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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 skin morphology Arhgap10em1(IMPC)Tcp HOM Early adult 0.00
abnormal ovary morphology Arhgap10em1(IMPC)Tcp HOM Early adult 0.00
decreased body length Arhgap10em1(IMPC)Tcp HOM Early adult 4.86×10-06
enlarged lymph nodes Arhgap10em1(IMPC)Tcp HOM Early adult 0.00
abnormal bone structure Arhgap10em1(IMPC)Tcp HOM Early adult 9.51×10-07
abnormal sternum morphology Arhgap10em1(IMPC)Tcp HOM Early adult 0.00
increased mean platelet volume Arhgap10em1(IMPC)Tcp HOM Early adult 1.03×10-18

Download data as:  TSV  XLS

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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

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Eye Morphology

Images Slit Lamp

81 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

11 Images

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Histopathology

Images

4 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

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, Spastic paraplegia, Paraplegia, Babinski sign, Clonus, Spastic gait OMIM:300750
Posterior Column Ataxia
Impaired vibratory sensation, Impaired proprioception, Ataxia OMIM:176250
Spinocerebellar Ataxia, X-Linked 2
Abnormality of extrapyramidal motor function, Ataxia OMIM:302600
Spastic Paraplegia 72A, Autosomal Dominant
Spastic paraplegia, Spasticity, Tip-toe gait, Impaired vibration sensation in the lower limbs, Ho... OMIM:615625
Episodic Ataxia Type 5
Truncal ataxia, Ataxia ORPHA:211067
Ataxia-Oculomotor Apraxia Type 1
Gait disturbance, Ataxia ORPHA:1168
Spastic Ataxia With Congenital Miosis
Spastic ataxia, Hemiplegia/hemiparesis, Ataxia ORPHA:1182
Neuhauser-Eichner-Opitz Syndrome
Spasticity, Rigidity, Hypertonia, Ataxia ORPHA:2672
Atonic-Astatic Syndrome Of Foerster
Inability to walk, Abasia, Ataxia OMIM:209100
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Tremor, Ankle cl... OMIM:616053
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Ataxia-Deafness-Retardation Syndrome
Ataxia OMIM:208850
Autosomal Recessive Spastic Paraplegia Type 43
Impaired vibratory sensation, Spasticity, Spastic paraparesis, Difficulty walking, Babinski sign,... ORPHA:320370
Spastic Paraparesis-Deafness Syndrome
Spastic paraparesis, Impaired pain sensation, Hemiplegia/hemiparesis, Gait disturbance, Ataxia ORPHA:2815
Spinocerebellar Ataxia Type 23
Progressive cerebellar ataxia, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Impaired dista... ORPHA:101108
Spinocerebellar Ataxia Type 40
Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Unsteady gait, D... ORPHA:423275
Intellectual Developmental Disorder, Autosomal Recessive 64
Spasticity, Reduced social reciprocity, Hypertonia, Slurred speech OMIM:618103
Autosomal Spastic Paraplegia Type 30
Somatic sensory dysfunction, Progressive spastic paraplegia, Distal sensory impairment, Babinski ... ORPHA:101010
Alpers-Huttenlocher Syndrome
Spasticity, Spastic paraparesis, Myoclonus, Paraparesis, Ataxia, Progressive spasticity, Choreoat... ORPHA:726
Paraparetic Variant Of Guillain-Barré Syndrome
Paraparesis, Impaired distal proprioception ORPHA:231445
Spinal Arachnoiditis
Spastic paraparesis OMIM:182950
3-Methylglutaconic Aciduria Type 3
Spastic paraparesis, Gait disturbance, Choreoathetosis, Ataxia ORPHA:67047
Spastic Ataxia 4, Autosomal Recessive
Spastic paraparesis, Upper limb hypertonia, Limb ataxia, Gait ataxia, Babinski sign, Spastic atax... OMIM:613672
Ataxia With Fasciculations
Fasciculations, Ataxia OMIM:108700
X-Linked Charcot-Marie-Tooth Disease Type 5
Impaired pain sensation, Tremor, Gait disturbance, Paraparesis, Ataxia ORPHA:99014
Cerebral Creatine Deficiency Syndrome 2
Myoclonus, Tremor, Rigidity, Lower limb spasticity, Paraparesis, Hypertonia, Ataxia, Progressive ... OMIM:612736
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... OMIM:187800
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Resting tremor, Incoordination, Limb ataxia, Gait ataxia, Limb fasciculation... OMIM:615157
Episodic Ataxia, Type 8
Ataxia, Slurred speech, Intention tremor, Episodic ataxia OMIM:616055
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... OMIM:619271
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Postural tremor, Myoclonus, Reduced social reciprocity, Torticollis, Kinet... OMIM:611092
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm... OMIM:615193
Hereditary Geniospasm
Chin myoclonus, Abnormal social behavior ORPHA:53372
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Paraparesis, Steppage gait, Distal sensory impairment OMIM:302802
Spinocerebellar Ataxia, Autosomal Recessive 25
Truncal ataxia, Babinski sign, Dysmetria, Ataxia OMIM:617584
Spinocerebellar Ataxia 41
Unsteady gait, Gait ataxia, Ataxia OMIM:616410
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Progressive cerebellar ataxia, Spastic paraparesis, Upper limb hypertonia, Myoclonus, Progressive... ORPHA:254343
Kufor-Rakeb Syndrome
Spastic paraplegia, Spasticity, Akinesia, Myoclonus, Distal sensory impairment, Rigidity, Tremor,... OMIM:606693
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tip-toe gait, Hand tremor, Difficulty walking, Incoordination, Dysmetria, Distal sensory impairme... OMIM:302800
Spastic Paraplegia 48, Autosomal Recessive
Spastic paraplegia, Broad-based gait, Spastic paraparesis, Tip-toe gait, Dysmetria, Parkinsonism,... OMIM:613647
Mast Syndrome
Spastic paraplegia, Spastic paraparesis, Incoordination, Babinski sign, Apraxia, Gait disturbance... OMIM:248900
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Inappropriate behavior, Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor ne... ORPHA:401901
Tremor Of Intention, Ataxia, And Lipofuscinosis
Intention tremor, Ataxia OMIM:190200
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... ORPHA:98769
Chromosome 15Q11-Q13 Duplication Syndrome
Impaired ability to form peer relationships, Truncal ataxia, Unsteady gait, Reduced social recipr... OMIM:608636
Spinocerebellar Ataxia 35
Pseudobulbar paralysis, Incoordination, Difficulty walking, Dysmetria, Loss of ambulation, Babins... OMIM:613908
Myelopathy, Htlv-1-Associated
Spastic paraparesis, Abnormal pyramidal sign OMIM:159580
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume ORPHA:494444
Myoclonus, Familial, 1
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls OMIM:614937
Intellectual Developmental Disorder, Autosomal Dominant 56
Broad-based gait, Spasticity, Inability to walk, Myoclonus, Reduced social reciprocity, Clumsines... OMIM:617854
Spinocerebellar Ataxia, Autosomal Recessive 22
Dysmetria, Lower limb spasticity, Abnormal pyramidal sign, Ataxia, Truncal ataxia, Unsteady gait,... OMIM:616948
Frontotemporal Dementia With Motor Neuron Disease
Tetraparesis, Fasciculations, Abnormality of extrapyramidal motor function, Babinski sign, Parkin... ORPHA:275872
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll... OMIM:620486
Spinocerebellar Ataxia Type 35
Pseudobulbar paralysis, Difficulty walking, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, T... ORPHA:276193
Autosomal Dominant Spastic Paraplegia Type 73
Progressive spastic paraplegia, Progressive spastic paraparesis, Difficulty walking, Impaired vib... ORPHA:444099
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy... OMIM:155100
Autosomal Recessive Spastic Paraplegia Type 25
Spastic paraplegia, Paraparesis ORPHA:101005
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Myoclonus, Cerebellar Ataxia, And Deafness
Myoclonus, Ataxia OMIM:159800
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Basal Ganglia Disease, Biotin-Thiamine Responsive
Truncal titubation, Tetraparesis, Inability to walk, Chorea, Gait ataxia, Action tremor, Cogwheel... OMIM:607483
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Spastic Paraplegia 30, Autosomal Dominant
Spastic paraplegia, Dysmetria, Ankle clonus, Babinski sign, Lower limb spasticity, Ataxia, Spasti... OMIM:610357
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Progressive spastic paraplegia, Progressive spastic paraparesis, Ankle clonus, Babinski sign, Tet... ORPHA:506353
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Tetraparesis, Apraxia, Parkinsonism, Paraparesis, Extrapyramidal dyskinesia OMIM:105550
Urocanase Deficiency
Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Ataxia, Truncal ataxia OMIM:276880
Primary Angiitis Of The Central Nervous System
Tetraparesis, Hemiparesis, Paralysis, Parkinsonism, Paraparesis, Ataxia ORPHA:140989
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia OMIM:612437
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Reduced social reciprocity OMIM:606053
Spinocerebellar Ataxia 11
Gait imbalance, Limb ataxia, Gait ataxia, Truncal ataxia, Progressive cerebellar ataxia OMIM:604432
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Spastic ataxia, Progressive spastic paraparesis, Spastic tetraparesis ORPHA:496756
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Thrombo... OMIM:231200
Autosomal Dominant Striatal Neurodegeneration
Bradykinesia, Gait disturbance, Dysdiadochokinesis, Rigidity ORPHA:228169
Adrenoleukodystrophy
Spastic paraplegia, Incoordination, Limb ataxia, Paraparesis, Truncal ataxia, Impaired vibration ... OMIM:300100
Bleeding Disorder, Platelet-Type, 21
Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impa... OMIM:617443
Myh9-Related Disease
Neutrophil inclusion bodies, Giant platelets, Congenital thrombocytopenia, Increased mean platele... ORPHA:182050
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait OMIM:617917
Spastic Paraplegia 75, Autosomal Recessive
Spasticity, Spastic paraparesis, Dysmetria, Loss of ambulation, Babinski sign, Abnormal pyramidal... OMIM:616680
Pelger-Huet Anomaly
Short 3rd metacarpal, Giant platelets, Upper limb undergrowth, Short 5th metacarpal, Polydactyly,... OMIM:169400
Hsd10 Disease
Spastic paraparesis, Myoclonus, Tremor, Rigidity, Gait disturbance, Ataxia, Choreoathetosis, Abno... ORPHA:391417
Vitamin B12-Unresponsive Methylmalonic Acidemia
Paraparesis, Tetraparesis, Choreoathetosis, Ataxia ORPHA:27
X-Linked Adrenoleukodystrophy
Somatic sensory dysfunction, Progressive spastic paraparesis, Incoordination, Hemiparesis, Clumsi... ORPHA:43
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate... OMIM:153670
Peroxisome Biogenesis Disorder 8B
Spasticity, Spastic paraparesis, Tip-toe gait, Gait ataxia, Dysmetria, Rigidity, Loss of ambulati... OMIM:614877
X-Linked Charcot-Marie-Tooth Disease Type 3
Spastic paraparesis, Somatic sensory dysfunction, Difficulty walking, Inability to walk, Tremor, ... ORPHA:101077
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Spasticity, Fasciculations, Rigidity, Ataxia, Bradykinesia OMIM:183050
Slc35A1-Cdg
Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules ORPHA:238459
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Impaired vibratory sensation, Broad-based gait, Difficulty walking, Postural tremor, Limb ataxia,... ORPHA:284324
Congenital Disorder Of Glycosylation, Type Iig
Posterior rib gap, Osteopenia, Small hand, Shallow acetabular fossae, Ulnar deviation of finger, ... OMIM:611209
Spastic Ataxia 5, Autosomal Recessive
Spasticity, Spastic paraparesis, Myoclonus, Dysmetria, Spastic ataxia, Oculomotor apraxia, Ataxia... OMIM:614487
Spinocerebellar Ataxia Type 29
Dysdiadochokinesis, Gait ataxia, Dysmetria, Delayed early-childhood social milestone development,... ORPHA:208513
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Spastic paraparesis, Resting tremor, Cogwheel rigidity, Ankle clonus, Babinski sign, ... ORPHA:363654
Thrombocytopenia 2
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia OMIM:188000
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Impaired vibratory sensation, Spasticity, Spastic paraparesis, Spastic paraplegia, Dysmetria, Abn... OMIM:238970
Spinocerebellar Ataxia 44
Spasticity, Gait ataxia, Dysmetria, Ataxia, Frequent falls, Dysdiadochokinesis OMIM:617691
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Cryptorchidism, Anemia of inadequate production, Anisocytosis, Poikilocytosis... ORPHA:67044
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Neurodegeneration With Brain Iron Accumulation 6
Spastic paraparesis, Tip-toe gait, Rigidity, Gait disturbance, Bradykinesia, Spastic tetraplegia OMIM:615643
Late-Infantile/Juvenile Krabbe Disease
Spastic paraparesis, Acroparesthesia, Difficulty walking, Hemiplegia, Spastic diplegia, Tremor, I... ORPHA:206443
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Sitosterolemia 1
Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb... OMIM:210250
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Spasticity, Spastic paraparesis, Myoclonus, Dysmetria, Oculomotor apraxia, Ataxia, Spastic dysart... ORPHA:313772
Parkinsonism-Dystonia 3, Childhood-Onset
Chorea, Action tremor, Tremor, Reduced social reciprocity, Hyperkinetic movements, Parkinsonism, ... OMIM:619738
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Overlapping toe, Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume OMIM:620475
Takenouchi-Kosaki Syndrome
Hypospadias, Clinodactyly, Overlapping toe, Cryptorchidism, Thrombocytopenia, Camptodactyly, Incr... OMIM:616737
Spinocerebellar Ataxia Type 19/22
Broad-based gait, Difficulty walking, Limb ataxia, Cogwheel rigidity, Ataxia, Truncal ataxia, Poo... ORPHA:98772
Adult Krabbe Disease
Spasticity, Broad-based gait, Acroparesthesia, Somatic sensory dysfunction, Tetraparesis, Progres... ORPHA:206448
Spastic Paraplegia 20, Autosomal Recessive
Spastic paraplegia, Spastic paraparesis, Difficulty walking, Dysmetria, Ankle clonus, Babinski si... OMIM:275900
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Gon... ORPHA:206484
Spinocerebellar Ataxia, Autosomal Recessive 7
Truncal titubation, Impaired vibratory sensation, Postural tremor, Limb ataxia, Gait ataxia, Dysm... OMIM:609270
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation OMIM:124900
Primary Lateral Sclerosis
Spasticity, Spastic gait, Progressive spastic paraparesis, Babinski sign, Weakness due to upper m... ORPHA:35689
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia, Thrombocytopenia OMIM:616176
Leukodystrophy, Hypomyelinating, 2
Spastic paraparesis, Intention tremor, Rigidity, Babinski sign, Head titubation, Ataxia, Progress... OMIM:608804
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Impaired vibratory sensation, Spastic paraparesis, Difficulty walking, Babinski sign, Sensory ata... OMIM:500013
Alexander Disease Type Ii
Spasticity, Spastic paraparesis, Rigidity, Babinski sign, Ataxia, Palatal tremor ORPHA:363722
Satoyoshi Syndrome
Abnormal epiphysis morphology, Abnormality of the uterus, Abnormality of the ovary, Abnormal hip ... ORPHA:3130
Mitochondrial Membrane Protein-Associated Neurodegeneration
Spasticity, Spastic paraparesis, Shuffling gait, Hand tremor, Rigidity, Babinski sign, Parkinsoni... ORPHA:289560
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Burkitt Lymphoma
Abnormality of the ovary, Abnormality of the spleen, Decreased proportion of CD4-positive helper ... ORPHA:543
Atypical Rett Syndrome
Spasticity, Involuntary movements, Pill-rolling tremor, Impaired pain sensation, Limb myoclonus, ... ORPHA:3095
Beta-Propeller Protein-Associated Neurodegeneration
Spastic paraparesis, Tremor, Rigidity, Parkinsonism, Bradykinesia ORPHA:329284
Spinal Arteriovenous Metameric Syndrome
Paraparesis ORPHA:53721
Dentatorubral Pallidoluysian Atrophy
Blepharospasm, Involuntary movements, Dysdiadochokinesis, Limb ataxia, Gait ataxia, Action tremor... ORPHA:101
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Spastic ataxia, Paraparesis, Cerebral palsy, Spastic tetraparesis OMIM:620358
Autosomal Recessive Spastic Paraplegia Type 11
Inability to walk, Abnormality of extrapyramidal motor function, Parkinsonism, Paraparesis, Gait ... ORPHA:2822
Tetragametic Chimerism
Clitoral hypertrophy, Bifid scrotum, Blood group antigen abnormality, Abnormality of the ovary, A... ORPHA:199310
Acute Transverse Myelitis
Impaired vibratory sensation, Spasticity, Somatic sensory dysfunction, Dissociated sensory loss, ... ORPHA:139417
Early-Onset Autosomal Dominant Alzheimer Disease
Myoclonus, Parkinsonism, Oculomotor apraxia, Apraxia, Hypertonia, Ataxia, Abnormal social behavior ORPHA:1020
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Decreas... ORPHA:274
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Clinodactyly, Overlapping toe, Abnormality of the lymphatic system, Thrombocytopenia... ORPHA:487796
Coasy Protein-Associated Neurodegeneration
Difficulty walking, Parkinsonism, Spastic paraparesis ORPHA:397725
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Decreased testicular size, Abnormality of the ovary ORPHA:1875
Arachnoid Cyst
Tetraparesis, Inability to walk, Paresthesia, Distal sensory impairment, Hemiparesis, Paraparesis... ORPHA:2356
Developmental And Epileptic Encephalopathy 82
Inability to walk, Spastic paraparesis, Spastic tetraplegia OMIM:618721
Trichohepatoenteric Syndrome 1
Avascular necrosis of the capital femoral epiphysis, Splenomegaly, Thrombocytosis, Hypospadias, I... OMIM:222470
Gaucher Disease, Type Iii
Spastic paraparesis, Myoclonus, Ataxia OMIM:231000
Waardenburg Syndrome, Type 4A
Spastic paraparesis, Ataxia OMIM:277580
Poliomyelitis
Fasciculations, Inability to walk, Paresthesia, Hyperkinetic movements, Paralysis, Paraparesis ORPHA:2912
X-Linked Charcot-Marie-Tooth Disease Type 2
Clasp-knife sign, Spastic paraparesis, Hand tremor, Distal sensory impairment, Babinski sign, Ste... ORPHA:101076
Hypermanganesemia With Dystonia 1
Spastic paraparesis, Tremor, Rigidity, Abnormality of extrapyramidal motor function, Parkinsonism... OMIM:613280
Neurofibromatosis, Familial Spinal
Paraparesis OMIM:162210
Paget Disease Of Bone 2, Early-Onset
Paraparesis, Tetraparesis OMIM:602080
Isolated Succinate-Coq Reductase Deficiency
Spasticity, Spastic paraparesis, Loss of ambulation, Babinski sign, Ataxia, Spastic tetraparesis,... ORPHA:3208
Metachromatic Leukodystrophy, Late Infantile Form
Spasticity, Tip-toe gait, Gait ataxia, Progressive gait ataxia, Babinski sign, Clumsiness, Decere... ORPHA:309256
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Genital ulcers, Lymphopenia, Lymph node hyp... OMIM:602450
Amyloidosis, Hereditary Systemic 1
Spasticity, Spastic paraparesis, Paraplegia, Limb ataxia, Positive Romberg sign, Tremor, Hemipare... OMIM:105210
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Bilateral Perisylvian Polymicrogyria
Spasticity, Oromotor apraxia, Pseudobulbar paralysis, Dysmetria, Paraparesis, Lower limb spastici... ORPHA:98889
Pelizaeus-Merzbacher Disease In Female Carriers
Spastic paraparesis, Hand apraxia, Difficulty walking, Inability to walk, Babinski sign, Lower li... ORPHA:280229
Syndromic Diarrhea
Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, Increased mean platelet volume ORPHA:84064
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Cerebrotendinous Xanthomatosis
Spasticity, Spastic paraparesis, Somatic sensory dysfunction, Resting tremor, Abnormality of extr... ORPHA:909
Neurodegeneration With Brain Iron Accumulation 5
Spastic paraparesis, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:300894
Leukocyte Adhesion Deficiency, Type Iii
Abnormality of thrombocytes, Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepato... OMIM:612840
Prune1-Related Neurological Syndrome
Tongue fasciculations, Spastic paraparesis, Inability to walk, Clonus, Spastic tetraparesis ORPHA:544469
Bleeding Disorder, Platelet-Type, 17
Myelofibrosis, Increased RBC distribution width, Absence of alpha granules, Thrombocytopenia, Mac... OMIM:187900
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Cervical lymphadenopathy, Lymphocytosis, Lymphadenopathy, Thrombo... OMIM:617718
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Paraplegia, Paraparesis, Hemiparesis ORPHA:79124
Thrombocytopenia 10
Decreased mean platelet volume, Thrombocytopenia OMIM:620484
Farber Disease
Spasticity, Paraparesis, Myoclonus ORPHA:333
Fatty Acid Hydroxylase-Associated Neurodegeneration
Falls, Progressive spastic paraplegia, Progressive spastic paraparesis, Loss of ambulation, Progr... ORPHA:329308
Congenital Disorder Of Glycosylation, Type Iif
Clinodactyly, Decreased platelet glycoprotein Ib, Thrombocytopenia, Neutropenia, Macrothrombocyto... OMIM:603585
Oculodentodigital Dysplasia
Spasticity, Paraparesis, Tetraparesis, Ataxia OMIM:164200
Purine Nucleoside Phosphorylase Deficiency
Spasticity, Spastic paraparesis, Cerebral palsy, Abnormal central motor function, Hypertonia, Ataxia ORPHA:760
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Metachromatic Leukodystrophy, Juvenile Form
Spasticity, Clumsiness, Progressive gait ataxia, Babinski sign, Decerebrate rigidity, Frequent fa... ORPHA:309263
Cataracts, Spastic Paraparesis, And Speech Delay
Spastic paraparesis OMIM:619338
Thrombocytopenia 1
Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia OMIM:313900
Lamb-Shaffer Syndrome
Upper motor neuron dysfunction, Abnormal social behavior, Ataxia ORPHA:530983
Combined Oxidative Phosphorylation Defect Type 7
Spastic paraparesis, Difficulty walking, Inability to walk, Distal sensory impairment, Impaired t... ORPHA:254930
Rift Valley Fever
Paralysis, Decerebrate rigidity, Paraparesis, Hemiparesis ORPHA:319251
Metachromatic Leukodystrophy, Adult Form
Spasticity, Difficulty walking, Chorea, Progressive gait ataxia, Progressive spastic quadriplegia... ORPHA:309271
Ovarian Fibroma
Abnormality of the ovary, Ovarian fibroma, Gonadal calcification ORPHA:314473
Leukodystrophy, Hypomyelinating, 3
Spastic paraparesis, Abnormal pyramidal sign, Appendicular spasticity OMIM:260600
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Incoordination, Spastic paraparesis, Overfriendliness, Ataxia ORPHA:369891
Ovarian Fibrothecoma
Abnormality of the ovary, Abnormal endometrium morphology, Gonadal calcification, Ovarian fibroma ORPHA:314478
Autosomal Recessive Spastic Paraplegia Type 55
Spasticity, Spastic paraparesis, Distal sensory impairment, Babinski sign, Lower limb spasticity,... ORPHA:320375
11Q22.2Q22.3 Microdeletion Syndrome
Abnormal social behavior ORPHA:444002
Sjogren-Larsson Syndrome
Spasticity, Spastic paraparesis OMIM:270200
Igg4-Related Pachymeningitis
Paraparesis, Somatic sensory dysfunction ORPHA:449427
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphope... ORPHA:276
Foix-Alajouanine Syndrome
Somatic sensory dysfunction, Progressive spastic paraparesis, Difficulty walking, Paresthesia, Ga... ORPHA:79093
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Unsteady gait, Spastic paraparesis, Hand tremor, Dysmetria ORPHA:3041
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Abnormal vagina morphology, Hypoplasia of the uterus, Brachydactyly ORPHA:247768
Hyperparathyroidism, Transient Neonatal
Thin ribs, Hyperparathyroidism, Fractured rib, Osteopenia, Metaphyseal spurs, Femoral bowing, Und... OMIM:618188
Autosomal Recessive Spastic Paraplegia Type 20
Impaired vibratory sensation, Spasticity, Spastic paraparesis, Speech apraxia, Ankle clonus, Babi... ORPHA:101000
Purine Nucleoside Phosphorylase Deficiency
Lymphopenia, Lymph node hypoplasia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in pre... OMIM:613179
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hypoplastic scapulae, Elevated circulating luteinizing hormone level, Clinodactyly, Abnormal fema... ORPHA:95699
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Spastic paraparesis, Difficulty walking, Action tremor, Rigidity, Gait disturbance, Hypertonia, T... ORPHA:309854
Fraser-Like Syndrome
Overlapping toe, Contracture of the proximal interphalangeal joint of the 2nd finger, Ovarian cyst OMIM:229230
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea... OMIM:301000
Bent Bone Dysplasia Syndrome 2
Thin ribs, Osteopenia, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic ili... OMIM:620076
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Spastic paraparesis, Hemiparesis, Gait disturbance, Lower limb spasticity, Ataxia, Upper motor ne... ORPHA:395
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior ORPHA:101039
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Polycystic ovaries ORPHA:2795
Bardet-Biedl Syndrome 1
Postaxial foot polydactyly, Radial deviation of finger, Abnormality of the ovary, Decreased testi... OMIM:209900
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Ataxia, Dysmetria, Abnormal pyramidal sign, Unsteady gait, Nonprogressive cerebellar ataxia, Inte... ORPHA:314647
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Broad-based gait, Spastic paraparesis ORPHA:391408
Agammaglobulinemia, X-Linked
Lymph node hypoplasia, Prostatitis, Neutropenia, B lymphocytopenia, Anemia, T lymphocytopenia, Ep... OMIM:300755
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Scheie Syndrome
Spastic paraparesis, Cerebral palsy ORPHA:93474
Childhood Absence Epilepsy
Limb myoclonus, Abnormal social behavior ORPHA:64280
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov... OMIM:277000
Argininemia
Spastic gait, Progressive spastic quadriplegia, Spastic paraparesis, Frequent falls OMIM:207800
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Spasticity, Spastic paraparesis, Myoclonus, Distal sensory impairment, Torticollis, Ataxia, Spast... OMIM:609136
Niemann-Pick Disease Type C
Cataplexy, Speech apraxia, Chorea, Myoclonus, Tremor, Progressive gait ataxia, Clumsiness, Abnorm... ORPHA:646
Epidermal Nevus Syndrome
Babinski sign, Hypertonia, Progressive spastic paraparesis ORPHA:35125
Adrenomyeloneuropathy
Spasticity, Progressive spastic paraparesis, Distal sensory impairment, Babinski sign, Spastic ga... ORPHA:139399
Eales Disease
Spastic paraparesis ORPHA:40923
Biotinidase Deficiency
Spastic paraparesis, Ataxia ORPHA:79241
48,Xxxy Syndrome
Abnormal social behavior, Tremor ORPHA:96263
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Hypoplasia of the vagina ORPHA:3109
Oculodentodigital Dysplasia
Spasticity, Spastic paraparesis, Gait disturbance, Ataxia ORPHA:2710
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Enlargement of the distal femoral epiphysis, Short toe, Abnormality of the ovary, Sho... ORPHA:99413
Turner Syndrome
Osteopenia, Enlargement of the distal femoral epiphysis, Short toe, Abnormality of the ovary, Sho... ORPHA:881
Mosaic Monosomy X
Osteopenia, Enlargement of the distal femoral epiphysis, Short toe, Abnormality of the ovary, Sho... ORPHA:99228
Monosomy X
Osteopenia, Enlargement of the distal femoral epiphysis, Short toe, Abnormality of the ovary, Sho... ORPHA:99226
Hypoplasminogenemia
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis ORPHA:722
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Spastic paraparesis OMIM:619234
Aicardi-Goutières Syndrome
Spasticity, Spastic paraparesis, Difficulty walking, Extrapyramidal muscular rigidity, Hemiplegia... ORPHA:51
Fg Syndrome Type 1
Broad-based gait, Abnormal social behavior ORPHA:93932
Craniorachischisis
Bifid sternum ORPHA:63260
Hurler Syndrome
Spastic paraparesis, Abnormal pyramidal sign, Cerebral palsy ORPHA:93473
Coffin-Lowry Syndrome
Bifid sternum, Uterine prolapse, Tapered finger, Drumstick terminal phalanges, Narrow iliac wing,... OMIM:303600
Dihydropyrimidine Dehydrogenase Deficiency
Inability to walk, Abnormal social behavior, Hypertonia ORPHA:1675
Say-Barber-Miller Syndrome
Babinski sign, Lower limb hypertonia, Spastic paraparesis, Ankle clonus ORPHA:3132
Prader-Willi Syndrome Due To Translocation
Abnormal social behavior, Reduced social reciprocity ORPHA:177907
Mend Syndrome
Limb hypertonia, Abnormal social behavior ORPHA:401973
Koolen-De Vries Syndrome Due To A Point Mutation
Speech apraxia, Inappropriate laughter, Abnormal social behavior, Overfriendliness ORPHA:363965
17Q21.31 Microdeletion Syndrome
Speech apraxia, Inappropriate laughter, Abnormal social behavior, Overfriendliness ORPHA:363958
Williams Syndrome
Spasticity, Involuntary movements, Gait imbalance, Dysmetria, Tremor, Abnormality of extrapyramid... ORPHA:904
Microphthalmia, Syndromic 2
Spastic paraparesis OMIM:300166
Tuberous Sclerosis Complex
Abnormal social behavior ORPHA:805

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.

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
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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