Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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 1.74×10-05

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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.

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
Matching phenotypes Source
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL choles... OMIM:620058
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Familial Alzheimer-Like Prion Disease
Cognitive impairment, Deficit in phonologic short-term memory, Emotional lability, Depression, An... ORPHA:280397
Severe Primary Trimethylaminuria
Aggressive behavior, Anxiety, Emotional lability, Low self esteem, Depression, Negative affectivity ORPHA:468726
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Chorea, Benign Hereditary
Gait disturbance, Dementia, Anxiety OMIM:118700
Creutzfeldt-Jakob Disease
Gait ataxia, Apathy, Dementia, Depression, Anxiety, Irritability, Memory impairment OMIM:123400
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Huntington Disease-Like 2
Inertia, Anxiety, Apathy, Dementia, Depression, Subcortical dementia, Irritability, Memory impair... OMIM:606438
Epilepsy, Progressive Myoclonic, 12
Ataxia, Dysmetria, Difficulty walking, Depression, Anxiety, Mental deterioration OMIM:619191
Basal Ganglia Calcification, Idiopathic, 5
Cognitive impairment, Apathy, Dementia, Depression, Anxiety, Athetosis OMIM:615483
Obsessive-Compulsive Disorder
Skin-picking, Depression, Anxiety OMIM:164230
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inappropriate behavior, Frontotemporal dementia, Inertia, Falls, Shuffling gait, Motor deteriorat... ORPHA:412066
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Inappropriate behavior, Cognitive impairment, Ataxia, Depression, Anxiety, Memory impairment ORPHA:401901
Cholesterol-Ester Transfer Protein Deficiency
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... ORPHA:79506
Huntington Disease-Like 1
Aggressive behavior, Dementia, Dysmetria, Depression, Anxiety, Unsteady gait OMIM:603218
Parkinson Disease 6, Autosomal Recessive Early-Onset
Depression, Bradykinesia, Dementia, Anxiety OMIM:605909
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Hypotriglyceridemia, Hypocholesterolemia, H... OMIM:246700
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Falls, Apathy, Depression, Anxiety, Mental deterioration, Memory impairment, Bradykinesia ORPHA:240085
Frontal Encephalocele
Spina bifida, Hydrocephalus, Encephalocele ORPHA:1931
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Dementia, Dysmetria, Depression, Anxiety, Progressive cerebellar ataxia OMIM:604326
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Dystonia 12
Emotional lability, Depression, Anxiety, Unsteady gait, Bradykinesia OMIM:128235
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Increased VLDL cholesterol concentration, Elevated circulating apolipoprote... OMIM:144250
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Anencephaly, Hydrocephalus, Myelomeningocele OMIM:182940
Progressive Supranuclear Palsy
Cognitive impairment, Falls, Dementia, Abnormal synaptic transmission, Depression, Unsteady gait,... ORPHA:683
Spina bifida, Holoprosencephaly, Hydrocephalus ORPHA:945
Childhood Disintegrative Disorder
Abnormal emotion/affect behavior, Social and occupational deterioration, Anxiety, Motor deteriora... ORPHA:168782
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Anencephaly ORPHA:2476
Abnormal fear/anxiety-related behavior, Separation insecurity, Emotional lability, Depression, Ag... ORPHA:66624
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Decreased LDL cholesterol concentration, Decreased HDL cholesterol concentra... OMIM:616834
Isolated Hemihyperplasia
Myelomeningocele ORPHA:2128
Hypobetalipoproteinemia, Familial, 1
Decreased LDL cholesterol concentration, Steatorrhea, Decreased HDL cholesterol concentration, Hy... OMIM:615558
Spinal dysraphism, Myelomeningocele, Anencephaly, Sirenomelia, Cervical spina bifida ORPHA:63260
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Subependymal Nodular Heterotopia
Meningocele, Occipital encephalocele, Nasofrontal encephalocele, Myelomeningocele ORPHA:101030
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Abnormal aggressive,... ORPHA:3077
Schisis Association
Spina bifida, Anencephaly, Encephalocele ORPHA:63862
Perry Syndrome
Inappropriate behavior, Frontotemporal dementia, Suicidal ideation, Akinesia, Apathy, Short stepp... OMIM:168605
Nevus Comedonicus Syndrome
Spina bifida, Spina bifida occulta ORPHA:64754
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Wildervanck Syndrome
Meningocele ORPHA:3456
Chiari Malformation Type Ii
Spina bifida, Hydrocephalus, Myelomeningocele, Cervical myelopathy OMIM:207950
Caudal Duplication
Spina bifida, Myelomeningocele ORPHA:1756
Humero-Radial Synostosis
Meningocele ORPHA:3265
Thoraco-Abdominal Enteric Duplication
Meningocele ORPHA:1759
Early-Onset Schizophrenia
Diminished motivation, Abnormal emotion/affect behavior, Cognitive impairment, Suicidal ideation,... ORPHA:96369
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Meckel Syndrome, Type 2
Meningocele, Anencephaly, Encephalocele OMIM:603194
Meckel Syndrome, Type 4
Meningocele, Anencephaly, Hydrocephalus, Encephalocele OMIM:611134
Spina bifida, Sirenomelia ORPHA:3169
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Spinal dysraphism, Encephalocele, Anencephaly, Hydrocephalus, Holoprosencephaly ORPHA:1908
Peroxisome Biogenesis Disorder 3B
Hypocholesterolemia, Steatorrhea, Elevated circulating phytanic acid concentration OMIM:266510
Squalene Synthase Deficiency
Hypocholesterolemia, Increased circulating farnesol concentration, Decreased LDL cholesterol conc... OMIM:618156
Posterior Meningocele
Meningocele, Neural tube defect, Occipital meningocele, Hydrocephalus, Lipomyelomeningocele ORPHA:268810
Isolated Klippel-Feil Syndrome
Spina bifida ORPHA:2345
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear/anxiety-related behavior, Cognitive impairment, Anxiety ORPHA:309246
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Potocki-Lupski Syndrome
Hypocholesterolemia OMIM:610883
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Conjugated hyperbilirubinemia, Steatorrhea OMIM:607765
Chylomicron Retention Disease
Hypocholesterolemia, Hypertriglyceridemia, Steatorrhea ORPHA:71
Camptodactyly Syndrome, Guadalajara Type 1
Spina bifida ORPHA:1327
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Czeizel-Losonci Syndrome
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Spina bifida ORPHA:2437
Sacral Defect With Anterior Meningocele
Meningocele, Myelomeningocele, Hydrocephalus, Myeloschisis, Dermal sinus tract OMIM:600145
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:3376
Neurocutaneous Melanocytosis
Meningocele ORPHA:2481
Fountain Syndrome
Spina bifida occulta, Spina bifida ORPHA:3219
Joubert Syndrome 14
Meningocele, Hydrocephalus, Encephalocele OMIM:614424
Spinal dysraphism, Encephalocele, Myelomeningocele, Spina bifida, Anencephaly, Hydrocephalus, Hol... ORPHA:63259
Autosomal Recessive Spondylocostal Dysostosis
Meningocele, Spina bifida occulta, Umbilical hernia ORPHA:2311
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele ORPHA:2031
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Spina bifida ORPHA:1120
Amish Lethal Microcephaly
Spina bifida ORPHA:99742
Cerebrocostomandibular Syndrome
Meningocele, Hydranencephaly, Myelomeningocele, Spina bifida ORPHA:1393
Arnold-Chiari Malformation Type Ii
Meningocele, Hydrocephalus, Myelomeningocele, Aqueductal stenosis ORPHA:1136
Maternal Uniparental Disomy Of Chromosome 4
Hypocholesterolemia, Decreased LDL cholesterol concentration, Abetalipoproteinemia, Elevated circ... ORPHA:96180
Pelvis-Shoulder Dysplasia
Spina bifida, Hydranencephaly, Hydrocephalus ORPHA:2839
Acromelic Frontonasal Dysplasia
Meningocele, Encephalocele ORPHA:1827
Lumbar Syndrome
Spina bifida, Myelomeningocele ORPHA:83628
Decreased LDL cholesterol concentration, Hyperbilirubinemia, Abnormal circulating apolipoprotein ... ORPHA:14
Congenital Disorder Of Glycosylation, Type Ia
Hypocholesterolemia, Steatorrhea, Hypoalbuminemia OMIM:212065
Lateral Meningocele Syndrome
Meningocele, Umbilical hernia ORPHA:2789
Lateral Meningocele Syndrome
Meningocele, Hydrocephalus, Umbilical hernia OMIM:130720
Neu-Laxova Syndrome 2
Spina bifida OMIM:616038
Vacterl With Hydrocephalus
Spina bifida, Arrhinencephaly, Hydrocephalus, Aqueductal stenosis ORPHA:3412
Hypocholesterolemia, Hypoalbuminemia, Hyponatremia ORPHA:79324
Trisomy 20P
Spina bifida, Umbilical hernia ORPHA:261318
Waardenburg Syndrome, Type 1
Spina bifida, Myelomeningocele OMIM:193500
Phakomatosis Pigmentokeratotica
Spina bifida ORPHA:2874
Cloacal Exstrophy
Spina bifida, Myelomeningocele ORPHA:93929
Secondary Intestinal Lymphangiectasia
Decreased prealbumin level, Secondary hyperaldosteronism, Reduced circulating transferrin concent... ORPHA:90363
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia OMIM:244450
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele OMIM:601707
Tangier Disease
Hypocholesterolemia, Hypertriglyceridemia ORPHA:31150
Limb Body Wall Complex
Encephalocele, Myelomeningocele, Spina bifida, Short umbilical cord, Anencephaly, Hydrocephalus, ... ORPHA:2369
Pagod Syndrome
Meningocele, Encephalocele, Spina bifida ORPHA:991
Trisomy 18
Spina bifida, Anencephaly, Holoprosencephaly ORPHA:3380
Mosaic Trisomy 9
Spina bifida ORPHA:99776
Nail-Patella Syndrome
Spina bifida OMIM:161200
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Meningocele, Occipital encephalocele ORPHA:397715
Meningocele ORPHA:46059
Fibular Hemimelia
Spina bifida ORPHA:93323
Neu-Laxova Syndrome
Spina bifida ORPHA:2671
Dubowitz Syndrome
Hypocholesterolemia OMIM:223370
Focal Dermal Hypoplasia
Spina bifida, Umbilical hernia ORPHA:2092
Basal Cell Nevus Syndrome 1
Spina bifida, Hydrocephalus OMIM:109400
Hallermann-Streiff Syndrome
Spina bifida OMIM:234100
Orofaciodigital Syndrome Vi
Arrhinencephaly, Occipital meningocele OMIM:277170
Neurofibromatosis, Type I
Spina bifida, Hydrocephalus, Aqueductal stenosis OMIM:162200
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele ORPHA:1010
Phocomelia, Schinzel Type
Meningocele ORPHA:2879
Holoprosencephaly 7
Hydrocephalus, Semilobar holoprosencephaly, Alobar holoprosencephaly, Lobar holoprosencephaly, Ho... OMIM:610828
Split Cord Malformation
Meningocele, Myelomeningocele, Hydrocephalus, Cervical spina bifida, Lipomyelomeningocele ORPHA:573278
Smith-Lemli-Opitz Syndrome
Hypocholesterolemia, Elevated 7-dehydrocholesterol, Hypoalbuminemia OMIM:270400
22Q11.2 Deletion Syndrome
Meningocele, Spina bifida, Arrhinencephaly, Hydrocephalus, Occipital myelomeningocele, Umbilical ... ORPHA:567
Neu-Laxova Syndrome 1
Spina bifida, Short umbilical cord, Hydranencephaly, Stillbirth, Small placenta, Neonatal death OMIM:256520
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Spina bifida ORPHA:508498
Aicardi Syndrome
Spina bifida OMIM:304050
Jacobsen Syndrome
Spina bifida ORPHA:2308
Campomelic Dysplasia
Spina bifida, Spinal dysraphism, Hydrocephalus OMIM:114290
Thrombocytopenia-Absent Radius Syndrome
Spina bifida OMIM:274000
Koolen-De Vries Syndrome Due To A Point Mutation
Spina bifida, Hydrocephalus ORPHA:363965
17Q21.31 Microdeletion Syndrome
Spina bifida, Hydrocephalus ORPHA:363958
Fanconi Anemia
Spina bifida, Hydrocephalus, Umbilical hernia ORPHA:84
Knobloch Syndrome 1
Spina bifida occulta, Occipital encephalocele, Occipital meningocele OMIM:267750
Arima Syndrome
Occipital meningocele OMIM:243910
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Spina bifida OMIM:619480
Rubinstein-Taybi Syndrome 1
Spina bifida, Spina bifida occulta OMIM:180849
Marfan Syndrome
Meningocele ORPHA:558
Otopalatodigital Syndrome, Type Ii
Spina bifida, Hydrocephalus, Stillbirth, Umbilical hernia OMIM:304120
Vater/Vacterl Association
Spina bifida, Occipital encephalocele, Patent urachus OMIM:192350
Exstrophy-Epispadias Complex
Spina bifida, Hydrocephalus ORPHA:322
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Occipital meningocele OMIM:276820


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