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Gene: Cyfip2 MGI:1924134

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Gene Summary

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

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
preweaning lethality, complete penetrance Cyfip2tm1a(EUCOMM)Wtsi HOM   Early adult 0.00

Download data as:  TSV  XLS

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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 Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

15 Images

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X-ray

XRay Images Forepaw

15 Images

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X-ray

XRay Images Whole Body Lateral Orientation

15 Images

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X-ray

XRay Images Skull Lateral Orientation

16 Images

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Legacy Phenotype Associated Images
Cyfip2tm1a(EUCOMM)Wtsi
HET, Male, WTSI
Cyfip2tm1a(EUCOMM)Wtsi
HET, Male, WTSI
Cyfip2tm1a(EUCOMM)Wtsi
HET, Male, WTSI
Cyfip2tm1a(EUCOMM)Wtsi
HET, Male, WTSI
Cyfip2tm1a(EUCOMM)Wtsi
HET, Male, WTSI

View all 95 images

Cyfip2tm1a(EUCOMM)Wtsi
head, WT, Male, WTSI
Cyfip2tm1a(EUCOMM)Wtsi
abnormal coat/hair pigmentation, head, WT, Male, WTSI
Cyfip2tm1a(EUCOMM)Wtsi
hindlimb, HET, Female, WTSI
Cyfip2tm1a(EUCOMM)Wtsi
head, abnormal coat/hair pigmentation, WT, Male, WTSI
Cyfip2tm1a(EUCOMM)Wtsi
Fused cornea and lens, HET, Female, WTSI

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
Impulsivity, Tremor, Attention deficit hyperactivity disorder 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
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder, Depression OMIM:613003
Severe Primary Trimethylaminuria
Aggressive behavior, Anxiety, Emotional lability, Low self esteem, Depression, Negative affectivity ORPHA:468726
Dystonia 11, Myoclonic
Anxiety, Writer's cramp, Torticollis, Tremor, Depression, Panic attack, Agoraphobia, Alcoholism OMIM:159900
Familial Alzheimer-Like Prion Disease
Depression, Attention deficit hyperactivity disorder, Emotional lability, Anxiety ORPHA:280397
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response, Attention deficit hyperactivity disorder, Emotional lability OMIM:617028
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Schizophrenia 15
Hyperactivity OMIM:613950
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Pyknoachondrogenesis
Stillbirth OMIM:265880
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Panic Disorder 1
Anxiety OMIM:167870
Myoclonus-Dystonia Syndrome
Writer's cramp, Torticollis, Panic attack, Depression, Anxiety, Dystonia, Personality disorder ORPHA:36899
Obsessive-Compulsive Disorder
Skin-picking, Depression, Anxiety OMIM:164230
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Aggressive behavior, Self-injurious behavior, Anxiety OMIM:619031
Dystonia 12
Anxiety, Torticollis, Emotional lability, Tremor, Depression, Dysphagia, Dystonia OMIM:128235
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Pandas
Abnormal fear/anxiety-related behavior, Separation insecurity, Emotional lability, Impulsivity, A... ORPHA:66624
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Rapid-Onset Dystonia-Parkinsonism
Resting tremor, Anxiety, Limb dystonia, Torticollis, Emotional lability, Craniofacial dystonia, D... ORPHA:71517
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder, Emotional lability OMIM:234500
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Self-injurious behavior, Agitation OMIM:619970
Glycine Encephalopathy
Hyperactivity, Aggressive behavior, Impulsivity, Irritability, Restlessness OMIM:605899
Huntington Disease-Like 2
Inertia, Apathy, Action tremor, Depression, Anxiety, Irritability, Dystonia OMIM:606438
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Aggressive behavior, Hyperactivity, Abnormal aggressive, ... ORPHA:3077
Intellectual Developmental Disorder, X-Linked 109
Impulsivity, Hyperactivity, Aggressive behavior, Agitation OMIM:309548
Dystonia 28
Anxiety, Torticollis, Leg dystonia, Attention deficit hyperactivity disorder, Depression, Dysphag... ORPHA:589618
Epilepsy, Progressive Myoclonic, 12
Attention deficit hyperactivity disorder, Depression, Anxiety OMIM:619191
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Resting tremor, Depression, Anxiety OMIM:605909
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Agitation ORPHA:100973
Dystonia 26, Myoclonic
Blepharospasm, Anxiety, Torticollis, Laryngeal dystonia, Depression, Dystonia OMIM:616398
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Tremor OMIM:619470
Phenylketonuria
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Depression, Anxiety... OMIM:261600
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Aggressive behavior, Self-injurious behavior, Athetosis, Dystonia ORPHA:382
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Aggressive behavior, Choreoathetosis, Tremor, Dystonia OMIM:612716
Early-Onset Schizophrenia
Diminished motivation, Abnormal emotion/affect behavior, Suicidal ideation, Unhappy demeanor, Emo... ORPHA:96369
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
Hyperprolinemia, Type I
Hyperactivity, Aggressive behavior OMIM:239500
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Developmental And Epileptic Encephalopathy 43
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder OMIM:617113
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Hyperactivity, Aggressive behavior, Self-injurious behavior, Self-biting,... OMIM:619827
Lennox-Gastaut Syndrome
Hyperactivity, Aggressive behavior, Personality disorder ORPHA:2382
Stiff Person Spectrum Disorder
Agoraphobia, Exaggerated startle response, Emotional lability, Anxiety ORPHA:3198
Intellectual Developmental Disorder, Autosomal Dominant 67
Bipolar affective disorder, Attention deficit hyperactivity disorder, Hyperactivity OMIM:619927
Amyotrophic Lateral Sclerosis
Fatigable weakness of bulbar muscles, Motor neuron atrophy, Fatigable weakness of respiratory mus... ORPHA:803
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity, Aggressive behavior, Self-injurious behavior, Depression, Anxiety OMIM:619467
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear/anxiety-related behavior, Exaggerated startle response, Anx... ORPHA:309246
Choreoacanthocytosis
Progressive choreoathetosis, Aggressive behavior, Anxiety, Emotional lability, Self-mutilation of... OMIM:200150
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Aggressive behavior, Anxiety, Impulsivity, Abnormal eating behavior ORPHA:101039
Landau-Kleffner Syndrome
Hyperactivity, Aggressive behavior, Emotional lability, Impulsivity, Attention deficit hyperactiv... ORPHA:98818
Parkinson Disease 7, Autosomal Recessive Early-Onset
Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Anxiety OMIM:606324
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Paroxysmal bursts of laughter, Hyperactivity, Tremor, Self-injurious behavior OMIM:618718
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Juvenile Huntington Disease
Hyperactivity, Irritability, Dystonia, Depression ORPHA:248111
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Anxiety OMIM:301013
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Choreoathetosis, Hyperactivity, Aggressive behavior, Self-injurious behavior OMIM:620023
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Aggressive behavior, Impulsivity, Dysphagia, Dystonia ORPHA:500180
Stiff-Person Syndrome
Exaggerated startle response, Depression, Anxiety, Agoraphobia, Opisthotonus OMIM:184850
Adult-Onset Cervical Dystonia, Dyt23 Type
Writer's cramp, Torticollis, Focal dystonia, Head tremor, Axial dystonia, Craniofacial dystonia, ... ORPHA:420492
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Self-mutilation OMIM:615516
Aromatic L-Amino Acid Decarboxylase Deficiency
Exaggerated startle response, Blepharospasm, Limb dystonia, Torticollis, Choreoathetosis, Oculogy... OMIM:608643
Graves Disease, Susceptibility To, 1
Hyperactivity, Irritability, Polyphagia OMIM:275000
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Tay-Sachs Disease
Exaggerated startle response, Apathy OMIM:272800
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Aggressive behavior, Self-injurious behavior, Attention deficit hyperactivity diso... ORPHA:449291
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response, Depression OMIM:620114
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
X-Linked Creatine Transporter Deficiency
Hyperactivity, Athetosis, Dystonia, Self-mutilation ORPHA:52503
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Apathy, Dystonia OMIM:272750
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response, Irritability OMIM:616881
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Self-biting OMIM:618314
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Exaggerated startle response, Tremor, Agitation OMIM:618056
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Emotional lability, Impulsivity, Dysphagia, Dystonia, Intention tremor OMIM:610217
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Dystonia, Anxiety ORPHA:438216
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Tay-Sachs Disease
Exaggerated startle response, Anxiety, Tremor, Laryngeal dystonia, Dysphagia, Depression, Dystonia ORPHA:845
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Irritability OMIM:617864
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Familial Gestational Hyperthyroidism
Hyperactivity, Hand tremor, Agitation ORPHA:99819
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Dysphagia OMIM:617301
Choreoacanthocytosis
Hyperactivity, Aggressive behavior, Head-banging, Self-injurious behavior, Hair-pulling, Resting ... ORPHA:2388
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Hand tremor, Agitation ORPHA:424
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Plaa-Associated Neurodevelopmental Disorder
Impaired oropharyngeal swallow response, Exaggerated startle response, Dystonia ORPHA:521426
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Microcephaly 29, Primary, Autosomal Recessive
Hyperactivity, Emotional lability OMIM:620047
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Dysphagia OMIM:617527
Sandhoff Disease
Exaggerated startle response OMIM:268800
Histidinemia
Hyperactivity ORPHA:2157
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Dystonia ORPHA:79255
Non-Specific Early-Onset Epileptic Encephalopathy
Impulsivity, Tremor, Attention deficit hyperactivity disorder ORPHA:442835
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response OMIM:253800
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Attention deficit hyperactivity disorder, Dysphagia OMIM:619522
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Dystonia, Dysphagia ORPHA:438213
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 9 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
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
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 PMC6459510
Smaller Body Size, Early Postnatal Lethality, and Cortical Extracellular Matrix-Related Gene Expression Changes of Cyfip2-Null Embryonic Mice. Frontiers in molecular neuroscience (January 2018) Cyfip2tm1(KOMP)Vlcg PMC6338024
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Cyfip2tm1a(EUCOMM)Wtsi PMC5827107
Alzheimer-related decrease in CYFIP2 links amyloid production to tau hyperphosphorylation and memory loss. Brain : a journal of neurology (August 2016) Cyfip2tm1a(EUCOMM)Wtsi PMC5035822
Fragile X-like behaviors and abnormal cortical dendritic spines in cytoplasmic FMR1-interacting protein 2-mutant mice. Human molecular genetics (November 2014) Cyfip2tm1(KOMP)Vlcg PMC4355018
C57BL/6N mutation in cytoplasmic FMRP interacting protein 2 regulates cocaine response. Science (New York, N.Y.) (December 2013) Cyfip2tm1a(EUCOMM)Wtsi PMC4500108

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MGI Allele Allele Type Produced
Cyfip2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Cyfip2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Cyfip2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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