Gene Summary

Name:
G protein-coupled receptor associated sorting protein 2
Synonyms:
Prpl5,  GASP2,  5330440H13Rik

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
decreased bone mineral content Gprasp2em1(IMPC)J HOM   Early adult 9.23×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
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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.

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Electrocardiogram (ECG)

Waveform Image

15 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Forepaw

10 Images

Eye Morphology

Images Ophthalmoscopy

2 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Combined SHIRPA and Dysmorphology

Images

4 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Human diseases caused by Gprasp2 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.

The table below shows human diseases associated to Gprasp2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, X-Linked 7
OMIM:301018

The table below shows human diseases predicted to be associated to Gprasp2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cystic Angiomatosis Of Bone, Diffuse
Cystic angiomatosis of bone OMIM:123880
Intellectual Developmental Disorder, Autosomal Recessive 66
Gait ataxia, Attention deficit hyperactivity disorder, Aggressive behavior, Shyness OMIM:618221
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age, Hyperactivity, Spasticity, Aggressive behavior ORPHA:356996
Behavioral Variant Of Frontotemporal Dementia
Memory impairment, Motor stereotypy, Fasciculations, Mental deterioration, Emotional blunting, Ag... ORPHA:275864
Childhood Disintegrative Disorder
Impaired social interactions, Progressive language deterioration, Motor stereotypy, Anxiety, Deme... ORPHA:168782
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Foxg1 Syndrome
Impaired social interactions, Cognitive impairment, Decreased body weight, Choreoathetosis, Motor... ORPHA:561854
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Impaired social interactions, Self-injurious behavior, Stereotypical hand wringing, Hyperkinetic ... ORPHA:397933
Narcolepsy Type 1
Obesity, Cataplexy, Slurred speech, Transient global amnesia ORPHA:2073
Hereditary Geniospasm
Chin myoclonus, Abnormal social behavior ORPHA:53372
Cntnap2-Related Developmental And Epileptic Encephalopathy
Low frustration tolerance, Progressive language deterioration, Stereotypical hand wringing, Hyper... ORPHA:163681
Distal Osteosclerosis
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis OMIM:126250
Severe Intellectual Disability And Progressive Spastic Paraplegia
Progressive spastic paraplegia, Motor stereotypy, Spastic dysarthria, Overweight, Shyness, Spasti... ORPHA:280763
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Poor coordination, Aggressive behavior, Recurrent hand flapping, Stereotypical bod... OMIM:309548
Fraxe Intellectual Disability
Hyperactivity, Aggressive behavior, Recurrent hand flapping, Stereotypical body rocking, Clumsiness ORPHA:100973
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Atypical Rett Syndrome
Impaired social interactions, Pill-rolling tremor, Apraxia, Stereotypical hand wringing, Involunt... ORPHA:3095
Combined Oxidative Phosphorylation Deficiency 15
Incoordination, Abnormal pyramidal sign, Cognitive impairment, Obesity, Ataxia, Unsteady gait, Tr... OMIM:614947
Dopa-Responsive Dystonia
Parkinsonism, Abnormal social behavior, Anxiety, Inability to walk, Tremor, Panic attack, Poor co... ORPHA:255
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Stereotypical hand wringing, Failure to thrive, Spasticity, Irritability ORPHA:500545
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Parkinsonism, Resting tremor, Shuffling gait, Abnormal aggressive, impulsive or violent behavior,... ORPHA:3077
Bardet-Biedl Syndrome 12
Obesity, Cognitive impairment OMIM:615989
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Self-injurious behavior, Anxiety, Obesity, Aggressive behavior, Spe... OMIM:613670
Developmental And Epileptic Encephalopathy 97
Stereotypical hand wringing, Inability to walk, Tremor OMIM:619561
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Stereotypical hand wringing, Self-injurious behavior, Inability to walk, Chorea OMIM:618760
Juvenile Neuronal Ceroid Lipofuscinosis
Cognitive impairment, Parkinsonism, Myoclonic spasms, Progressive language deterioration, Motor s... ORPHA:79264
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Impaired social interactions, No social interaction, Obesity, Aggressive behavior ORPHA:329249
11Q22.2Q22.3 Microdeletion Syndrome
Abnormal social behavior, Anxiety, Obesity, Poor eye contact, Attention deficit hyperactivity dis... ORPHA:444002
Bardet-Biedl Syndrome 18
Obesity, Cognitive impairment OMIM:615995
Hsd10 Disease
Choreoathetosis, Abnormal social behavior, Spastic paraparesis, Ataxia, Rigidity, Gait disturbanc... ORPHA:391417
Intellectual Developmental Disorder, Autosomal Recessive 73
Gait ataxia, Irritability, Poor coordination, Recurrent hand flapping OMIM:619717
Primary Dystonia, Dyt13 Type
Action tremor, Motor stereotypy, Involuntary movements, Torticollis, Postural tremor ORPHA:98807
Late Infantile Neuronal Ceroid Lipofuscinosis
Cortical myoclonus, Low frustration tolerance, Motor stereotypy, Anxiety, Dementia, Motor deterio... ORPHA:168491
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Impaired social interactions, Motor stereotypy, Self-injurious behavior, Anxiety, Hyperactivity, ... ORPHA:449291
Early-Onset Autosomal Dominant Alzheimer Disease
Semantic dementia, Parkinsonism, Memory impairment, Abnormal social behavior, Apraxia, Dementia, ... ORPHA:1020
Cdkl5-Deficiency Disorder
Stereotypical hand wringing, Gait disturbance, Difficulty walking, Poor eye contact ORPHA:505652
Mehmo Syndrome
Spastic tetraparesis, Small for gestational age, Obesity, Inability to walk, Aggressive behavior,... OMIM:300148
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Motor stereotypy, Anxiety, Overweight, Self-mutilation, Gait disturbance, Upper limb spasticity, ... ORPHA:457240
Early-Onset Schizophrenia
Suicidal ideation, Lack of peer relationships, Cognitive impairment, No social interaction, Unhap... ORPHA:96369
Autism Spectrum Disorder Due To Auts2 Deficiency
Repetitive compulsive behavior, Small for gestational age, Motor stereotypy, Hyperactivity, Cereb... ORPHA:352490
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity, Cognitive impairment OMIM:619058
Spastic Paraplegia 11, Autosomal Recessive
Spastic gait, Obesity, Mental deterioration, Spastic paraplegia, Ataxia, Knee clonus, Lower limb ... OMIM:604360
Fragile X Syndrome
Recurrent hand flapping, Self-biting, Hyperactivity, Poor eye contact OMIM:300624
Syngap1-Related Developmental And Epileptic Encephalopathy
Impaired social interactions, Ataxia, Poor coordination, Recurrent hand flapping, Gait disturbanc... ORPHA:544254
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Cognitive impairment, Motor stereotypy, Anxiety, Ataxia, Emotional lability, Failure to thrive, P... ORPHA:927
Lamb-Shaffer Syndrome
Motor stereotypy, Abnormal social behavior, Hyperactivity, Ataxia, Upper motor neuron dysfunction ORPHA:530983
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Suicidal ideation, Cognitive impairment, Motor stereotypy, Anxiety, Involuntary movements, Attent... ORPHA:98784
Autosomal Recessive Non-Syndromic Intellectual Disability
Hyperactivity, Spasticity, Chorea, Motor stereotypy ORPHA:88616
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Recurrent hand flapping, Self-mutilation OMIM:615516
Christianson Syndrome
Motor stereotypy, Conspicuously happy disposition, Gait ataxia, Cachexia, Truncal ataxia ORPHA:85278
Obesity, Hyperphagia, And Developmental Delay
Obesity, Poor eye contact OMIM:613886
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Motor stereotypy, Inability to walk, Myoclonus, Poor eye contact ORPHA:411986
Intellectual Developmental Disorder, Autosomal Dominant 7
Incoordination, Happy demeanor, Small for gestational age, Failure to thrive in infancy, Stereoty... OMIM:614104
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic gait, Parkinsonism, Resting tremor, Choreoathetosis, Spastic tetraplegia, Apraxia, Shuffl... OMIM:300055
Metachromatic Leukodystrophy, Adult Form
Frequent falls, Memory impairment, Abnormal social behavior, Intention tremor, Dementia, Emotiona... ORPHA:309271
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Stereotypical hand wringing, Self-injurious behavior, Inability to walk, Gait ataxia, Spasticity,... OMIM:618917
Obesity Due To Sim1 Deficiency
Obesity, Cognitive impairment, Memory impairment, Attention deficit hyperactivity disorder ORPHA:369873
48,Xxyy Syndrome
Motor stereotypy, Anxiety, Obesity, Ataxia, Attention deficit hyperactivity disorder, Tall statur... ORPHA:10
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Hyperactivity, Aggressive behavior, Abnormal social behavior ORPHA:101039
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Anxiety, Obesity, Attention deficit hyperactivity disorder OMIM:618725
X-Linked Intellectual Disability, Hedera Type
Action tremor, Frequent falls, Dysmetria, Apraxia, Extrapyramidal muscular rigidity, Obesity, Ina... ORPHA:93952
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Happy demeanor, Hyperactivity, Obesity, Ataxia, Broad-based gait ORPHA:411515
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Repetitive compulsive behavior, Anxiety, Overweight, Failure to thrive, Spasticity, Oromotor apra... ORPHA:391372
Metachromatic Leukodystrophy, Juvenile Form
Frequent falls, Abnormal social behavior, Intention tremor, Emotional lability, Spasticity, Progr... ORPHA:309263
Ataxia-Oculomotor Apraxia Type 4
Obesity, Cognitive impairment, Oculomotor apraxia, Ataxia ORPHA:459033
Developmental And Speech Delay Due To Sox5 Deficiency
Motor stereotypy, Self-injurious behavior, Anxiety, Aggressive behavior, Attention deficit hypera... ORPHA:313892
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Happy demeanor, Hyperactivity, Obesity, Ataxia, Recurrent hand flapping, Tongue thrusting, Broad-... ORPHA:98794
Proximal 16P11.2 Microdeletion Syndrome
Impaired social interactions, Choreoathetosis, Motor stereotypy, Paroxysmal dyskinesia, Obesity, ... ORPHA:261197
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Progressive neurologic deterioration, Increased body weight, Tremor ORPHA:276608
Intellectual Developmental Disorder, X-Linked 107
Anxiety, Hyperactivity, Obesity, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:301013
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Happy demeanor, Opisthotonus, Choreoathetosis, Mood swings, Anxiety, Inability to walk, Limb hype... OMIM:619580
Marbach-Schaaf Neurodevelopmental Syndrome
Happy demeanor, Obesity, Aggressive behavior, Recurrent hand flapping, Speech apraxia, Attention ... OMIM:619680
Childhood Absence Epilepsy
Abnormal social behavior, Anxiety, Punding, Limb myoclonus, Attention deficit hyperactivity disorder ORPHA:64280
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Irritability, Hyperactivity, Aggressive behavior, Motor stereotypy ORPHA:391307
Distal Xq28 Microduplication Syndrome
Self-biting, Anxiety, Aggressive behavior, Poor eye contact, Tip-toe gait, Stereotypical body roc... ORPHA:293939
Angelman Syndrome Due To A Point Mutation
Happy demeanor, Obesity, Ataxia, Recurrent hand flapping, Tongue thrusting, Gait imbalance, Broad... ORPHA:411511
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Impaired social interactions, Obesity, Poor fine motor coordination, Poor eye contact ORPHA:254531
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Self-injurious behavior, Anxiety, Conspicuously happy disposition, Ataxia, Aggressive behavior, R... OMIM:300986
Bilateral Generalized Polymicrogyria
Eyelid myoclonus, Spastic tetraplegia, Motor stereotypy, Paroxysmal dyskinesia, Self-injurious be... ORPHA:208447
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Hyperactivity, Ataxia, Motor stereotypy ORPHA:228402
Angelman Syndrome
Happy demeanor, Self-injurious behavior, Anxiety, Obesity, Hyperactivity, Ataxia, Aggressive beha... ORPHA:72
Intellectual Developmental Disorder, X-Linked 98
Impaired social interactions, Self-biting, Stereotypical hand wringing, Anxiety, Hyperactivity, L... OMIM:300912
Inverted Duplicated Chromosome 15 Syndrome
Self-biting, Hyperactivity, Aggressive behavior, Motor stereotypy ORPHA:3306
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Parkinsonism, Memory impairment, Progressive language deteriorati... OMIM:607485
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Self-injurious behavior, Recurrent hand flapping OMIM:617268
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Repetitive compulsive behavior, Decreased body weight, Anxiety, Inability to walk, Lower limb spa... OMIM:300260
Morgagni-Stewart-Morel Syndrome
Suicidal ideation, Cognitive impairment, Action tremor, Memory impairment, Obesity ORPHA:77296
Metachromatic Leukodystrophy, Late Infantile Form
Frequent falls, Abnormal social behavior, Tip-toe gait, Emotional lability, Gait ataxia, Spastici... ORPHA:309256
Autosomal Dominant Non-Syndromic Intellectual Disability
Eyelid myoclonus, Motor stereotypy, Self-injurious behavior, Spasticity, Chorea ORPHA:178469
Autosomal Recessive Spastic Paraplegia Type 11
Parkinsonism, Memory impairment, Dementia, Obesity, Mental deterioration, Ataxia, Overweight, Ina... ORPHA:2822
4Q21 Microdeletion Syndrome
Self-injurious behavior, Tremor, Motor stereotypy ORPHA:238750
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Impaired social interactions, Spastic tetraplegia, Motor stereotypy, Spastic diplegia, Inability ... ORPHA:300570
48,Xxxy Syndrome
Abnormal social behavior, Abnormal aggressive, impulsive or violent behavior, Anxiety, Obesity, I... ORPHA:96263
Alazami Syndrome
Stereotypical hand wringing, Anxiety, Self-mutilation, Motor stereotypy ORPHA:319671
Aromatic L-Amino Acid Decarboxylase Deficiency
Choreoathetosis, Blepharospasm, Athetosis, Limb hypertonia, Emotional lability, Tongue thrusting,... OMIM:608643
Luscan-Lumish Syndrome
Anxiety, Obesity, Aggressive behavior, Shyness, Overgrowth, Slurred speech OMIM:616831
Smith-Magenis Syndrome
Failure to thrive in infancy, Motor stereotypy, Self-injurious behavior, Anxiety, Obesity, Gait d... ORPHA:819
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Self-biting, Repetitive compulsive behavior, Hemiballismus, Choreoathetosis, Motor stereotypy, At... ORPHA:522077
Rett Syndrome, Congenital Variant
Impaired social interactions, Apraxia, Athetosis, Poor eye contact, Tongue thrusting, Irritabilit... OMIM:613454
Developmental And Epileptic Encephalopathy 26
Stereotypical hand wringing OMIM:616056
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Spasticity, Recurrent hand flapping OMIM:618859
Insulinoma
Anxiety, Tremor, Increased body weight, Transient global amnesia ORPHA:97279
Rett Syndrome
Motor stereotypy, Stereotypical hand wringing, Bradykinesia, Inability to walk, Limb apraxia, Fai... ORPHA:778
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, Anxiety, Motor stereotypy ORPHA:397612
Choreoacanthocytosis
Aggressive behavior, Phonic tics, Apathy, Hair-pulling, Hyperkinetic movements, Involuntary movem... ORPHA:2388
Smith-Magenis Syndrome
Hyperactivity, Head-banging, Self-mutilation, Increased body weight OMIM:182290
Hypothyroidism, Congenital, Nongoitrous, 6
Broad-based gait, Increased body weight, Increased body mass index OMIM:614450
Niemann-Pick Disease Type C
Cognitive impairment, Abnormal social behavior, Cataplexy, Aggressive behavior, Apathy, Tremor, F... ORPHA:646
Central Precocious Puberty
Obesity, Increased body weight, Overgrowth ORPHA:759
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Motor stereotypy, Aggressive behavior, Gait ataxia, Failure to thrive, Self-mutilation, Attention... ORPHA:476126
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Motor stereotypy, Self-injurious behavior, Inability to walk, Limb hypertonia, Poor eye contact, ... ORPHA:457351
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Stereotypical hand wringing, Myoclonus, Small for gestational age, Hypertonia ORPHA:289266
22Q11.2 Duplication Syndrome
Anxiety, Attention deficit hyperactivity disorder, Motor stereotypy ORPHA:1727
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Abnormal pyramidal sign, Dysmetria, Memory impairment, Abnormal social behavior, Intention tremor... ORPHA:314647
Phelan-Mcdermid Syndrome
Impaired social interactions, Aggressive behavior, Poor eye contact, Tongue thrusting, Unsteady g... OMIM:606232
Wilson Disease
Aggressive behavior, Failure to thrive, Increased body weight, Clumsiness, Difficulty walking, We... ORPHA:905
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Myoclonic spasms, Motor stereotypy, Hyperactivity, Lower limb spasticity, Irritability, Clonus, H... ORPHA:447997
Leber Congenital Amaurosis 2
Eye poking OMIM:204100
Developmental And Epileptic Encephalopathy 87
Hypertonia, Recurrent hand flapping OMIM:618916
X-Linked Intellectual Disability, Cantagrel Type
Tetraparesis, Motor stereotypy ORPHA:85277
Wiedemann-Steiner Syndrome
Low frustration tolerance, Psychomotor deterioration, Motor stereotypy, Anxiety, Hyperactivity, A... ORPHA:319182
Prader-Willi Syndrome Due To Translocation
Impaired social interactions, Happy demeanor, Abnormal social behavior, Motor stereotypy, Anxiety... ORPHA:177907
7Q11.23 Microduplication Syndrome
Impaired social interactions, Dysmetria, Motor stereotypy, Self-injurious behavior, Anxiety, Obes... ORPHA:96121
Leber Congenital Amaurosis 1
Eye poking OMIM:204000
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Cognitive impairment, Violent behavior, Aggressive behavior, Clonus, Impaired social interactions... OMIM:619475
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Self-injurious behavior, Increased body weight, Aggressive behavior OMIM:300860
Nmda Receptor Encephalitis
Opisthotonus, Memory impairment, Choreoathetosis, Motor stereotypy, No social interaction, Anxiet... ORPHA:217253
Cystinosis
Gait disturbance, Abnormal pyramidal sign, Failure to thrive, Motor stereotypy ORPHA:213
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Low frustration tolerance, Motor stereotypy, Ataxia, Aggressive behavior, Unsteady gait ORPHA:457279
Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Progressive neurologic deterioration, Increased body weight, Tremor ORPHA:263455
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
White-Sutton Syndrome
Incoordination, Motor stereotypy, Self-injurious behavior, Hyperactivity, Obesity, Aggressive beh... ORPHA:468678
Microphthalmia-Brain Atrophy Syndrome
Tongue thrusting, Spasticity ORPHA:77299
Kohlschutter-Tonz Syndrome-Like
Decreased body weight, Stereotypical hand wringing, Obesity, Lower limb spasticity, Ataxia, Overw... OMIM:619229
Transketolase Deficiency
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy ORPHA:488618
Perrault Syndrome 4
Disproportionate tall stature, Obesity, Cognitive impairment, Gait ataxia OMIM:615300
2Q37 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Obesity, Motor stereotypy ORPHA:1001
5Q14.3 Microdeletion Syndrome
Motor stereotypy ORPHA:228384
Kleefstra Syndrome
Motor stereotypy, Self-injurious behavior, Obesity, Aggressive behavior, Self-mutilation ORPHA:261494
3P25.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Ataxia, Motor stereotypy ORPHA:435638
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Impaired social interactions, Motor stereotypy, Self-injurious behavior, Hyperactivity, Obesity, ... ORPHA:353281
Optic Atrophy-Intellectual Disability Syndrome
Repetitive compulsive behavior, Spasticity, Attention deficit hyperactivity disorder ORPHA:401777
Bainbridge-Ropers Syndrome
Hypertonia, Disproportionate tall stature, Inability to walk, Recurrent hand flapping ORPHA:352577
Pyruvate Carboxylase Deficiency
Abnormal pyramidal sign, Ataxia, Recurrent hand flapping, Apathy, Poor eye contact, Failure to th... ORPHA:3008
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Motor stereotypy ORPHA:500159
1P21.3 Microdeletion Syndrome
Self-injurious behavior, Obesity, Aggressive behavior, Shyness, Self-mutilation ORPHA:293948
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Cognitive impairment, Memory impairment, Emotional lability, Abdominal obesity, Increased body we... ORPHA:189427
21Q22.11Q22.12 Microdeletion Syndrome
Failure to thrive in infancy, Self-injurious behavior, Hyperactivity, Tongue thrusting, Stereotyp... ORPHA:261323
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Motor stereotypy, Fasciculations, Cataplexy, Ataxia, Tetraplegia, Progressive spasticity, Spasticity ORPHA:496641
Primary Pigmented Nodular Adrenocortical Disease
Cognitive impairment, Memory impairment, Emotional lability, Abdominal obesity, Increased body we... ORPHA:189439
Bainbridge-Ropers Syndrome
Self-injurious behavior, Inability to walk, Recurrent hand flapping, Failure to thrive, Dispropor... OMIM:615485
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Tongue thrusting, Gait imbalance, Broad-based gait ORPHA:98795
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Opisthotonus, Motor stereotypy, No social interaction, Inability to walk, Hypertonia ORPHA:508533
Pigmented Nodular Adrenocortical Disease, Primary, 4
Emotional lability, Increased body weight OMIM:615830
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Small for gestational age, Motor stereotypy, Anxiety, Failure to thrive, Gait disturbance, Attent... ORPHA:464311
Megalocornea-Intellectual Disability Syndrome
Ataxia, Motor stereotypy ORPHA:2479
Adrenocortical Carcinoma
Anxiety, Panic attack, Irritability, Increased body weight, Weight loss ORPHA:1501
Cushing Disease
Suicidal ideation, Memory impairment, Dementia, Fatiguable weakness of proximal limb muscles, Pan... ORPHA:96253
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Speech apraxia, Motor stereotypy ORPHA:529965
Dyrk1A-Related Intellectual Disability Syndrome
Small for gestational age, Motor stereotypy, Anxiety, Hyperactivity, Failure to thrive, Gait dist... ORPHA:464306
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Obesity, Aggressive behavior, Tongue thrusting, Failure to thrive, Hemiparesis, Broad-based gait ORPHA:369950
Fg Syndrome Type 1
Slender build, Attention deficit hyperactivity disorder, Broad-based gait, Abnormal social behavior ORPHA:93932
Foxg1 Syndrome Due To 14Q12 Microdeletion
Motor stereotypy ORPHA:261144
Magel2-Related Prader-Willi-Like Syndrome
Cognitive impairment, Failure to thrive, Abdominal obesity, Increased body weight, Skin-picking ORPHA:398069
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Abnormal pyramidal sign, Motor stereotypy, Self-injurious behavior, Severe failure to thrive, Spa... ORPHA:468631
Hydroxykynureninuria
Hypertonia, Motor stereotypy ORPHA:79155
Mucopolysaccharidosis Type 2
Cognitive impairment, Motor stereotypy, Hyperactivity, Mental deterioration, Aggressive behavior,... ORPHA:580
Tuberous Sclerosis Complex
Repetitive compulsive behavior, Abnormal social behavior, Self-injurious behavior, Anxiety, Hyper... ORPHA:805
Microcephaly 26, Primary, Autosomal Dominant
Stereotypical hand wringing, Failure to thrive, Spastic tetraparesis OMIM:619179
Sotos Syndrome
Tall stature, Poor coordination, Increased body weight, Overgrowth OMIM:117550
Dihydropyrimidine Dehydrogenase Deficiency
Abnormal social behavior, Abnormal aggressive, impulsive or violent behavior, Inability to walk, ... ORPHA:1675
Dilated Cardiomyopathy With Ataxia
Repetitive compulsive behavior, Action tremor, Lower limb spasticity, Ataxia ORPHA:66634
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Impaired social interactions, Motor stereotypy, Self-injurious behavior, Hyperactivity, Obesity, ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Impaired social interactions, Motor stereotypy, Self-injurious behavior, Hyperactivity, Obesity, ... ORPHA:353277
Mend Syndrome
Abnormal social behavior, Hyperactivity, Limb hypertonia, Aggressive behavior, Failure to thrive ORPHA:401973
Dpagt1-Cdg
Hypertonia, Inability to walk, Emotional blunting, Aggressive behavior, Ataxia, Akinesia, Failure... ORPHA:86309
Blue Diaper Syndrome
Increased body weight ORPHA:94086
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased body weight, Abdominal obesity OMIM:615954
Cardiofaciocutaneous Syndrome 1
Tongue thrusting, Oculomotor apraxia, Failure to thrive, Hypertonia OMIM:115150
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Repetitive compulsive behavior, Motor stereotypy, Gait ataxia, Failure to thrive, Stereotypical b... ORPHA:513456
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Failure to thrive in infancy, Small for gestational age, Stereotypical hand wringing, Anxiety, At... ORPHA:268261
Oculocerebrorenal Syndrome Of Lowe
Motor stereotypy, Self-injurious behavior, Anxiety, Failure to thrive, Clonus, Attention deficit ... ORPHA:534
Norrie Disease
Motor stereotypy, Self-injurious behavior, Anxiety, Failure to thrive, Irritability, Clonus, Cach... ORPHA:649
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Cushing Syndrome Due To Ectopic Acth Secretion
Suicidal ideation, Weight loss, Memory impairment, Anxiety, Dementia, Fatiguable weakness of prox... ORPHA:99889
1P36 Deletion Syndrome
Motor stereotypy, Self-injurious behavior, Obesity, Failure to thrive, Gait disturbance, Hemipleg... ORPHA:1606
Koolen-De Vries Syndrome Due To A Point Mutation
Small for gestational age, Slender build, Abnormal social behavior, Anxiety, Speech apraxia, Over... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Small for gestational age, Slender build, Abnormal social behavior, Anxiety, Speech apraxia, Over... ORPHA:363958
Trichotillomania
Hair-pulling OMIM:613229
Mgat2-Cdg
Stereotypical hand wringing, Failure to thrive ORPHA:79329
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Increased body weight ORPHA:264580
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Motor stereotypy ORPHA:508498
Monosomy 22Q13.3
Hair-pulling, Obesity, Hyperactivity ORPHA:48652
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Increased body weight ORPHA:79240
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Weight loss, Increased body weight, Decreased body weight ORPHA:2298
Williams Syndrome
Dysmetria, Failure to thrive in infancy, Abnormal social behavior, Anxiety, Involuntary movements... ORPHA:904
Mowat-Wilson Syndrome
Impaired social interactions, Happy demeanor, Decreased body weight, Motor stereotypy, Anxiety, I... ORPHA:2152
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Stereotypical hand wringing, Involuntary movements, Inability to walk, Broad-based gait, Exaggera... ORPHA:438213
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Low frustration tolerance, Failure to thrive, Tip-toe gait, Stereotypical body rocking, Falls, Br... OMIM:619503
Hellp Syndrome
Increased body weight ORPHA:244242
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Happy demeanor, Motor stereotypy, Inability to walk, Failure to thrive, Spasticity, Poor fine mot... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Happy demeanor, Motor stereotypy, Inability to walk, Failure to thrive, Spasticity, Poor fine mot... ORPHA:261552
Carney Complex
Tall stature, Increased body weight, Abdominal obesity ORPHA:1359
Deafness, X-Linked 7
OMIM:301018

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 Gprasp2

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 Gprasp2.

No publications found that use IMPC mice or data for Gprasp2.

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MGI Allele Allele Type Produced
Gprasp2em1(IMPC)H Intra-exon deletion Mice
Gprasp2em1(IMPC)J Intra-exon deletion Mice

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