Gene Summary

Name:
cytoplasmic FMR1 interacting protein 1
Synonyms:
Shyc,  l7Rl1,  l(7)1Rl,  pl-1,  P140SRA-1,  Sra-1,  E030028J09Rik

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 circulating HDL cholesterol level Cyfip1tm2a(EUCOMM)Wtsi HET Early adult 1.19×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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.

Legacy Phenotype Associated Images

View all 128 images

Human diseases caused by Cyfip1 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 Cyfip1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Cognitive impairment, Emotional lability, Anxiety, Atten... ORPHA:280397
Severe Primary Trimethylaminuria
Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity, Anxiety, Depression ORPHA:468726
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... ORPHA:79506
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Dementia, Inappropriate behavior, Apathy, Bradykinesia, Shuffling gait, Falls, Short stepped shuf... ORPHA:412066
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Developmental And Epileptic Encephalopathy 56
Anxiety, Attention deficit hyperactivity disorder, Ataxia, Broad-based gait OMIM:617665
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Ataxia, Mental deterioration, Anxiety, Attention deficit hyperactivity disorder, Depre... OMIM:619191
Myoclonus-Dystonia Syndrome
Dystonia, Writer's cramp, Torticollis, Personality disorder, Panic attack, Anxiety, Depression ORPHA:36899
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Inappropriate behavior, Cognitive impairment, Ataxia, Anxiety, Depression, Memory impai... ORPHA:401901
Creutzfeldt-Jakob Disease
Dementia, Apathy, Irritability, Anxiety, Gait ataxia, Depression, Memory impairment OMIM:123400
Huntington Disease-Like 2
Dystonia, Dementia, Apathy, Bradykinesia, Irritability, Anxiety, Depression OMIM:606438
Dystonia 11, Myoclonic
Writer's cramp, Agoraphobia, Torticollis, Anxiety, Depression OMIM:159900
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Dementia, Bradykinesia, Anxiety, Depression OMIM:605909
Huntington Disease-Like 1
Dementia, Dysmetria, Aggressive behavior, Unsteady gait, Anxiety, Depression OMIM:603218
Pandas
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... ORPHA:66624
Dystonia 12
Dystonia, Torticollis, Bradykinesia, Emotional lability, Unsteady gait, Anxiety, Depression OMIM:128235
Spinocerebellar Ataxia 12
Dementia, Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Anxiety, ... OMIM:604326
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity OMIM:619031
Progressive Supranuclear Palsy
Dystonia, Dementia, Cognitive impairment, Falls, Bradykinesia, Blepharospasm, Abnormal synaptic t... ORPHA:683
Chylomicron Retention Disease
Hypocholesterolemia, Hypotriglyceridemia, Steatorrhea, Hypoalbuminemia, Decreased LDL cholesterol... OMIM:246700
Chorea, Benign Hereditary
Anxiety, Gait disturbance OMIM:118700
Basal Ganglia Calcification, Idiopathic, 5
Athetosis, Dementia, Cognitive impairment, Apathy, Anxiety, Depression OMIM:615483
Rapid-Onset Dystonia-Parkinsonism
Torticollis, Bradykinesia, Craniofacial dystonia, Emotional lability, Anxiety, Gait ataxia, Depre... ORPHA:71517
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Dopa-Responsive Dystonia
Gait disturbance, Dystonia, Arm dystonia, Leg dystonia, Agoraphobia, Fatigable weakness, Inabilit... ORPHA:255
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... OMIM:144250
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus ORPHA:945
Spinocerebellar Ataxia 48
Dystonia, Dysmetria, Ataxia, Irritability, Mental deterioration, Anxiety, Gait ataxia, Depression OMIM:618093
Frontal Encephalocele
Spina bifida, Hydrocephalus ORPHA:1931
Childhood Disintegrative Disorder
Dementia, Social and occupational deterioration, Mental deterioration, Motor deterioration, Anxie... ORPHA:168782
Huntington Disease
Gait disturbance, Dystonia, Gait imbalance, Bradyphrenia, Suicidal ideation, Aggressive behavior,... ORPHA:399
Perry Syndrome
Dystonia, Inappropriate behavior, Suicidal ideation, Apathy, Bradykinesia, Short stepped shufflin... OMIM:168605
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Anencephaly ORPHA:2476
Early-Onset Schizophrenia
Unhappy demeanor, Low self esteem, Suicidal ideation, Cognitive impairment, Irritability, Anhedon... ORPHA:96369
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Hyperactivity, Irrit... ORPHA:3077
Dystonia 26, Myoclonic
Torticollis, Blepharospasm, Laryngeal dystonia, Anxiety, Depression OMIM:616398
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dystonia, Dysmetria, Aggressive behavior, Cognitive impairment, Bradykinesia, Ataxia, Dysdiadocho... OMIM:615157
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Craniorachischisis
Sirenomelia, Myelomeningocele, Anencephaly, Cervical spina bifida, Spinal dysraphism ORPHA:63260
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Decreased LDL cholesterol concentration OMIM:616834
Nevus Comedonicus Syndrome
Spina bifida, Spina bifida occulta ORPHA:64754
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Choreoacanthocytosis
Dystonia, Dementia, Aggressive behavior, Self-mutilation of tongue and lips due to involuntary mo... OMIM:200150
Caudal Duplication
Spina bifida, Myelomeningocele ORPHA:1756
Gm2 Gangliosidosis, Ab Variant
Dystonia, Abnormal fear/anxiety-related behavior, Inappropriate behavior, Cognitive impairment, A... ORPHA:309246
Young-Onset Parkinson Disease
Dystonia, Dementia, Gait imbalance, Cognitive impairment, Frontal lobe dementia, Apathy, Bradykin... ORPHA:2828
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Schisis Association
Spina bifida, Anencephaly ORPHA:63862
Parkinson Disease 7, Autosomal Recessive Early-Onset
Anxiety, Leg dystonia, Blepharospasm, Bradykinesia OMIM:606324
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Chiari Malformation Type Ii
Spina bifida, Hydrocephalus, Myelomeningocele OMIM:207950
Squalene Synthase Deficiency
Hypocholesterolemia, Decreased LDL cholesterol concentration, Increased circulating farnesol conc... OMIM:618156
Peroxisome Biogenesis Disorder 3B
Hypocholesterolemia, Steatorrhea OMIM:266510
Isolated Klippel-Feil Syndrome
Spina bifida ORPHA:2345
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Cervical spina bifida OMIM:600122
Amish Lethal Microcephaly
Spina bifida ORPHA:99742
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Steatorrhea, Hyperbilirubinemia OMIM:607765
Camptodactyly Syndrome, Guadalajara Type 1
Spina bifida ORPHA:1327
Potocki-Lupski Syndrome
Hypocholesterolemia OMIM:610883
Alg3-Cdg
Neural tube defect ORPHA:79321
Czeizel-Losonci Syndrome
Spina bifida, Hydrocephalus, Myelomeningocele, Spina bifida occulta ORPHA:2437
Chylomicron Retention Disease
Hypocholesterolemia, Steatorrhea ORPHA:71
Posterior Meningocele
Meningocele, Occipital meningocele, Neural tube defect, Hydrocephalus, Lipomyelomeningocele ORPHA:268810
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Fountain Syndrome
Spina bifida, Spina bifida occulta ORPHA:3219
Maternal Uniparental Disomy Of Chromosome 4
Elevated circulating creatine kinase concentration, Decreased LDL cholesterol concentration, Hypo... ORPHA:96180
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Spina bifida ORPHA:1120
Iniencephaly
Myelomeningocele, Anencephaly, Holoprosencephaly, Spina bifida, Hydrocephalus, Spinal dysraphism ORPHA:63259
Cerebrocostomandibular Syndrome
Meningocele, Spina bifida, Myelomeningocele, Hydranencephaly ORPHA:1393
Pelvis-Shoulder Dysplasia
Spina bifida, Hydrocephalus, Hydranencephaly ORPHA:2839
Lumbar Syndrome
Spina bifida, Myelomeningocele ORPHA:83628
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Hypocholesterolemia, Abnormal circulating apolipoprotein... ORPHA:14
Congenital Disorder Of Glycosylation, Type Ia
Hypocholesterolemia, Hypoalbuminemia OMIM:212065
Trisomy 20P
Spina bifida, Umbilical hernia ORPHA:261318
Vacterl With Hydrocephalus
Arrhinencephaly, Spina bifida, Hydrocephalus, Aqueductal stenosis ORPHA:3412
Alg12-Cdg
Hypocholesterolemia, Hyponatremia, Hypoalbuminemia ORPHA:79324
Waardenburg Syndrome, Type 1
Spina bifida, Myelomeningocele OMIM:193500
Secondary Intestinal Lymphangiectasia
Decreased prealbumin level, Reduced circulating transferrin concentration, Hypocholesterolemia, S... ORPHA:90363
Cloacal Exstrophy
Spina bifida, Myelomeningocele ORPHA:93929
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia OMIM:244450
Tangier Disease
Hypocholesterolemia, Hypertriglyceridemia ORPHA:31150
Mosaic Trisomy 9
Spina bifida ORPHA:99776
Trisomy 18
Holoprosencephaly, Spina bifida, Anencephaly ORPHA:3380
Fibular Hemimelia
Spina bifida ORPHA:93323
Nail-Patella Syndrome
Spina bifida OMIM:161200
Neu-Laxova Syndrome
Spina bifida ORPHA:2671
Basal Cell Nevus Syndrome
Spina bifida, Hydrocephalus OMIM:109400
Focal Dermal Hypoplasia
Spina bifida, Umbilical hernia ORPHA:2092
Limb Body Wall Complex
Short umbilical cord, Myelomeningocele, Anencephaly, Spina bifida, Hydrocephalus, Spina bifida oc... ORPHA:2369
Pagod Syndrome
Meningocele, Spina bifida ORPHA:991
Hallermann-Streiff Syndrome
Spina bifida OMIM:234100
Neurofibromatosis, Type I
Spina bifida, Hydrocephalus, Aqueductal stenosis OMIM:162200
Neu-Laxova Syndrome 1
Short umbilical cord, Hydranencephaly, Stillbirth, Small placenta, Spina bifida OMIM:256520
Smith-Lemli-Opitz Syndrome
Hypocholesterolemia, Elevated 7-dehydrocholesterol OMIM:270400
Thrombocytopenia-Absent Radius Syndrome
Spina bifida OMIM:274000
22Q11.2 Deletion Syndrome
Meningocele, Arrhinencephaly, Occipital myelomeningocele, Spina bifida, Hydrocephalus, Umbilical ... ORPHA:567
Aicardi Syndrome
Spina bifida OMIM:304050
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Spina bifida ORPHA:508498
Jacobsen Syndrome
Spina bifida ORPHA:2308
Fanconi Anemia
Spina bifida, Hydrocephalus, Umbilical hernia ORPHA:84
Koolen-De Vries Syndrome Due To A Point Mutation
Spina bifida, Hydrocephalus ORPHA:363965
17Q21.31 Microdeletion Syndrome
Spina bifida, Hydrocephalus ORPHA:363958
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Spina bifida OMIM:619480
Schinzel-Giedion Syndrome
Umbilical hernia, Neural tube defect ORPHA:798
Semilobar Holoprosencephaly
Hydrocephalus, Neural tube defect ORPHA:220386
Alobar Holoprosencephaly
Hydrocephalus, Neural tube defect ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Hydrocephalus, Neural tube defect ORPHA:93926
Lobar Holoprosencephaly
Hydrocephalus, Neural tube defect ORPHA:93924
Split Cord Malformation
Meningocele, Myelomeningocele, Hydrocephalus, Cervical spina bifida, Lipomyelomeningocele ORPHA:573278
Exstrophy-Epispadias Complex
Spina bifida, Hydrocephalus ORPHA:322
Vater/Vacterl Association
Patent urachus, Spina bifida OMIM:192350

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 Cyfip1

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 Cyfip1.

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

Title Journal IMPC Allele PubMed ID
Complex Interactions between Genes and Social Environment Cause Phenotypes Associated with Autism Spectrum Disorders in Mice. eNeuro (July 2020) Cyfip1tm1a(KOMP)Mbp PMC7418534
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Cyfip1tm2a(EUCOMM)Wtsi PMC7263671
Platelet lamellipodium formation is not required for thrombus formation and stability. Blood (December 2019) Cyfip1tm2c(EUCOMM)Wtsi Cyfip1tm2a(EUCOMM)Wtsi 31697813
Cyfip1 Haploinsufficiency Increases Compulsive-Like Behavior and Modulates Palatable Food Intake in Mice: Dependence on Cyfip2 Genetic Background, Parent-of Origin, and Sex. G3 (Bethesda, Md.) (September 2019) Cyfip1tm2a(EUCOMM)Wtsi PMC6723122
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Cyfip1tm2a(EUCOMM)Wtsi PMC6671969
Cyfip1 Haploinsufficiency Does Not Alter GABAA Receptor δ-Subunit Expression and Tonic Inhibition in Dentate Gyrus PV+ Interneurons and Granule Cells. eNeuro (May 2019) Cyfip1tm2a(EUCOMM)Wtsi Cyfip1tm2a(EUCOMM)Wtsi/ PMC6635810
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Cyfip1tm2a(EUCOMM)Wtsi PMC6459510
Autism and Schizophrenia-Associated CYFIP1 Regulates the Balance of Synaptic Excitation and Inhibition. Cell reports (February 2019) Cyfip1tm2c(EUCOMM)Wtsi Cyfip1tm2a(EUCOMM)Wtsi PMC6381785
Behavioral training rescues motor deficits in Cyfip1 haploinsufficiency mouse model of autism spectrum disorders. Translational psychiatry (January 2019) Cyfip1tm2a(EUCOMM)Wtsi PMC6341103
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Cyfip1tm2a(EUCOMM)Wtsi Cyfip1tm2a(EUCOMM)Wtsi PMC5827107
Ndrg3 gene regulates DSB repair during meiosis through modulation the ERK signal pathway in the male germ cells. Scientific reports (March 2017) Cyfip1tm2a(EUCOMM)Wtsi PMC5349515

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.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Cyfip1tm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Cyfip1tm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells
Cyfip1tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Cyfip1tm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter