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

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.

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, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Emotional lability, Ob... ORPHA:66624
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Delirium, Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Progressive Supranuclear Palsy
Memory impairment, Falls, Depression, Emotional lability, Irritability, Cognitive impairment, Uns... ORPHA:683
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Chylomicron Retention Disease
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Decreased LDL cholesterol concentratio... OMIM:246700
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Shuffling gait, Broad-based gait, Abnormal fear-induced behavior, Irritability, Aggressive behavi... ORPHA:3077
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Spina bifida ORPHA:2476
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Decreased LDL cholesterol concentration, Decreased HDL cholesterol concentra... OMIM:616834
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL cholesterol concentra... OMIM:615558
Isolated Hemihyperplasia
Myelomeningocele ORPHA:2128
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly ORPHA:63260
Subependymal Nodular Heterotopia
Myelomeningocele, Meningocele, Occipital encephalocele, Nasofrontal encephalocele ORPHA:101030
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Schisis Association
Anencephaly, Encephalocele, Spina bifida ORPHA:63862
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Difficulty walking, Confusion, Delirium, Restlessness... ORPHA:100924
Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Cervical myelopathy, Spina bifida OMIM:207950
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
Wildervanck Syndrome
Meningocele ORPHA:3456
Humero-Radial Synostosis
Meningocele ORPHA:3265
Thoraco-Abdominal Enteric Duplication
Meningocele ORPHA:1759
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
Hydrocephalus, Meningocele, Anencephaly, Encephalocele OMIM:611134
Sirenomelia, Spina bifida ORPHA:3169
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Encephalocele, Hydrocephalus, Meningocele, Holoprosencephaly, Anencephaly ORPHA:1908
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior, Cognitive impairment ORPHA:309246
Peroxisome Biogenesis Disorder 3B
Steatorrhea, Elevated circulating phytanic acid concentration, Hypocholesterolemia OMIM:266510
Isolated Klippel-Feil Syndrome
Spina bifida ORPHA:2345
Potocki-Lupski Syndrome
Hypocholesterolemia OMIM:610883
Intellectual Developmental Disorder, Autosomal Dominant 72
Spina bifida OMIM:620439
Squalene Synthase Deficiency
Hypocholesterolemia, Decreased LDL cholesterol concentration, Elevated circulating methylsuccinic... OMIM:618156
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Hypocholesterolemia, Conjugated hyperbilirubinemia OMIM:607765
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neural tube defect ORPHA:268810
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Hypocholesterolemia OMIM:608776
Camptodactyly Syndrome, Guadalajara Type 1
Spina bifida ORPHA:1327
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Czeizel-Losonci Syndrome
Myelomeningocele, Spina bifida occulta, Spina bifida, Hydrocephalus ORPHA:2437
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Sacral Defect With Anterior Meningocele
Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal sinus tract OMIM:600145
Chylomicron Retention Disease
Steatorrhea, Hypocholesterolemia ORPHA:71
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:3376
Neurocutaneous Melanocytosis
Meningocele ORPHA:2481
Fountain Syndrome
Spina bifida occulta, Spina bifida ORPHA:3219
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Amish Lethal Microcephaly
Spina bifida ORPHA:99742
Joubert Syndrome 14
Hydrocephalus, Meningocele, Encephalocele OMIM:614424
Spinal dysraphism, Myelomeningocele, Encephalocele, Spina bifida, Hydrocephalus, Holoprosencephal... ORPHA:63259
Autosomal Recessive Spondylocostal Dysostosis
Spina bifida occulta, Meningocele, Umbilical hernia ORPHA:2311
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele ORPHA:2031
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Spina bifida ORPHA:1120
Fliedner-Zweier Syndrome
Meningocele OMIM:620511
Cerebrocostomandibular Syndrome
Myelomeningocele, Hydranencephaly, Spina bifida, Meningocele ORPHA:1393
Maternal Uniparental Disomy Of Chromosome 4
Hypocholesterolemia, Decreased LDL cholesterol concentration, Abetalipoproteinemia, Elevated circ... ORPHA:96180
Pelvis-Shoulder Dysplasia
Hydrocephalus, Hydranencephaly, Spina bifida ORPHA:2839
Acromelic Frontonasal Dysplasia
Meningocele, Encephalocele ORPHA:1827
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Abnormal circulating apolipoprotein co... ORPHA:14
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Hypocholesterolemia, Steatorrhea OMIM:212065
Lateral Meningocele Syndrome
Meningocele, Umbilical hernia ORPHA:2789
Neu-Laxova Syndrome 2
Spina bifida OMIM:616038
Lateral Meningocele Syndrome
Meningocele, Hydrocephalus, Umbilical hernia OMIM:130720
Hyponatremia, Hypocholesterolemia, Hypoalbuminemia ORPHA:79324
Chromosome 17P13.1 Deletion Syndrome
Hydrocephalus, Spina bifida, Umbilical hernia OMIM:613776
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Emotional lability OMIM:219090
Trisomy 20P
Spina bifida, Umbilical hernia ORPHA:261318
Phakomatosis Pigmentokeratotica
Spina bifida ORPHA:2874
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Hyp... ORPHA:90363
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Vacterl With Hydrocephalus
Hydrocephalus, Aqueductal stenosis, Spina bifida ORPHA:3412
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia OMIM:244450
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele OMIM:601707
Limb Body Wall Complex
Myelomeningocele, Encephalocele, Short umbilical cord, Spina bifida, Hydrocephalus, Spina bifida ... ORPHA:2369
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Meningocele, Occipital encephalocele ORPHA:397715
Tangier Disease
Hypocholesterolemia, Hypertriglyceridemia ORPHA:31150
Pagod Syndrome
Meningocele, Encephalocele, Spina bifida ORPHA:991
Trisomy 18
Holoprosencephaly, Anencephaly, Spina bifida ORPHA:3380
Mosaic Trisomy 9
Spina bifida ORPHA:99776
Nail-Patella Syndrome
Spina bifida OMIM:161200
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Anencephaly, Hydrocephalus, Occipital meningocele OMIM:616546
Meningocele ORPHA:46059
Dubowitz Syndrome
Hypocholesterolemia OMIM:223370
Fibular Hemimelia
Spina bifida ORPHA:93323
Neu-Laxova Syndrome
Spina bifida ORPHA:2671
Focal Dermal Hypoplasia
Spina bifida, Umbilical hernia ORPHA:2092
Basal Cell Nevus Syndrome 1
Hydrocephalus, Spina bifida OMIM:109400
Hallermann-Streiff Syndrome
Spina bifida OMIM:234100
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... ORPHA:353281
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele ORPHA:1010
Phocomelia, Schinzel Type
Meningocele ORPHA:2879
Holoprosencephaly 7
Alobar holoprosencephaly, Semilobar holoprosencephaly, Hydrocephalus, Holoprosencephaly, Occipita... OMIM:610828
Neurofibromatosis, Type I
Hydrocephalus, Aqueductal stenosis, Spina bifida OMIM:162200
Smith-Lemli-Opitz Syndrome
Hypoalbuminemia, Hypocholesterolemia, Elevated circulating 7-dehydrocholesterol concentration OMIM:270400
Neu-Laxova Syndrome 1
Hydranencephaly, Small placenta, Short umbilical cord, Neonatal death, Spina bifida, Stillbirth OMIM:256520
Orofaciodigital Syndrome Vi
Occipital meningocele OMIM:277170
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Spina bifida ORPHA:508498
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... ORPHA:353277
Aicardi Syndrome
Spina bifida OMIM:304050
Campomelic Dysplasia
Hydrocephalus, Spinal dysraphism, Spina bifida OMIM:114290
Jacobsen Syndrome
Spina bifida ORPHA:2308
22Q11.2 Deletion Syndrome
Hydrocephalus, Meningocele, Spina bifida, Umbilical hernia ORPHA:567
Knobloch Syndrome 1
Spina bifida occulta, Occipital encephalocele, Occipital meningocele OMIM:267750
Koolen-De Vries Syndrome Due To A Point Mutation
Hydrocephalus, Spina bifida ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hydrocephalus, Spina bifida ORPHA:363958
Fanconi Anemia
Hydrocephalus, Spina bifida, Umbilical hernia ORPHA:84
Thrombocytopenia-Absent Radius Syndrome
Spina bifida OMIM:274000
Cutis Laxa, Autosomal Recessive, Type Ib
Spina bifida, Neonatal death OMIM:614437
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Spina bifida OMIM:619480
Arima Syndrome
Occipital meningocele OMIM:243910
Vater/Vacterl Association
Patent urachus, Occipital encephalocele, Spina bifida OMIM:192350
Rubinstein-Taybi Syndrome 1
Spina bifida occulta, Spina bifida OMIM:180849
Holoprosencephaly 9
Holoprosencephaly, Alobar holoprosencephaly, Occipital meningocele, Hydrocephalus OMIM:610829
Otopalatodigital Syndrome, Type Ii
Hydrocephalus, Stillbirth, Spina bifida, Umbilical hernia OMIM:304120
Marfan Syndrome
Meningocele ORPHA:558
Femoral-Facial Syndrome
Encephalocele, Spina bifida OMIM:134780
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida 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 15 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Differential Role of the RAC1-Binding Proteins FAM49b (CYRI-B) and CYFIP1 in Platelets. Cells (February 2024) Cyfip1tm2c(EUCOMM)Wtsi PMC10886774
Altered motor learning and coordination in mouse models of autism spectrum disorder. Frontiers in cellular neuroscience (November 2023) Cyfip1tm2a(EUCOMM)Wtsi PMC10663323
Haploinsufficiency of the schizophrenia and autism risk gene Cyfip1 causes abnormal postnatal hippocampal neurogenesis through microglial and Arp2/3 mediated actin dependent mechanisms. Translational psychiatry (May 2021) Cyfip1tm2a(EUCOMM)Wtsi PMC8144403
Vascular surveillance by haptotactic blood platelets in inflammation and infection. Nature communications (November 2020) Cyfip1tm2c(EUCOMM)Wtsi PMC7666582
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