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Gene: Arhgap10 MGI:1925764

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Gene Summary

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

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal sternum morphology Arhgap10em1(IMPC)Tcp HOM Early adult 0.00
decreased body length Arhgap10em1(IMPC)Tcp HOM Early adult 4.55×10-06
enlarged lymph nodes Arhgap10em1(IMPC)Tcp HOM Early adult 0.00
abnormal bone structure Arhgap10em1(IMPC)Tcp HOM Early adult 7.17×10-07
increased mean platelet volume Arhgap10em1(IMPC)Tcp HOM Early adult 1.03×10-18
abnormal skin morphology Arhgap10em1(IMPC)Tcp HOM Early adult 0.00
preweaning lethality, incomplete penetrance Arhgap10em1(IMPC)Tcp HOM Early adult 0.00
abnormal ovary morphology Arhgap10em1(IMPC)Tcp HOM Early adult 0.00

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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 Slit Lamp

81 Images

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Gross Pathology and Tissue Collection

Images

11 Images

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Eye Morphology

Images Ophthalmoscopy

98 Images

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Histopathology

Images

4 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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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
Impaired vibratory sensation, Babinski sign, Spastic paraplegia, Paraplegia, Clonus, Spastic gait OMIM:300750
Neuropathy, Hereditary Sensory, Atypical
Ataxia, Babinski sign, 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
Ataxia, Impaired vibratory sensation, Gait disturbance, Impaired proprioception, Impaired tactile... ORPHA:98765
Ataxia-Oculomotor Apraxia Type 1
Gait disturbance, Ataxia ORPHA:1168
Spastic Ataxia With Congenital Miosis
Ataxia, Hemiplegia/hemiparesis, Spastic ataxia ORPHA:1182
Episodic Ataxia Type 5
Ataxia, Truncal ataxia ORPHA:211067
Neuhauser-Eichner-Opitz Syndrome
Hypertonia, Ataxia, Rigidity, Spasticity ORPHA:2672
Atonic-Astatic Syndrome Of Foerster
Abasia, Ataxia, Inability to walk OMIM:209100
Tapetoretinal Degeneration With Ataxia
Ataxia OMIM:272600
Spastic Ataxia 4, Autosomal Recessive
Babinski sign, Spastic ataxia, Spastic paraparesis OMIM:613672
Ataxia-Deafness-Retardation Syndrome
Ataxia OMIM:208850
Autosomal Recessive Spastic Paraplegia Type 43
Poor fine motor coordination, Spastic paraparesis, Impaired vibratory sensation, Babinski sign, D... ORPHA:320370
Spastic Paraparesis-Deafness Syndrome
Ataxia, Hemiplegia/hemiparesis, Spastic paraparesis, Gait disturbance, Impaired pain sensation ORPHA:2815
Spinocerebellar Ataxia Type 23
Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Babinski sign, Impaired distal vibration s... ORPHA:101108
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Dysmetria, Intention tremor, Dysdiadochokinesis, Unsteady ... OMIM:616053
Alpers-Huttenlocher Syndrome
Paraparesis, Ataxia, Spastic paraparesis, Myoclonus, Progressive spasticity, Choreoathetosis, Spa... ORPHA:726
Asperger Syndrome, X-Linked, Susceptibility To, 2
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:608631
Spinocerebellar Ataxia Type 40
Broad-based gait, Spastic paraparesis, Dysmetria, Intention tremor, Dysdiadochokinesis, Gait atax... ORPHA:423275
Spastic Paraplegia, Epilepsy, And Mental Retardation
Spastic paraplegia, Spastic paraparesis OMIM:182610
Autosomal Spastic Paraplegia Type 30
Ataxia, Babinski sign, Distal sensory impairment, Somatic sensory dysfunction, Progressive spasti... ORPHA:101010
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Intellectual Developmental Disorder, Autosomal Recessive 64
Hypertonia, Slurred speech, Impaired social interactions, Spasticity OMIM:618103
Paraparetic Variant Of Guillain-Barré Syndrome
Paraparesis, Impaired distal proprioception ORPHA:231445
Spinal Arachnoiditis
Spastic paraparesis OMIM:182950
X-Linked Charcot-Marie-Tooth Disease Type 5
Paraparesis, Ataxia, Gait disturbance, Tremor, Impaired pain sensation ORPHA:99014
3-Methylglutaconic Aciduria Type 3
Gait disturbance, Ataxia, Choreoathetosis, Spastic paraparesis ORPHA:67047
Myelopathy, Htlv-1-Associated
Abnormal pyramidal sign, Spastic paraparesis OMIM:159580
Myoclonus, Familial, 1
Frequent falls, Ataxia, Falls, Myoclonus OMIM:614937
Spinocerebellar Ataxia 45
Ataxia, Gait ataxia, Limb ataxia OMIM:617769
Ataxia With Fasciculations
Fasciculations, Ataxia OMIM:108700
Episodic Ataxia, Type 8
Intention tremor, Ataxia, Slurred speech, Episodic ataxia OMIM:616055
Mast Syndrome
Spastic paraparesis, Babinski sign, Spastic paraplegia, Gait disturbance, Apraxia OMIM:248900
Cerebral Creatine Deficiency Syndrome 2
Paraparesis, Hypertonia, Ataxia, Myoclonus, Rigidity, Progressive extrapyramidal movement disorde... OMIM:612736
Bleeding Disorder, Platelet-Type, 24
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619271
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Paraparesis, Distal sensory impairment, Steppage gait OMIM:302802
Spinocerebellar Ataxia, Autosomal Recessive 25
Ataxia, Babinski sign, Truncal ataxia, Dysmetria OMIM:617584
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane... OMIM:187800
Intellectual Developmental Disorder, Autosomal Recessive 66
Gait ataxia, Shyness OMIM:618221
Spinocerebellar Ataxia 41
Ataxia, Unsteady gait OMIM:616410
Autism, Susceptibility To, X-Linked 3
Motor stereotypy, Abnormal nonverbal communicative behavior, Lack of peer relationships OMIM:300496
Autism, Susceptibility To, 8
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:607373
Autism, Susceptibility To, X-Linked 1
Motor stereotypy, Abnormal nonverbal communicative behavior, Lack of peer relationships OMIM:300425
Autism
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:209850
Chromosome 15Q11-Q13 Duplication Syndrome
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:608636
Hereditary Geniospasm
Chin myoclonus, Abnormal social behavior ORPHA:53372
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Paraparesis, Hand tremor, Dysmetria, Tip-toe gait, Babinski sign, Distal sensory impairment, Freq... OMIM:302800
Kufor-Rakeb Syndrome
Paraparesis, Hypertonia, Ataxia, Parkinsonism with favorable response to dopaminergic medication,... OMIM:606693
Intellectual Developmental Disorder, Autosomal Dominant 56
Paraparesis, Ataxia, Spasticity OMIM:617854
Bleeding Disorder, Platelet-Type, 15
Increased mean platelet volume, Thrombocytopenia, Platelet anisocytosis OMIM:615193
Tremor Of Intention, Ataxia, And Lipofuscinosis
Intention tremor, Ataxia OMIM:190200
Spinocerebellar Ataxia 35
Torticollis, Ataxia, Loss of ambulation, Pseudobulbar paralysis, Dysmetria, Intention tremor, Bab... OMIM:613908
Spinocerebellar Ataxia Type 15/16
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Progressive cerebellar ataxia, Spastic paraparesis, Myoclonus, Babinski sign, Frequent falls, Pro... ORPHA:254343
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Spinocerebellar Ataxia, Autosomal Recessive 22
Ataxia, Dysmetria, Intention tremor, Abnormal pyramidal sign, Truncal ataxia, Unsteady gait, Lowe... OMIM:616948
Frontotemporal Dementia With Motor Neuron Disease
Paraparesis, Progressive cerebellar ataxia, Babinski sign, Parkinsonism, Weakness due to upper mo... ORPHA:275872
Spinocerebellar Ataxia Type 35
Torticollis, Progressive cerebellar ataxia, Pseudobulbar paralysis, Dysmetria, Limb ataxia, Inten... ORPHA:276193
Lichtenstein-Knorr Syndrome
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia OMIM:616291
Autosomal Dominant Spastic Paraplegia Type 73
Impaired vibration sensation in the lower limbs, Babinski sign, Difficulty walking, Progressive s... ORPHA:444099
Autosomal Recessive Spastic Paraplegia Type 25
Paraparesis, Spastic paraplegia ORPHA:101005
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Leukocyte inclusi... OMIM:155100
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Paraparesis, Hypertonia, Action tremor, Truncal titubation, Inability to walk, Opisthotonus, Babi... OMIM:607483
Myoclonus, Cerebellar Ataxia, And Deafness
Myoclonus, Ataxia OMIM:159800
Spastic Paraplegia 10, Autosomal Dominant
Ataxia, Impaired vibration sensation in the lower limbs, Ankle clonus, Knee clonus, Babinski sign... OMIM:604187
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Spastic Paraplegia 30, Autosomal Dominant
Ataxia, Dysmetria, Ankle clonus, Babinski sign, Spastic paraplegia, Spastic gait, Lower limb spas... OMIM:610357
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Paraparesis, Extrapyramidal dyskinesia, Parkinsonism, Tetraparesis, Apraxia OMIM:105550
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Ataxia, Inability to walk, Poor eye contact, Dysmetria, Chorea, Gait ataxia OMIM:618501
Primary Angiitis Of The Central Nervous System
Paraparesis, Ataxia, Parkinsonism, Hemiparesis, Tetraparesis, Paralysis ORPHA:140989
Autosomal Dominant Cerebellar Ataxia
Paraparesis, Progressive cerebellar ataxia, Chorea, Tremor, Spasticity, Postural tremor, Tongue f... ORPHA:99
Autosomal Dominant Striatal Neurodegeneration
Rigidity, Dysdiadochokinesis, Bradykinesia, Gait disturbance ORPHA:228169
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Giant ... OMIM:231200
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Spastic tetraparesis, Progressive spastic paraparesis, Spastic ataxia ORPHA:496756
Adrenoleukodystrophy
Paraparesis, Impaired vibration sensation at ankles, Limb ataxia, Truncal ataxia, Spastic paraple... OMIM:300100
Neurodegeneration With Brain Iron Accumulation 8
Loss of ambulation, Ataxia, Dysmetria, Tremor, Unsteady gait OMIM:617917
Myh9-Related Disease
Increased mean platelet volume, Congenital thrombocytopenia, Neutrophil inclusion bodies, Giant p... ORPHA:182050
Pelger-Huet Anomaly
Hyposegmentation of neutrophil nuclei, Upper limb undergrowth, Short 3rd metacarpal, Polydactyly,... OMIM:169400
Vitamin B12-Unresponsive Methylmalonic Acidemia
Paraparesis, Ataxia, Choreoathetosis, Tetraparesis ORPHA:27
Hsd10 Disease
Ataxia, Spastic paraparesis, Abnormal social behavior, Myoclonus, Rigidity, Gait disturbance, Tre... ORPHA:391417
Spastic Ataxia 2, Autosomal Recessive
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... OMIM:611302
Spinocerebellar Ataxia, Autosomal Recessive 26
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Positive Romberg sign, Distal sensory impairm... OMIM:617633
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Tetraplegia/tetraparesis, Ankle clonus, Babinski sign, Progressive spasticity, Progressive spasti... ORPHA:506353
Fechtner syndrome
Leukocyte inclusion bodies, Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets OMIM:153640
X-Linked Adrenoleukodystrophy
Paraparesis, Clumsiness, Hemiparesis, Gait disturbance, Somatic sensory dysfunction, Progressive ... ORPHA:43
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Broad-based gait, Clumsiness, Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Impaired vib... ORPHA:284324
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Bradykinesia, Rigidity, Spasticity, Fasciculations OMIM:183050
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Abnormal pyramidal sign, Spastic paraplegia, Choreoathetosis, Paresthesia, Paroxysmal dyskinesia,... ORPHA:53583
Spinocerebellar Ataxia, Autosomal Recessive 7
Ataxia, Clumsiness, Limb ataxia, Impaired vibratory sensation, Babinski sign, Gait ataxia, Postur... OMIM:609270
Slc35A1-Cdg
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia ORPHA:238459
Spastic Ataxia 5, Autosomal Recessive
Ataxia, Spastic paraparesis, Dysmetria, Myoclonus, Dysdiadochokinesis, Spasticity, Oculomotor apr... OMIM:614487
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia
Truncal ataxia, Spastic paraparesis OMIM:113610
Spastic Paraplegia 20, Autosomal Recessive
Upper limb spasticity, Spastic paraparesis, Dysmetria, Ankle clonus, Knee clonus, Babinski sign, ... OMIM:275900
Spinocerebellar Ataxia Type 29
Ataxia, Dysmetria, Intention tremor, Dysdiadochokinesis, Gait ataxia, Delayed social development,... ORPHA:208513
Autism, Susceptibility To, X-Linked 2
Motor stereotypy, Abnormal nonverbal communicative behavior, Lack of peer relationships OMIM:300495
Spinocerebellar Ataxia 44
Ataxia, Dysmetria, Dysdiadochokinesis, Frequent falls, Gait ataxia, Spasticity OMIM:617691
X-Linked Charcot-Marie-Tooth Disease Type 3
Inability to walk, Spastic paraparesis, Gait disturbance, Tremor, Difficulty walking, Somatic sen... ORPHA:101077
Urocanic Aciduria
Broad-based gait, Ataxia, Action tremor, Truncal ataxia, Gait ataxia ORPHA:210128
Neurodegeneration With Brain Iron Accumulation 6
Bradykinesia, Spastic paraparesis, Tip-toe gait, Rigidity, Gait disturbance, Spastic tetraplegia OMIM:615643
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly OMIM:153670
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Ataxia, Bradykinesia, Spastic paraparesis, Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, ... OMIM:615157
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Dysmetria, Intention tremor, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Babinski sign,... OMIM:301310
Spinocerebellar Ataxia 4
Limb dysmetria, Babinski sign, Progressive cerebellar ataxia, Distal sensory impairment OMIM:600223
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Resting tremor, Spastic paraparesis, Ankle clonus, Babinski sign, Cogwheel rigidity... ORPHA:363654
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Spinocerebellar Ataxia, X-Linked 4
Tremor, Ataxia, Abnormal pyramidal sign OMIM:301840
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Increased mean platelet volume, Thrombocytopenia OMIM:300048
Sitosterolemia 1
Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Impaired platelet aggregation, Chronic ... OMIM:210250
Late-Infantile/Juvenile Krabbe Disease
Hemiplegia, Ataxia, Upper motor neuron dysfunction, Clumsiness, Loss of ambulation, Spastic parap... ORPHA:206443
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Ataxia, Spastic paraparesis, Dysmetria, Myoclonus, Dysdiadochokinesis, Spastic dysarthria, Spasti... ORPHA:313772
Takenouchi-Kosaki Syndrome
Overlapping toe, Hypospadias, Tapered finger, Camptodactyly, Increased mean platelet volume, Clin... OMIM:616737
Spinocerebellar Ataxia Type 19/22
Broad-based gait, Ataxia, Impaired vibration sensation at ankles, Limb ataxia, Poor coordination,... ORPHA:98772
Spastic Paraplegia 75, Autosomal Recessive
Spastic paraparesis, Babinski sign, Dysmetria, Spastic dysarthria OMIM:616680
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume, Lymphadenopathy OMIM:617718
Adult Krabbe Disease
Hemiplegia, Broad-based gait, Ataxia, Clumsiness, Acroparesthesia, Hoffmann sign, Babinski sign, ... ORPHA:206448
Peroxisome Biogenesis Disorder 8B
Spastic paraparesis, Ataxia, Spasticity, Dysmetria OMIM:614877
Lathosterolosis
Ambiguous genitalia, male, Hepatosplenomegaly, Anisopoikilocytosis, Osteoporosis, Acanthocytosis,... OMIM:607330
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Spastic paraparesis, Rigidity, Parkinsonism, Tremor, Abnormality of extrapyramidal ... OMIM:300894
Arnold-Chiari Malformation Type Ii
Paraparesis, Ataxia, Opisthotonus, Paraplegia, Difficulty walking, Somatic sensory dysfunction, S... ORPHA:1136
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Decreased testicular size, Hypogonadism ORPHA:1875
Primary Lateral Sclerosis
Babinski sign, Weakness due to upper motor neuron dysfunction, Spastic dysarthria, Progressive sp... ORPHA:35689
Gonadoblastoma
Ovarian gonadoblastoma, Gonadal dysgenesis with female appearance, male, Female external genitali... ORPHA:206484
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Leukodystrophy, Hypomyelinating, 2
Ataxia, Spastic paraparesis, Intention tremor, Babinski sign, Rigidity, Head titubation, Progress... OMIM:608804
Spinal Arteriovenous Metameric Syndrome
Paraparesis ORPHA:53721
Satoyoshi Syndrome
Abnormality of femur morphology, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormal hip ... ORPHA:3130
Autosomal Recessive Spastic Paraplegia Type 11
Paraparesis, Ataxia, Inability to walk, Parkinsonism, Progressive spasticity, Gait disturbance, A... ORPHA:2822
Burkitt Lymphoma
Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Abnormality of th... ORPHA:543
Mitochondrial Membrane Protein-Associated Neurodegeneration
Bradykinesia, Hand tremor, Spastic paraparesis, Babinski sign, Parkinsonism, Rigidity, Frequent f... ORPHA:289560
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Sensory ataxia, Spastic paraparesis, Impaired vibratory sensation, Babinski sign, Difficulty walk... OMIM:500013
Acute Transverse Myelitis
Paraparesis, Impaired vibratory sensation, Babinski sign, Gait disturbance, Paraplegia, Somatic s... ORPHA:139417
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Dentatorubral Pallidoluysian Atrophy
Ataxia, Action tremor, Progressive cerebellar ataxia, Dyssynergia, Limb ataxia, Dysmetria, Blepha... ORPHA:101
Autism, Susceptibility To, 3
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:608049
Early-Onset Autosomal Dominant Alzheimer Disease
Hypertonia, Ataxia, Abnormal social behavior, Myoclonus, Parkinsonism, Apraxia, Oculomotor apraxia ORPHA:1020
Beta-Propeller Protein-Associated Neurodegeneration
Bradykinesia, Spastic paraparesis, Rigidity, Parkinsonism, Tremor ORPHA:329284
Tetragametic Chimerism
Gonadal dysgenesis with female appearance, male, Micropenis, Bifid scrotum, Perineal hypospadias,... ORPHA:199310
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Overlapping toe, Hypospadias, Abnormality of the lymphatic system, Tapered finger, Camptodactyly,... ORPHA:487796
Arachnoid Cyst
Paraparesis, Inability to walk, Hemiparesis, Distal sensory impairment, Tetraparesis, Gait distur... ORPHA:2356
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Impaired ristocetin-induced platelet aggregation, Macrot... ORPHA:274
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Coasy Protein-Associated Neurodegeneration
Difficulty walking, Parkinsonism, Spastic paraparesis ORPHA:397725
Trichohepatoenteric Syndrome 1
Splenomegaly, Hypospadias, Avascular necrosis of the capital femoral epiphysis, Increased mean pl... OMIM:222470
Gaucher Disease, Type Iii
Myoclonus, Ataxia, Spastic paraparesis OMIM:231000
Poliomyelitis
Paraparesis, Inability to walk, Hyperkinetic movements, Paralysis, Paresthesia, Fasciculations ORPHA:2912
Waardenburg Syndrome, Type 4A
Ataxia, Spastic paraparesis OMIM:277580
Neurofibromatosis, Familial Spinal
Paraparesis OMIM:162210
Hypermanganesemia With Dystonia 1
Bradykinesia, Poor fine motor coordination, Spastic paraparesis, Rigidity, Parkinsonism, Tremor, ... OMIM:613280
Dopa-Responsive Dystonia
Inability to walk, Poor coordination, Abnormal social behavior, Abnormality of extrapyramidal mot... ORPHA:255
Paget Disease Of Bone 2, Early-Onset
Paraparesis, Tetraparesis OMIM:602080
X-Linked Charcot-Marie-Tooth Disease Type 2
Hand tremor, Spastic paraparesis, Clasp-knife sign, Babinski sign, Distal sensory impairment, Gai... ORPHA:101076
Metachromatic Leukodystrophy, Late Infantile Form
Clumsiness, Tip-toe gait, Abnormal social behavior, Decerebrate rigidity, Babinski sign, Frequent... ORPHA:309256
Developmental And Epileptic Encephalopathy 82
Inability to walk, Spastic tetraplegia, Spastic paraparesis OMIM:618721
Syndromic Diarrhea
Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Increased mean platelet volume, Thrombocytosis ORPHA:84064
Leukodystrophy, Hypomyelinating, 3
Abnormal pyramidal sign, Spastic paraparesis OMIM:260600
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor excision circle ... OMIM:602450
Bilateral Perisylvian Polymicrogyria
Paraparesis, Pseudobulbar paralysis, Dysmetria, Limb hypertonia, Oromotor apraxia, Spasticity, Sp... ORPHA:98889
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Storage Pool Platelet Disease
Acute leukemia, Decreased mean platelet volume OMIM:185050
Cerebrotendinous Xanthomatosis
Paraparesis, Ataxia, Spastic paraparesis, Resting tremor, Babinski sign, Abnormal pyramidal sign,... ORPHA:909
Isolated Succinate-Coq Reductase Deficiency
Ataxia, Loss of ambulation, Spastic paraparesis, Babinski sign, Frequent falls, Spasticity, Lower... ORPHA:3208
Bleeding Disorder, Platelet-Type, 17
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... OMIM:187900
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Osteopetrosis, Hepatosplenomegaly, Abno... OMIM:612840
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Spastic paraparesis, Poor coordination, Impaired vibratory sensation, Abnormal pyramidal sign, Sp... OMIM:238970
Oculodentodigital Dysplasia
Paraparesis, Ataxia, Spasticity, Tetraparesis OMIM:164200
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Paraparesis, Paraplegia, Hemiparesis ORPHA:79124
Lamb-Shaffer Syndrome
Motor stereotypy, Ataxia, Upper motor neuron dysfunction, Abnormal social behavior ORPHA:530983
Pelizaeus-Merzbacher Disease In Female Carriers
Inability to walk, Spastic paraparesis, Hand apraxia, Babinski sign, Gait disturbance, Difficulty... ORPHA:280229
Metachromatic Leukodystrophy, Juvenile Form
Clumsiness, Abnormal social behavior, Intention tremor, Decerebrate rigidity, Babinski sign, Freq... ORPHA:309263
Farber Disease
Paraparesis, Myoclonus, Spasticity ORPHA:333
Congenital Disorder Of Glycosylation, Type Iif
Clinodactyly, Macrothrombocytopenia, Neutropenia, Thrombocytopenia, Decreased platelet glycoprote... OMIM:603585
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Thrombocytopenia 1
Intermittent thrombocytopenia, Congenital thrombocytopenia, Decreased mean platelet volume OMIM:313900
Purine Nucleoside Phosphorylase Deficiency
Hypertonia, Ataxia, Spastic paraparesis, Cerebral palsy, Spasticity, Abnormal central motor function ORPHA:760
11Q22.2Q22.3 Microdeletion Syndrome
Poor eye contact, Abnormal social behavior ORPHA:444002
Metachromatic Leukodystrophy, Adult Form
Clumsiness, Abnormal social behavior, Intention tremor, Decerebrate rigidity, Babinski sign, Prog... ORPHA:309271
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... ORPHA:2138
Fatty Acid Hydroxylase-Associated Neurodegeneration
Loss of ambulation, Progressive spastic quadriplegia, Progressive extrapyramidal movement disorde... ORPHA:329308
Rift Valley Fever
Paraparesis, Paralysis, Decerebrate rigidity, Hemiparesis ORPHA:319251
Multiple Carboxylase Deficiency
Ataxia, Spastic paraparesis ORPHA:148
Cataracts, Spastic Paraparesis, And Speech Delay
Spastic paraparesis OMIM:619338
Combined Oxidative Phosphorylation Defect Type 7
Ataxia, Inability to walk, Spastic paraparesis, Abnormal pyramidal sign, Distal sensory impairmen... ORPHA:254930
Igg4-Related Pachymeningitis
Paraparesis, Somatic sensory dysfunction ORPHA:449427
Ovarian Fibroma
Ovarian fibroma, Gonadal calcification, Abnormality of the ovary ORPHA:314473
Sternum, Premature Obliteration Of Sutures Of
Cryptorchidism, Short sternum OMIM:184800
Ovarian Fibrothecoma
Ovarian fibroma, Gonadal calcification, Abnormality of the ovary, Abnormal endometrium morphology ORPHA:314478
Sjogren-Larsson Syndrome
Spasticity, Spastic paraparesis OMIM:270200
Autosomal Recessive Spastic Paraplegia Type 55
Poor fine motor coordination, Spastic paraparesis, Babinski sign, Distal sensory impairment, Spas... ORPHA:320375
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegaly, Lymph node hypop... OMIM:613179
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Lymphopenia, Abnormally low T cell receptor excision circl... ORPHA:276
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Overfriendliness, Incoordination, Ataxia, Spastic paraparesis ORPHA:369891
Foix-Alajouanine Syndrome
Gait imbalance, Frequent falls, Somatic sensory dysfunction, Difficulty walking, Progressive spas... ORPHA:79093
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Spastic paraparesis, Unsteady gait, Hand tremor, Dysmetria ORPHA:3041
Wiskott-Aldrich Syndrome, Autosomal Dominant
Lymphopenia, Absent microvilli on the surface of peripheral blood lymphocytes, Decreased mean pla... OMIM:600903
Müllerian Aplasia And Hyperandrogenism
Brachydactyly, Abnormal vagina morphology, Hypoplasia of the uterus, Abnormality of the ovary ORPHA:247768
Fibrous Dysplasia Of Bone
Abnormality of femur morphology, Ovarian cyst, Abnormality of the humerus, Thin bony cortex, Abno... ORPHA:249
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal external genitalia, Craniosynostosis, Femoral bowing, Radioulnar synostosis, Ambiguous g... ORPHA:95699
Wiskott-Aldrich Syndrome
Lymphopenia, Eosinophilia, Absent microvilli on the surface of peripheral blood lymphocytes, Decr... OMIM:301000
Autosomal Recessive Spastic Paraplegia Type 20
Spastic paraparesis, Impaired vibratory sensation, Ankle clonus, Babinski sign, Spastic dysarthri... ORPHA:101000
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hypertonia, Action tremor, Bradykinesia, Poor fine motor coordination, Spastic paraparesis, Dysdi... ORPHA:309854
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Abnormality of the urethra, Abnormality of the ovary ORPHA:2795
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Ataxia, Spastic paraparesis, Hemiparesis, Lower limb spasticity, Gait disturbance, Upper motor ne... ORPHA:395
Fraser-Like Syndrome
Ovarian cyst, Overlapping toe, Contracture of the proximal interphalangeal joint of the 2nd finger OMIM:229230
Bardet-Biedl Syndrome 1
Micropenis, Postaxial polydactyly, Brachydactyly, Syndactyly, Postaxial hand polydactyly, Radial ... OMIM:209900
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Ataxia, Dysmetria, Abnormal social behavior, Intention tremor, Nonprogressive cerebellar ataxia, ... ORPHA:314647
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior ORPHA:101039
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Childhood Absence Epilepsy
Punding, Limb myoclonus, Abnormal social behavior ORPHA:64280
Agammaglobulinemia, X-Linked
Prostatitis, B lymphocytopenia, T lymphocytopenia, Epididymitis, Neutropenia, Lymph node hypoplas... OMIM:300755
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Broad-based gait, Spastic paraparesis ORPHA:391408
Scheie Syndrome
Cerebral palsy, Spastic paraparesis ORPHA:93474
Niemann-Pick Disease Type C
Ataxia, Cataplexy, Upper motor neuron dysfunction, Clumsiness, Abnormal social behavior, Intentio... ORPHA:646
Argininemia
Frequent falls, Spastic gait, Progressive spastic quadriplegia, Spastic paraparesis OMIM:207800
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Torticollis, Ataxia, Spastic paraparesis, Myoclonus, Distal sensory impairment, Spasticity, Spast... OMIM:609136
Adrenomyeloneuropathy
Babinski sign, Distal sensory impairment, Progressive spastic paraparesis, Spasticity, Dysesthesi... ORPHA:139399
Epidermal Nevus Syndrome
Hypertonia, Babinski sign, Progressive spastic paraparesis ORPHA:35125
Eales Disease
Spastic paraparesis ORPHA:40923
48,Xxxy Syndrome
Tremor, Abnormal social behavior ORPHA:96263
Biotinidase Deficiency
Ataxia, Spastic paraparesis ORPHA:79241
Turner Syndrome Due To Structural X Chromosome Anomalies
Splayed toes, Short toe, Short sternum, Reduced bone mineral density, Enlargement of the distal f... ORPHA:99413
Turner Syndrome
Splayed toes, Short toe, Short sternum, Reduced bone mineral density, Enlargement of the distal f... ORPHA:881
Mosaic Monosomy X
Splayed toes, Short toe, Short sternum, Reduced bone mineral density, Enlargement of the distal f... ORPHA:99228
Monosomy X
Splayed toes, Short toe, Short sternum, Reduced bone mineral density, Enlargement of the distal f... ORPHA:99226
Oculodentodigital Dysplasia
Gait disturbance, Ataxia, Spasticity, Spastic paraparesis ORPHA:2710
Hypoplasminogenemia
Abnormal fallopian tube morphology, Abnormality of the ovary, Cervicitis ORPHA:722
Split Cord Malformation
Paraparesis ORPHA:573278
Aicardi-Goutières Syndrome
Hypertonia, Hemiplegia/hemiparesis, Extrapyramidal muscular rigidity, Spastic paraparesis, Abnorm... ORPHA:51
Craniorachischisis
Bifid sternum ORPHA:63260
Coffin-Lowry Syndrome
Drumstick terminal phalanges, Uterine prolapse, Hyperextensibility of the finger joints, Tapered ... OMIM:303600
Fg Syndrome Type 1
Broad-based gait, Abnormal social behavior ORPHA:93932
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Spastic paraparesis OMIM:619234
Hurler Syndrome
Cerebral palsy, Abnormal pyramidal sign, Spastic paraparesis ORPHA:93473
Dihydropyrimidine Dehydrogenase Deficiency
Hypertonia, Inability to walk, Abnormal social behavior ORPHA:1675
Say-Barber-Miller Syndrome
Ankle clonus, Babinski sign, Spastic paraparesis, Lower limb hypertonia ORPHA:3132
Prader-Willi Syndrome Due To Translocation
Motor stereotypy, Impaired social interactions, Abnormal social behavior ORPHA:177907
Mend Syndrome
Limb hypertonia, Abnormal social behavior ORPHA:401973
Koolen-De Vries Syndrome Due To A Point Mutation
Overfriendliness, Speech apraxia, Abnormal social behavior ORPHA:363965
17Q21.31 Microdeletion Syndrome
Overfriendliness, Speech apraxia, Abnormal social behavior ORPHA:363958
Williams Syndrome
Overfriendliness, Gait imbalance, Ataxia, Dysmetria, Abnormal social behavior, Gait disturbance, ... ORPHA:904
Tuberous Sclerosis Complex
Repetitive compulsive behavior, Abnormal social behavior ORPHA:805
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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