegia, Spastic paraparesis OMIM:248900
Asperger Syndrome, X-Linked, Susceptibility To, 2
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:608631
X-Linked Charcot-Marie-Tooth Disease Type 5
Gait disturbance, Impaired pain sensation, Paraparesis, Tremor, Ataxia ORPHA:99014
Intellectual Developmental Disorder, Autosomal Recessive 66
Attention deficit hyperactivity disorder, Gait ataxia, Shyness OMIM:618221
Myoclonus, Familial, 1
Ataxia, Myoclonus, Falls, Frequent falls OMIM:614937
Ataxia With Fasciculations
Ataxia, Fasciculations OMIM:108700
Spinocerebellar Ataxia 45
Ataxia, Limb ataxia, Gait ataxia OMIM:617769
Episodic Ataxia, Type 8
Ataxia, Episodic ataxia, Slurred speech, Intention tremor OMIM:616055
Bleeding Disorder, Platelet-Type, 24
Impaired epinephrine-induced platelet aggregation, Increased mean platelet volume, Impaired arach... OMIM:619271
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Steppage gait, Distal sensory impairment, Paraparesis OMIM:302802
Intellectual Developmental Disorder, Autosomal Dominant 56
Ataxia, Attention deficit hyperactivity disorder, Spasticity, Paraparesis OMIM:617854
Bleeding Disorder, Platelet-Type, 16
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired... OMIM:187800
Kufor-Rakeb Syndrome
Babinski sign, Gait disturbance, Dystonia, Rigidity, Torticollis, Myoclonus, Bradykinesia, Parapa... OMIM:606693
Hereditary Geniospasm
Abnormal social behavior, Chin myoclonus ORPHA:53372
Spinocerebellar Ataxia 41
Unsteady gait, Ataxia OMIM:616410
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Babinski sign, Gait disturbance, Frequent falls, Dysmetria, Hand tremor, Paraparesis, Tremor, Dis... OMIM:302800
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Babinski sign, Frequent falls, Myoclonus, Progressive gait ataxia, Upper limb hypertonia, Progres... ORPHA:254343
Spinocerebellar Ataxia Type 15/16
Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Spinocerebellar Ataxia 20
Postural tremor, Action tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal myoclonus OMIM:608687
Spinocerebellar Ataxia 29
Dysmetria, Intention tremor, Impaired tandem gait, Dysdiadochokinesis, Nonprogressive cerebellar ... OMIM:117360
Frontotemporal Dementia With Motor Neuron Disease
Babinski sign, Weakness due to upper motor neuron dysfunction, Abnormality of extrapyramidal moto... ORPHA:275872
Cerebral Creatine Deficiency Syndrome 2
Ataxia, Hypertonia, Myoclonus, Progressive extrapyramidal movement disorder OMIM:612736
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Impaired social interactions, Stereotypy OMIM:606053
Spinocerebellar Ataxia, Autosomal Recessive 22
Dysmetria, Lower limb spasticity, Intention tremor, Ataxia, Truncal ataxia, Unsteady gait, Abnorm... OMIM:616948
Autosomal Dominant Spastic Paraplegia Type 73
Babinski sign, Spastic gait, Lower limb spasticity, Progressive spastic paraparesis, Impaired vib... ORPHA:444099
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Macrothrombocytopenia, Giant platelets OMIM:600208
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Babinski sign, Dystonia, Opisthotonus, Rigidity, Frequent falls, Chorea, Truncal titubation, Cogw... OMIM:607483
Spinocerebellar Ataxia Type 35
Babinski sign, Pseudobulbar paralysis, Torticollis, Dysmetria, Intention tremor, Progressive cere... ORPHA:276193
Lichtenstein-Knorr Syndrome
Dysmetria, Ataxia, Dysdiadochokinesis, Action tremor, Limb ataxia, Gait ataxia OMIM:616291
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Autosomal Recessive Spastic Paraplegia Type 25
Spastic paraplegia, Paraparesis ORPHA:101005
Sebastian syndrome
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:605249
Spinocerebellar Ataxia 35
Babinski sign, Torticollis, Dysmetria, Intention tremor, Ataxia, Incoordination, Difficulty walking OMIM:613908
Spastic Paraplegia 2, X-Linked
Babinski sign, Dysmetria, Spastic gait, Lower limb spasticity, Spastic paraplegia, Spastic parapa... OMIM:312920
Spastic Paraplegia 10, Autosomal Dominant
Babinski sign, Knee clonus, Spastic gait, Lower limb spasticity, Impaired vibration sensation in ... OMIM:604187
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus OMIM:159800
Autosomal Dominant Cerebellar Ataxia
Impaired proprioception, Torticollis, Fasciculations, Paraparesis, Akinesia, Tongue fasciculation... ORPHA:99
Neurodegeneration With Brain Iron Accumulation 8
Dysmetria, Loss of ability to walk, Ataxia, Tremor, Unsteady gait OMIM:617917
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, Hyperactivity ORPHA:436151
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Extrapyramidal dyskinesia, Paraparesis, Apraxia, Tetraparesis, Parkinsonism OMIM:105550
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Spastic Paraplegia 30, Autosomal Dominant
Babinski sign, Dysmetria, Spastic gait, Lower limb spasticity, Ataxia, Ankle clonus, Spastic para... OMIM:610357
Primary Angiitis Of The Central Nervous System
Paralysis, Hemiparesis, Paraparesis, Ataxia, Tetraparesis, Parkinsonism ORPHA:140989
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Progressive spastic paraparesis, Spastic tetraparesis, Spastic ataxia ORPHA:496756
Spinocerebellar Ataxia, Autosomal Recessive 25
Dysmetria, Ataxia, Truncal ataxia OMIM:617584
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movements OMIM:618425
Adrenoleukodystrophy
Impaired vibration sensation at ankles, Paraparesis, Attention deficit hyperactivity disorder, Sl... OMIM:300100
Autosomal Dominant Striatal Neurodegeneration
Gait disturbance, Dysdiadochokinesis, Bradykinesia, Rigidity ORPHA:228169
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:155100
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Dystonia, Paresthesia, Choreoathetosis, Paroxysmal dyskinesia, Episodic ataxia, Spastic paraplegi... ORPHA:53583
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Dysmetria, Chorea, Poor eye contact, Ataxia, Inability to walk, Gait ataxia OMIM:618501
Neurodegeneration With Brain Iron Accumulation 6
Gait disturbance, Dystonia, Rigidity, Oromandibular dystonia, Bradykinesia, Spastic tetraplegia, ... OMIM:615643
X-Linked Adrenoleukodystrophy
Clumsiness, Paralysis, Gait disturbance, Paraparesis, Progressive spastic paraparesis, Hemiparesi... ORPHA:43
Vitamin B12-Unresponsive Methylmalonic Acidemia
Choreoathetosis, Paraparesis, Ataxia, Tetraparesis, Lethargy ORPHA:27
Spastic Paraplegia, Ataxia, And Mental Retardation
Babinski sign, Dystonia, Knee clonus, Spastic gait, Lower limb spasticity, Impaired vibration sen... OMIM:607565
Hsd10 Disease
Gait disturbance, Rigidity, Choreoathetosis, Myoclonus, Tremor, Ataxia, Abnormal social behavior,... ORPHA:391417
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Babinski sign, Dystonia, Dysmetria, Lower limb spasticity, Spastic tetraparesis, Ataxia, Difficul... OMIM:612319
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Progressive spasticity, Babinski sign, Progressive spastic paraparesis, Ankle clonus, Upper motor... ORPHA:506353
Myh9-Related Disease
Neutrophil inclusion bodies, Increased mean platelet volume, Giant platelets, Congenital thromboc... ORPHA:182050
Paroxysmal Exertion-Induced Dyskinesia
Involuntary movements, Dystonia, Paresthesia, Choreoathetosis, Chorea, Paroxysmal dyskinesia, Low... ORPHA:98811
Spastic Ataxia 5, Autosomal Recessive
Dystonia, Dysmetria, Myoclonus, Spastic ataxia, Oculomotor apraxia, Ataxia, Dysdiadochokinesis, S... OMIM:614487
Pelger-Huet Anomaly
Upper limb undergrowth, Short 3rd metacarpal, Neutropenia, Short 5th metacarpal, Polydactyly, Hyp... OMIM:169400
Spinocerebellar Ataxia, Autosomal Recessive 26
Dysmetria, Positive Romberg sign, Distal sensory impairment, Oculomotor apraxia, Ataxia, Dysdiado... OMIM:617633
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Head titubation, Frequent falls, Dysmetria, Fasciculations, Spastic ataxia, Tremor... OMIM:611302
Fechtner syndrome
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:153640
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Postural tremor, Babinski sign, Clumsiness, Dysmetria, Progressive gait ataxia, Oculomotor apraxi... ORPHA:284324
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Rigidity, Bradykinesia, Fasciculations, Ataxia, Spasticity OMIM:183050
Spinocerebellar Ataxia Type 12
Postural tremor, Parkinsonism, Gait disturbance, Tremor by anatomical site, Bradykinesia, Intenti... ORPHA:98762
Spinocerebellar Ataxia, Autosomal Recessive 7
Postural tremor, Babinski sign, Clumsiness, Ataxia, Impaired vibratory sensation, Limb ataxia, Ga... OMIM:609270
Spastic Paraplegia 20, Autosomal Recessive
Babinski sign, Knee clonus, Upper limb spasticity, Dysmetria, Spastic gait, Lower limb spasticity... OMIM:275900
Bernard-Soulier Syndrome
Thrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet aggregation OMIM:231200
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia
Spastic paraparesis, Truncal ataxia, Palatal myoclonus OMIM:113610
Slc35A1-Cdg
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia ORPHA:238459
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Babinski sign, Dystonia, Dysmetria, Bradykinesia, Tremor, Ataxia, Dysdiadochokinesis, Incoordinat... OMIM:615157
X-Linked Charcot-Marie-Tooth Disease Type 3
Gait disturbance, Tremor, Inability to walk, Difficulty walking, Spastic paraparesis, Somatic sen... ORPHA:101077
Spinocerebellar Ataxia Type 29
Dysmetria, Delayed social development, Intention tremor, Oculomotor apraxia, Ataxia, Dysdiadochok... ORPHA:208513
Ataxia-Oculomotor Apraxia 4
Tetraplegia, Oculomotor apraxia, Ataxia, Dystonia OMIM:616267
X-Linked Parkinsonism-Spasticity Syndrome
Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Resting tremor, Ankle clonus, Spast... ORPHA:363654
Urocanic Aciduria
Ataxia, Truncal ataxia, Broad-based gait, Action tremor, Gait ataxia ORPHA:210128
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Hemolytic anemia, Increased mean platelet volume, Splenomegaly OMIM:153670
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dystonia, Dysmetria, Myoclonus, Spastic dysarthria, Oculomotor apraxia, Ataxia, Dysdiadochokinesi... ORPHA:313772
Late-Infantile/Juvenile Krabbe Disease
Clumsiness, Gait disturbance, Acroparesthesia, Frequent falls, Loss of ambulation, Lower limb spa... ORPHA:206443
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Rigidity, Abnormality of extrapyramidal motor function, Bradykinesia, Tremor, Parkinson... OMIM:300894
Spinocerebellar Ataxia 44
Frequent falls, Dysmetria, Ataxia, Dysdiadochokinesis, Spasticity, Gait ataxia OMIM:617691
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Babinski sign, Clonus, Dysmetria, Intention tremor, Dysdiadochokinesis, Nonprogressive cerebellar... OMIM:301310
Sitosterolemia 1
Stomatocytosis, Episodic hemolytic anemia, Splenomegaly, Giant platelets, Chronic hemolytic anemi... OMIM:210250
Spinocerebellar Ataxia 4
Progressive cerebellar ataxia, Babinski sign, Distal sensory impairment, Limb dysmetria OMIM:600223
Leukodystrophy, Hypomyelinating, 2
Progressive spasticity, Babinski sign, Dystonia, Head titubation, Rigidity, Choreoathetosis, Inte... OMIM:608804
Spinocerebellar Ataxia, X-Linked 4
Tremor, Ataxia, Abnormal pyramidal sign OMIM:301840
Dystonia 9
Dystonia, Paresthesia, Choreoathetosis, Episodic ataxia, Spastic paraplegia, Abnormal pyramidal sign OMIM:601042
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anisocytosis, Poikilocytosis, Cryptorchidism, Macrothrombocytopenia, Anemia o... ORPHA:67044
Encephalopathy, Recurrent, Of Childhood
Athetosis, Babinski sign, Choreoathetosis, Chorea, Intention tremor, Incoordination, Truncal atax... OMIM:130950
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Adult Krabbe Disease
Clumsiness, Babinski sign, Gait disturbance, Hoffmann sign, Acroparesthesia, Frequent falls, Prog... ORPHA:206448
Spastic Paraplegia 75, Autosomal Recessive
Dysmetria, Babinski sign, Spastic dysarthria, Spastic paraparesis OMIM:616680
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density, Premature ovarian insufficiency ORPHA:75325
Peroxisome Biogenesis Disorder 8B
Dysmetria, Ataxia, Spastic paraparesis, Spasticity OMIM:614877
Takenouchi-Kosaki Syndrome
Hypospadias, Increased mean platelet volume, Tapered finger, Proximal placement of thumb, Camptod... OMIM:616737
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Thrombocytopenia, Lymphocytosis, Lymphadenopathy OMIM:617718
Spinocerebellar Ataxia Type 19/22
Impaired vibration sensation at ankles, Poor coordination, Cogwheel rigidity, Ataxia, Slurred spe... ORPHA:98772
Spinocerebellar Ataxia 34
Fasciculations, Intention tremor, Ataxia, Dysdiadochokinesis, Spasticity, Abnormal pyramidal sign... OMIM:133190
Primary Lateral Sclerosis
Babinski sign, Weakness due to upper motor neuron dysfunction, Spastic gait, Spastic dysarthria, ... ORPHA:35689
Mitochondrial Membrane Protein-Associated Neurodegeneration
Babinski sign, Gait disturbance, Dystonia, Rigidity, Frequent falls, Hand tremor, Shuffling gait,... ORPHA:289560
Spastic Tetraplegia And Axial Hypotonia, Progressive
Babinski sign, Lower limb spasticity, Exaggerated startle response, Fasciculations, Spastic tetra... OMIM:618598
Lathosterolosis
Toe syndactyly, Increased mean platelet volume, Anisopoikilocytosis, Schistocytosis, Acanthocytos... OMIM:607330
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Rigidity, Bradykinesia, Tremor, Parkinsonism, Spastic paraparesis ORPHA:329284
Coasy Protein-Associated Neurodegeneration
Parkinsonism, Oromandibular dystonia, Difficulty walking, Spastic paraparesis ORPHA:397725
Dopa-Responsive Dystonia
Gait disturbance, Dystonia, Arm dystonia, Rigidity, Poor coordination, Abnormality of extrapyrami... ORPHA:255
Arnold-Chiari Malformation Type Ii
Opisthotonus, Paraplegia, Paraparesis, Ataxia, Spasticity, Difficulty walking, Somatic sensory dy... ORPHA:1136
Spastic Paraplegia 39, Autosomal Recessive
Babinski sign, Gait disturbance, Ataxia, Progressive spastic paraplegia OMIM:612020
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Abnormality of the ovary, Decreased testicular size ORPHA:1875
Dentatorubral Pallidoluysian Atrophy
Involuntary movements, Impaired proprioception, Dyssynergia, Choreoathetosis, Dysmetria, Oromandi... ORPHA:101
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Impaired proprioception, Babinski sign, Impaired vibratory sensation, Difficulty walking, Sensory... OMIM:500013
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal dysgenesis with female appearance, male... ORPHA:206484
Spinal Arteriovenous Metameric Syndrome
Paraparesis ORPHA:53721
Autosomal Recessive Spastic Paraplegia Type 11
Progressive spasticity, Gait disturbance, Abnormality of extrapyramidal motor function, Parapares... ORPHA:2822
Early-Onset Autosomal Dominant Alzheimer Disease
Myoclonus, Oculomotor apraxia, Hypertonia, Ataxia, Apraxia, Abnormal social behavior, Parkinsonism ORPHA:1020
Hypermanganesemia With Dystonia 1
Dystonia, Rigidity, Steppage gait, Abnormality of extrapyramidal motor function, Bradykinesia, Tr... OMIM:613280
Acute Transverse Myelitis
Impaired proprioception, Babinski sign, Gait disturbance, Paresthesia, Paraplegia, Abnormality of... ORPHA:139417
Neurofibromatosis, Familial Spinal
Paraparesis OMIM:162210
Paget Disease Of Bone 2, Early-Onset
Tetraparesis, Paraparesis OMIM:602080
Burkitt Lymphoma
Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Abnormality of th... ORPHA:543
Satoyoshi Syndrome
Abnormality of the ovary, Genu varum, Abnormality of femur morphology, Tapered finger, Abnormalit... ORPHA:3130
Gaucher Disease, Type Iii
Ataxia, Myoclonus, Spastic paraparesis OMIM:231000
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Anemia OMIM:616176
Waardenburg Syndrome, Type 4A
Ataxia, Spastic paraparesis OMIM:277580
Arachnoid Cyst
Gait disturbance, Paresthesia, Hemiparesis, Paraparesis, Distal sensory impairment, Inability to ... ORPHA:2356
Tetragametic Chimerism
Gonadal dysgenesis with female appearance, male, Abnormality of the ovary, True hermaphroditism, ... ORPHA:199310
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Increased mean platelet volume, Tapered finger, Abnormality of the lymphatic system,... ORPHA:487796
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Macrothrombocytopenia, Giant platelets, Impaired ristoce... ORPHA:274
Metachromatic Leukodystrophy, Late Infantile Form
Clumsiness, Babinski sign, Dystonia, Frequent falls, Progressive gait ataxia, Decerebrate rigidit... ORPHA:309256
Developmental And Epileptic Encephalopathy 82
Inability to walk, Spastic paraparesis, Spastic tetraplegia OMIM:618721
X-Linked Charcot-Marie-Tooth Disease Type 2
Babinski sign, Gait disturbance, Steppage gait, Hand tremor, Clasp-knife sign, Distal sensory imp... ORPHA:101076
Poliomyelitis
Paralysis, Paresthesia, Fasciculations, Paraparesis, Inability to walk, Hyperkinetic movements ORPHA:2912
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Clonus, Poor coordination, Impaired vibratory sensation, Spasticity, Abnormal pyramidal sign, Spa... OMIM:238970
Leukodystrophy, Hypomyelinating, 3
Abnormal pyramidal sign, Spastic paraparesis OMIM:260600
Syndromic Diarrhea
Thrombocytosis, Increased mean platelet volume, Hypoplasia of the thymus, Splenomegaly, Lymphopenia ORPHA:84064
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Genital ulcers, Absent tonsils, Lymph node hypoplasia OMIM:602450
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Osteosclerosis of the base of the skull, Hypoplasia of the ovary, Premature ovarian insufficiency... OMIM:609993
Lamb-Shaffer Syndrome
Stereotypy, Hyperactivity, Ataxia, Upper motor neuron dysfunction, Abnormal social behavior ORPHA:530983
Cerebrotendinous Xanthomatosis
Babinski sign, Dystonia, Gait disturbance, Abnormality of extrapyramidal motor function, Abnormal... ORPHA:909
Purine Nucleoside Phosphorylase Deficiency
Cerebral palsy, Ataxia, Hypertonia, Hyperactivity, Spasticity, Abnormal central motor function, S... ORPHA:760
Trichohepatoenteric Syndrome 1
Hypospadias, Thrombocytosis, Increased mean platelet volume OMIM:222470
Bilateral Perisylvian Polymicrogyria
Oromotor apraxia, Limb hypertonia, Pseudobulbar paralysis, Dysmetria, Lower limb spasticity, Spas... ORPHA:98889
Fatty Acid Hydroxylase-Associated Neurodegeneration
Progressive extrapyramidal movement disorder, Loss of ambulation, Falls, Progressive gait ataxia,... ORPHA:329308
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
11Q22.2Q22.3 Microdeletion Syndrome
Abnormal social behavior, Attention deficit hyperactivity disorder, Poor eye contact ORPHA:444002
Isolated Succinate-Coq Reductase Deficiency
Babinski sign, Frequent falls, Spastic tetraparesis, Ataxia, Loss of ability to walk, Lower limb ... ORPHA:3208
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Metachromatic Leukodystrophy, Juvenile Form
Clumsiness, Babinski sign, Dystonia, Frequent falls, Progressive gait ataxia, Intention tremor, D... ORPHA:309263
Pelizaeus-Merzbacher Disease In Female Carriers
Babinski sign, Gait disturbance, Lower limb spasticity, Inability to walk, Difficulty walking, Ha... ORPHA:280229
Multiple Carboxylase Deficiency
Ataxia, Spastic paraparesis, Lethargy ORPHA:148
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Paraplegia, Hemiparesis, Paraparesis ORPHA:79124
Oculodentodigital Dysplasia
Ataxia, Spasticity, Tetraparesis, Paraparesis OMIM:164200
Metachromatic Leukodystrophy, Adult Form
Clumsiness, Babinski sign, Dystonia, Frequent falls, Chorea, Progressive gait ataxia, Intention t... ORPHA:309271
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Farber Disease
Myoclonus, Spasticity, Paraparesis ORPHA:333
Congenital Disorder Of Glycosylation, Type Iif
Neutropenia, Decreased platelet glycoprotein Ib, Thrombocytopenia, Macrothrombocytopenia, Clinoda... OMIM:603585
Thrombocytopenia 1
Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia OMIM:313900
Combined Oxidative Phosphorylation Defect Type 7
Impaired tandem gait, Distal sensory impairment, Ataxia, Inability to walk, Difficulty walking, A... ORPHA:254930
Premature Ovarian Failure 5
Reduced antral follicle count, Hypoplasia of the ovary, Streak ovary, Premature ovarian insuffici... OMIM:611548
46,Xx Ovotesticular Disorder Of Sex Development
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... ORPHA:2138
Cataracts, Spastic Paraparesis, And Speech Delay
Spastic paraparesis OMIM:619338
Rift Valley Fever
Paralysis, Decerebrate rigidity, Hemiparesis, Paraparesis ORPHA:319251
Autosomal Recessive Spastic Paraplegia Type 55
Babinski sign, Lower limb spasticity, Distal sensory impairment, Poor fine motor coordination, Sp... ORPHA:320375
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Hyperactivity, Ataxia, Incoordination, Overfriendliness, Spastic paraparesis ORPHA:369891
Igg4-Related Pachymeningitis
Somatic sensory dysfunction, Paraparesis ORPHA:449427
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Dysmetria, Hand tremor, Unsteady gait, Spastic paraparesis ORPHA:3041
Foix-Alajouanine Syndrome
Gait imbalance, Paresthesia, Frequent falls, Progressive spastic paraparesis, Unsteady gait, Dyse... ORPHA:79093
Sternum, Premature Obliteration Of Sutures Of
Short sternum, Cryptorchidism OMIM:184800
Ovarian Fibroma
Abnormality of the ovary, Gonadal calcification, Ovarian fibroma ORPHA:314473
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Gait disturbance, Dystonia, Rigidity, Bradykinesia, Hypertonia, Dysdiadochokinesis, Poor fine mot... ORPHA:309854
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Decreased proportion of naive T cells, Lymph node hypoplasia, Decreased proportio... ORPHA:276
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Iron deficiency anemia, Decreas... OMIM:600903
Diethylstilbestrol Syndrome
Hypospadias, Testicular dysgenesis, Abnormal reproductive system morphology, Abnormality of the u... ORPHA:1916
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Lymph node hypoplasia, Pure red cell aplasi... OMIM:613179
Ovarian Fibrothecoma
Abnormality of the endometrium, Abnormality of the ovary, Gonadal calcification, Ovarian fibroma ORPHA:314478
Autosomal Recessive Spastic Paraplegia Type 20
Babinski sign, Spastic gait, Spastic dysarthria, Speech apraxia, Impaired vibratory sensation, Sl... ORPHA:101000
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Gait disturbance, Lower limb spasticity, Hemiparesis, Ataxia, Upper motor neuron dysfunction, Spa... ORPHA:395
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... OMIM:301000
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior, Hyperactivity ORPHA:101039
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Oligospermia, Hypospadias, Adrenal hyperplasia, Fused labia majora, Elevated circulating follicle... ORPHA:95699
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Abnormal vagina morphology, Brachydactyly, Hypoplasia of the uterus ORPHA:247768
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Abnormality of the urethra, Polycystic ovaries ORPHA:2795
Childhood Absence Epilepsy
Abnormal social behavior, Attention deficit hyperactivity disorder, Limb myoclonus, Punding ORPHA:64280
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Postaxial polydactyly, Hypogonadism, Vaginal atresia, Micropenis, Foot ... OMIM:209900
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Dysmetria, Intention tremor, Ataxia, Nonprogressive cerebellar ataxia, Unsteady gait, Abnormal py... ORPHA:314647
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Spastic paraparesis, Broad-based gait ORPHA:391408
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Niemann-Pick Disease Type C
Clumsiness, Gait disturbance, Dystonia, Axial dystonia, Cataplexy, Frequent falls, Chorea, Myoclo... ORPHA:646
Argininemia
Frequent falls, Spastic gait, Hyperactivity, Progressive spastic quadriplegia, Spastic paraparesis OMIM:207800
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Scheie Syndrome
Cerebral palsy, Spastic paraparesis ORPHA:93474
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Distal sensory impairment, Ataxia, Spastic paraparesis, Spastic tetraplegia OMIM:609136
Agammaglobulinemia, X-Linked
Epididymitis, Prostatitis, Lymph node hypoplasia OMIM:300755
Adrenomyeloneuropathy
Babinski sign, Spastic gait, Progressive spastic paraparesis, Distal sensory impairment, Spastici... ORPHA:139399
Biotinidase Deficiency
Ataxia, Spastic paraparesis, Lethargy ORPHA:79241
Epidermal Nevus Syndrome
Progressive spastic paraparesis, Babinski sign, Hypertonia ORPHA:35125
Eales Disease
Spastic paraparesis ORPHA:40923
Aicardi-Goutières Syndrome
Dystonia, Abnormality of extrapyramidal motor function, Extrapyramidal muscular rigidity, Spastic... ORPHA:51
Oculodentodigital Dysplasia
Ataxia, Gait disturbance, Spastic paraparesis, Spasticity ORPHA:2710
Turner Syndrome Due To Structural X Chromosome Anomalies
Irregular proximal tibial epiphyses, Abnormality of the ovary, Short 5th metacarpal, Abnormal for... ORPHA:99413
Turner Syndrome
Irregular proximal tibial epiphyses, Abnormality of the ovary, Short 5th metacarpal, Abnormal for... ORPHA:881
Mosaic Monosomy X
Irregular proximal tibial epiphyses, Abnormality of the ovary, Short 5th metacarpal, Abnormal for... ORPHA:99228
Monosomy X
Irregular proximal tibial epiphyses, Abnormality of the ovary, Short 5th metacarpal, Abnormal for... ORPHA:99226
Fg Syndrome Type 1
Abnormal social behavior, Attention deficit hyperactivity disorder, Broad-based gait ORPHA:93932
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Spastic paraparesis OMIM:619234
48,Xxxy Syndrome
Tremor, Attention deficit hyperactivity disorder, Abnormal social behavior ORPHA:96263
Craniorachischisis
Bifid sternum ORPHA:63260
Hypoplasminogenemia
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis ORPHA:722
Hurler Syndrome
Cerebral palsy, Abnormal pyramidal sign, Spastic paraparesis ORPHA:93473
Say-Barber-Miller Syndrome
Babinski sign, Lingual dystonia, Ankle clonus, Spastic paraparesis, Lower limb hypertonia ORPHA:3132
Coffin-Lowry Syndrome
Tapered finger, Bifid sternum, Narrow iliac wing, Uterine prolapse, Short metacarpal, Drumstick t... OMIM:303600
Split Cord Malformation
Paraparesis ORPHA:573278
Dihydropyrimidine Dehydrogenase Deficiency
Abnormal social behavior, Inability to walk, Hypertonia ORPHA:1675
Prader-Willi Syndrome Due To Translocation
Abnormal social behavior, Attention deficit hyperactivity disorder, Impaired social interactions,... ORPHA:177907
Mend Syndrome
Abnormal social behavior, Hyperactivity, Limb hypertonia ORPHA:401973
Koolen-De Vries Syndrome Due To A Point Mutation
Overfriendliness, Attention deficit hyperactivity disorder, Abnormal social behavior, Speech apraxia ORPHA:363965
17Q21.31 Microdeletion Syndrome
Overfriendliness, Attention deficit hyperactivity disorder, Abnormal social behavior, Speech apraxia ORPHA:363958
Tuberous Sclerosis Complex
Repetitive compulsive behavior, Hyperactivity, Attention deficit hyperactivity disorder, Abnormal... ORPHA:805
Williams Syndrome
Involuntary movements, Gait disturbance, Gait imbalance, Dysmetria, Abnormality of extrapyramidal... ORPHA:904
Microphthalmia, Syndromic 2
Spastic paraparesis OMIM:300166

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 Arhgap10

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 Arhgap10.

No publications found that use IMPC mice or data for Arhgap10.

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MGI Allele Allele Type Produced
Arhgap10tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Arhgap10em1(IMPC)Tcp Exon Deletion Mice
Arhgap10tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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