Gene Summary

Name:
cytoplasmic FMR1 interacting protein 2
Synonyms:
Pir121,  6430511D02Rik,  1500004I01Rik

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
preweaning lethality, complete penetrance Cyfip2tm1a(EUCOMM)Wtsi 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.

X-ray

XRay Images Whole Body Dorso Ventral

15 Images

X-ray

XRay Images Whole Body Lateral Orientation

15 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Skull Lateral Orientation

16 Images

X-ray

XRay Images Forepaw

15 Images

Legacy Phenotype Associated Images

View all 95 images

Human diseases caused by Cyfip2 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 Cyfip2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Non-Specific Early-Onset Epileptic Encephalopathy
Tremor, Ataxia, Impulsivity, Unsteady gait, Attention deficit hyperactivity disorder, Difficulty ... ORPHA:442835
Developmental And Epileptic Encephalopathy 65
OMIM:618008

The table below shows human diseases predicted to be associated to Cyfip2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Severe Primary Trimethylaminuria
Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity, Anxiety, Depression ORPHA:468726
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Familial Alzheimer-Like Prion Disease
Anxiety, Attention deficit hyperactivity disorder, Emotional lability, Depression ORPHA:280397
Autism, Susceptibility To, X-Linked 4
Aggressive behavior, Attention deficit hyperactivity disorder, Impulsivity OMIM:300830
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Mental Retardation, Autosomal Dominant 52
Hyperactivity, Anxiety OMIM:617796
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Developmental And Epileptic Encephalopathy 56
Ataxia, Attention deficit hyperactivity disorder, Broad-based gait, Anxiety OMIM:617665
Dystonia 11, Myoclonic
Writer's cramp, Agoraphobia, Torticollis, Tremor, Anxiety, Depression OMIM:159900
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Myoclonus-Dystonia Syndrome
Dystonia, Writer's cramp, Torticollis, Personality disorder, Panic attack, Anxiety, Depression ORPHA:36899
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Mental Retardation, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Pyknoachondrogenesis
Stillbirth OMIM:265880
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk, Irritability OMIM:616657
Mental Retardation, Autosomal Recessive 25
Anxiety OMIM:614346
Panic Disorder 1
Anxiety OMIM:167870
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Immunodeficiency 8
Hyperactivity OMIM:615401
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior, Anxiety OMIM:619031
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inappropriate behavior, Abnormal neuron morphology, Falls, Shuffling gait, Bradykinesia, Apathy, ... ORPHA:412066
Huntington Disease-Like 2
Dystonia, Apathy, Bradykinesia, Irritability, Action tremor, Anxiety, Depression OMIM:606438
Gilles De La Tourette Syndrome
Aggressive behavior, Attention deficit hyperactivity disorder, Self-mutilation OMIM:137580
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Ataxia, Anxiety, Attention deficit hyperactivity disorder, Depression, Difficulty walking OMIM:619191
Rapid-Onset Dystonia-Parkinsonism
Torticollis, Bradykinesia, Craniofacial dystonia, Resting tremor, Emotional lability, Anxiety, Ga... ORPHA:71517
Pandas
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... ORPHA:66624
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Bradykinesia, Resting tremor, Anxiety, Depression OMIM:605909
Spinocerebellar Ataxia 12
Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Action tremor, Head... OMIM:604326
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Inappropriate behavior, Tremor, Ataxia, Anxiety, Depression ORPHA:401901
Dystonia 12
Dystonia, Torticollis, Bradykinesia, Emotional lability, Unsteady gait, Anxiety, Depression OMIM:128235
Chorea, Benign Hereditary
Gait disturbance, Anxiety OMIM:118700
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Tremor, Hyperactivit... ORPHA:3077
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Glycine Encephalopathy
Aggressive behavior, Hyperactivity, Irritability, Impulsivity, Lethargy OMIM:605899
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:301008
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Dysmetria, Tremor, Hyperactivity, Inability to walk OMIM:618090
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Bradykinesia, Resting tremor, Anxiety, Blepharospasm, Leg dystonia OMIM:606324
Parkinsonism With Polyneuropathy
Anxiety, Resting tremor, Depression, Bradykinesia OMIM:619279
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Aggressive behavior, Impulsivity OMIM:604317
Huntington Disease-Like 1
Dysmetria, Aggressive behavior, Unsteady gait, Anxiety, Depression OMIM:603218
Stiff Person Spectrum Disorder
Agoraphobia, Falls, Exaggerated startle response, Emotional lability, Anxiety, Difficulty walking ORPHA:3198
Juvenile Huntington Disease
Dystonia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, Irritability, Broad... ORPHA:248111
Phenylketonuria
Aggressive behavior, Self-mutilation, Hyperactivity, Irritability, Anxiety, Attention deficit hyp... OMIM:261600
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Aggressive behavior, Impulsivity OMIM:309548
Dopa-Responsive Dystonia
Gait disturbance, Dystonia, Arm dystonia, Agoraphobia, Fatigable weakness, Tremor, Inability to w... ORPHA:255
Intellectual Developmental Disorder, X-Linked 104
Tremor, Hyperactivity, Aggressive behavior, Ataxia OMIM:300983
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Tremor, Hyperactivity, Aggressive behavior, Broad-based gait OMIM:619470
Spinocerebellar Ataxia 48
Dystonia, Dysmetria, Tremor, Ataxia, Irritability, Anxiety, Gait ataxia, Depression OMIM:618093
Fraxe Intellectual Disability
Hyperactivity, Aggressive behavior, Impulsivity ORPHA:100973
Mental Retardation, Autosomal Dominant 43
Hyperactivity, Anxiety, Impulsivity OMIM:616977
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Aggressive behavior, Tremor, Hyperactivity, Ataxia OMIM:612716
Hyperprolinemia, Type I
Hyperactivity, Aggressive behavior, Ataxia OMIM:239500
Dystonia 26, Myoclonic
Torticollis, Laryngeal dystonia, Depression, Anxiety, Blepharospasm OMIM:616398
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Dystonia, Hyperactivity, Ataxia OMIM:615924
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Perry Syndrome
Dystonia, Inappropriate behavior, Suicidal ideation, Apathy, Bradykinesia, Tremor, Short stepped ... OMIM:168605
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Chromosome 3Q29 Deletion Syndrome
Aggressive behavior, Hyperactivity, Anxiety, Gait ataxia OMIM:609425
Lennox-Gastaut Syndrome
Hyperactivity, Aggressive behavior, Falls, Personality disorder ORPHA:2382
Coffin-Siris Syndrome 8
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:618362
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Landau-Kleffner Syndrome
Steppage gait, Aggressive behavior, Hyperactivity, Emotional lability, Impulsivity, Anxiety, Atte... ORPHA:98818
Gm2 Gangliosidosis, Ab Variant
Dystonia, Abnormal fear/anxiety-related behavior, Inappropriate behavior, Exaggerated startle res... ORPHA:309246
Xq25 Microduplication Syndrome
Hyperactivity, Anxiety ORPHA:521258
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dystonia, Dysmetria, Aggressive behavior, Bradykinesia, Tremor, Ataxia, Dysdiadochokinesis, Anxie... OMIM:615157
Chromosome Xq25 Duplication Syndrome
Hyperactivity, Anxiety OMIM:300979
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Paroxysmal bursts of laughter, Self-injurious behavior, Tremor, Hyperactivity, Inability to walk OMIM:618718
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior OMIM:615541
Adult-Onset Cervical Dystonia, Dyt23 Type
Panic attack, Axial dystonia, Writer's cramp, Torticollis, Limb tremor, Focal dystonia, Craniofac... ORPHA:420492
Early-Onset Schizophrenia
Unhappy demeanor, Low self esteem, Suicidal ideation, Irritability, Anhedonia, Emotional lability... ORPHA:96369
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Aggressive behavior, Hyperactivity, Anxiety, Depression OMIM:619467
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Dystonia, Resting tremor, Anxiety OMIM:606703
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Cln5 Disease
Dysmetria, Aggressive behavior, Tremor, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ata... ORPHA:228360
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Anxiety OMIM:271980
Intellectual Developmental Disorder, X-Linked 107
Aggressive behavior, Hyperactivity, Attention deficit hyperactivity disorder, Anxiety OMIM:301013
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Happy demeanor, Inappropriate laughter, Hyperactivity, Ataxia, Broad-based gait ORPHA:411515
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Autosomal Recessive Non-Syndromic Intellectual Disability
Hyperactivity, Dystonia, Depression, Impulsivity ORPHA:88616
Guanidinoacetate Methyltransferase Deficiency
Athetosis, Dystonia, Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia ORPHA:382
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Fragile X Tremor/Ataxia Syndrome
Postural tremor, Dysmetria, Bradykinesia, Intention tremor, Impaired tandem gait, Resting tremor,... OMIM:300623
Female Restricted Epilepsy With Intellectual Disability
Aggressive behavior, Hyperactivity, Anxiety, Impulsivity ORPHA:101039
Intellectual Developmental Disorder, Autosomal Recessive 38
Unsteady gait, Hyperactivity, Aggressive behavior, Self-mutilation OMIM:615516
Clcn4-Related X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Aggressive behavior, Progressive cerebellar ataxia, Hyperactivity, Unste... ORPHA:485350
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Aggressive behavior OMIM:618342
Gand Syndrome
Hyperactivity, Inappropriate laughter OMIM:615074
Amyotrophic Lateral Sclerosis
Fatigable weakness of bulbar muscles, Motor neuron atrophy, Amyotrophic lateral sclerosis, Emotio... ORPHA:803
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Dystonia, Aggressive behavior, Hyperactivity, Inability to walk, Impulsivity, Gait ataxia ORPHA:500180
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Lethargy OMIM:274270
Ck Syndrome
Hyperactivity, Aggressive behavior, Irritability ORPHA:251383
Mental Retardation, Autosomal Recessive 61
Hyperactivity, Aggressive behavior OMIM:617773
Clark-Baraitser Syndrome
Hyperactivity, Aggressive behavior OMIM:617752
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Hyperactivity, Happy demeanor, Broad-based gait OMIM:617865
Aromatic L-Amino Acid Decarboxylase Deficiency
Athetosis, Torticollis, Limb tremor, Exaggerated startle response, Limb dystonia, Irritability, E... OMIM:608643
Ck Syndrome
Hyperactivity, Aggressive behavior, Irritability OMIM:300831
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Aggressive behavior, Broad-based gait ORPHA:457260
Stiff-Person Syndrome
Opisthotonus, Agoraphobia, Exaggerated startle response, Anxiety, Depression OMIM:184850
Intellectual Developmental Disorder, X-Linked 30
Aggressive behavior, Hyperactivity, Anxiety OMIM:300558
Adenylosuccinase Deficiency
Opisthotonus, Happy demeanor, Aggressive behavior, Self-mutilation, Inappropriate laughter, Hyper... OMIM:103050
Rasmussen Subacute Encephalitis
Hemidystonia, Hyperactivity, Inability to walk, Irritability, Emotional lability, Attention defic... ORPHA:1929
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity, Aggressive behavior OMIM:615824
Neurodegeneration With Brain Iron Accumulation 2B
Dystonia, Dysmetria, Bradykinesia, Intention tremor, Hyperactivity, Dysdiadochokinesis, Emotional... OMIM:610217
Graves Disease, Susceptibility To, 1
Hyperactivity, Irritability OMIM:275000
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Impulsivity OMIM:300143
Myoclonic-Astatic Epilepsy
Tremor, Hyperactivity, Ataxia, Unsteady gait, Attention deficit hyperactivity disorder, Abnormal ... ORPHA:1942
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Aggressive behavior OMIM:615286
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Optic Atrophy 11
Dysmetria, Hyperactivity, Ataxia OMIM:617302
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Mood swings, Aggressive behavior, Tremor, Hyperactivity, Gait ataxia OMIM:300354
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Hyperactivity, Ataxia, Gait ataxia, Limb dystonia ORPHA:363400
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Mental Retardation, Autosomal Dominant 7
Gait disturbance, Happy demeanor, Inappropriate laughter, Hyperactivity, Ataxia OMIM:614104
X-Linked Adrenoleukodystrophy
Gait disturbance, Aggressive behavior, Inappropriate sexual behavior, Hyperactivity, Disinhibitio... ORPHA:43
Gm2-Gangliosidosis, Ab Variant
Dystonia, Apathy, Exaggerated startle response OMIM:272750
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Aggressive behavior, Broad-based gait OMIM:300958
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Aggressive behavior, Hyperactivity, Irritability, Anxiety, Attention def... ORPHA:449291
Cntnap2-Related Developmental And Epileptic Encephalopathy
Skin-picking, Abnormal neuron morphology, Aggressive behavior, Self-mutilation, Hyperactivity, At... ORPHA:163681
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity, Self-biting OMIM:618314
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity, Aggressive behavior ORPHA:369939
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Exaggerated startle response, Ataxia, Broad-based gait, Anxiety ORPHA:438216
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Hyperactivity, Paroxysmal bursts of laughter, Ataxia ORPHA:228402
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Hyperactivity, Ataxia, Emotional lability, Impulsivity, Unsteady gait ORPHA:35069
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Gomez-Lopez-Hernandez Syndrome
Self-injurious behavior, Hyperactivity, Ataxia, Depression, Bipolar affective disorder OMIM:601853
Tay-Sachs Disease
Apathy, Exaggerated startle response OMIM:272800
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Happy demeanor, Inappropriate laughter, Tremor, Hyperactivity, Ataxia, Broad-base... ORPHA:98794
X-Linked Creatine Transporter Deficiency
Athetosis, Dystonia, Self-mutilation, Hyperactivity, Ataxia ORPHA:52503
Late Infantile Neuronal Ceroid Lipofuscinosis
Gait disturbance, Aggressive behavior, Hyperactivity, Inability to walk, Ataxia, Low frustration ... ORPHA:168491
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:600430
Spastic Tetraplegia And Axial Hypotonia, Progressive
Ataxia, Exaggerated startle response OMIM:618598
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Aggressive behavior, Irritability ORPHA:391307
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Intellectual Disability, Birk-Barel Type
Fatiguable weakness of proximal limb muscles, Hyperactivity, Fatigable weakness of skeletal muscles ORPHA:166108
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Aggressive behavior, Hyperactivity, Anxiety, Ataxia OMIM:618430
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Aggressive behavior, Self-biting ORPHA:3306
16P12.1P12.3 Triplication Syndrome
Skin-picking, Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Nail-biting ORPHA:485405
Tay-Sachs Disease
Gait disturbance, Dystonia, Dysmetria, Exaggerated startle response, Laryngeal dystonia, Tremor, ... ORPHA:845
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Aggressive behavior, Ataxia OMIM:610042
Cri-Du-Chat Syndrome
Aggressive behavior, Conspicuously happy disposition, Self-mutilation, Hyperactivity, Anxiety, Di... OMIM:123450
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Angelman Syndrome
Paroxysmal bursts of laughter, Limb tremor, Progressive gait ataxia, Hyperactivity, Broad-based gait OMIM:105830
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Difficulty walking, Exaggerated startle response ORPHA:320406
Angelman Syndrome
Happy demeanor, Self-injurious behavior, Aggressive behavior, Inappropriate laughter, Tremor, Hyp... ORPHA:72
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Attention deficit hyperactivity disorder OMIM:614294
Myopathy With Extrapyramidal Signs
Dystonia, Tremor, Hyperactivity, Ataxia, Difficulty walking OMIM:615673
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Hyperactivity, Self-mutilation, Low frustration tolerance, Inappropriate laughter ORPHA:363686
Non-Specific Early-Onset Epileptic Encephalopathy
Tremor, Ataxia, Impulsivity, Unsteady gait, Attention deficit hyperactivity disorder, Difficulty ... ORPHA:442835
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Gait ataxia, Low frustration tolerance, Self-mutilation OMIM:300486
Glass Syndrome
Hyperactivity, Aggressive behavior, Happy demeanor, Broad-based gait OMIM:612313
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Aggressive behavior OMIM:252920
13Q12.3 Microdeletion Syndrome
Hyperactivity, Self-mutilation ORPHA:412035
Choreoacanthocytosis
Self-injurious behavior, Oromandibular dystonia, Apathy, Irritability, Anxiety, Hair-pulling, Lin... ORPHA:2388
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperactivity, Aggressive behavior, Emotional lability, Low frustration tolerance OMIM:309520
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Citrullinemia Type Ii
Aggressive behavior, Tremor, Hyperactivity, Irritability, Lethargy ORPHA:247585
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Pediatric-Onset Graves Disease
Tremor, Hyperactivity, Irritability, Mood swings ORPHA:525731
47,Xyy Syndrome
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity ORPHA:8
Insensitivity To Pain, Congenital, With Anhidrosis
Emotional lability, Hyperactivity, Self-mutilation OMIM:256800
Neurodegeneration With Brain Iron Accumulation 1
Gait disturbance, Dystonia, Bradykinesia, Depression, Tremor, Hyperactivity, Ataxia, Akinesia, Bl... OMIM:234200
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
X-Linked Intellectual Disability, Cabezas Type
Tremor, Hyperactivity, Aggressive behavior, Broad-based gait ORPHA:85293
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity OMIM:619239
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Intellectual Developmental Disorder, X-Linked 98
Self-biting, Aggressive behavior, Hyperactivity, Ataxia, Anxiety OMIM:300912
Familial Gestational Hyperthyroidism
Hyperactivity, Hand tremor ORPHA:99819
X-Linked Cerebral Adrenoleukodystrophy
Gait disturbance, Dysmetria, Hyperactivity, Inability to walk, Ataxia, Difficulty walking ORPHA:139396
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Hand tremor ORPHA:424
Sandhoff Disease
Ataxia, Exaggerated startle response OMIM:268800
Argininemia
Hyperactivity, Spastic gait, Irritability OMIM:207800
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Histidinemia
Hyperactivity ORPHA:2157
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity OMIM:609727
Hyperlysinemia
Opisthotonus, Dysmetria, Tremor, Hyperactivity, Tip-toe gait ORPHA:2203
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Dysmetria, Aggressive behavior, Hyperactivity, Ataxia, Unsteady gait OMIM:614756
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Exaggerated startle response ORPHA:521426
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Dystonia, Violent behavior, Head titubation, Torticollis, Suicidal ideation, Aggressive behavior,... OMIM:619475
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Wiedemann-Steiner Syndrome
Aggressive behavior, Hyperactivity, Anxiety, Low frustration tolerance ORPHA:319182
Tuberous Sclerosis Complex
Self-injurious behavior, Aggressive behavior, Hyperactivity, Impulsivity, Anxiety, Attention defi... ORPHA:805
Early Infantile Epileptic Encephalopathy
Dystonia, Self-injurious behavior, Tremor, Hyperactivity, Episodic ataxia ORPHA:1934
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response OMIM:253800
Gm1 Gangliosidosis Type 1
Exaggerated startle response ORPHA:79255
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Legius Syndrome
Hyperactivity, Dystonia, Attention deficit hyperactivity disorder ORPHA:137605
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Hair-pulling, Irritability ORPHA:447997
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear/anxiety-related behavior, Agoraphobia, Self-injurious behavior, Aggressive behavior... ORPHA:353281
Hereditary Sensory And Autonomic Neuropathy Type 4
Self-mutilation, Hyperactivity, Impulsivity, Difficulty walking, Abnormal emotion/affect behavior... ORPHA:642
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Dystonia, Inability to walk, Exaggerated startle response, Broad-based gait ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Attention deficit hyperactivity disorder, Exaggerated startle response OMIM:619522
Developmental And Epileptic Encephalopathy 65
OMIM:618008

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 Cyfip2

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 Cyfip2.

There are 11 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Deficiency of the neurodevelopmental disorder-associated gene Cyfip2 alters the retinal ganglion cell properties and visual acuity. Human molecular genetics (February 2022) Cyfip2tm1a(EUCOMM)Wtsi PMC8863419
Alzheimer's disease-related dysregulation of mRNA translation causes key pathological features with ageing. Translational psychiatry (June 2020) Cyfip2tm1a(EUCOMM)Wtsi PMC7297996
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Cyfip2tm1a(EUCOMM)Wtsi PMC7263671
Differential cell-type-expression of CYFIP1 and CYFIP2 in the adult mouse hippocampus. Animal cells and systems (November 2019) Cyfip2tm1(KOMP)Vlcg PMC6913624
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Cyfip2tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Cyfip2tm1a(EUCOMM)Wtsi