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Gene: Cyfip1 MGI:1338801

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Gene Summary

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

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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
decreased circulating HDL cholesterol level Cyfip1tm2a(EUCOMM)Wtsi HET Early adult 1.74×10-05

Download data as:  TSV  XLS

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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
Cyfip1tm2a(EUCOMM)Wtsi
head, WT, Male, WTSI
Cyfip1tm2a(EUCOMM)Wtsi
HET, Female, WTSI
Cyfip1tm2a(EUCOMM)Wtsi
HET, Female, WTSI
Cyfip1tm2a(EUCOMM)Wtsi
HET, Female, WTSI
Cyfip1tm2a(EUCOMM)Wtsi
HET, Female, WTSI

View all 128 images

Cyfip1tm2a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Cyfip1tm2a(EUCOMM)Wtsi
back skin, HET, Female, WTSI

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
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulating apolipoprotei... OMIM:620058
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
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
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Pandas
Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E... ORPHA:66624
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Pseudobulbar paralysis, Abnormal fear-induced behavior, Delirium, Aggressive behavior ORPHA:208441
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Progressive Supranuclear Palsy
Bradykinesia, Irritability, Memory impairment, Depression, Emotional lability, Falls, Impulsivity... ORPHA:683
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Chylomicron Retention Disease
Steatorrhea, Hypotriglyceridemia, Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypoc... OMIM:246700
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Abnormal fear-induced behavior, Broad-based gait, Hyperactivity, Shufflin... ORPHA:3077
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Neural Tube Defects, Susceptibility To
Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta OMIM:182940
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Spina bifida ORPHA:2476
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... OMIM:616834
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Decreased LDL cholest... OMIM:615558
Isolated Hemihyperplasia
Myelomeningocele ORPHA:2128
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Craniorachischisis
Sirenomelia, Anencephaly, Myelomeningocele, Spinal dysraphism, Cervical spina bifida ORPHA:63260
Subependymal Nodular Heterotopia
Occipital encephalocele, Nasofrontal encephalocele, Myelomeningocele, Meningocele ORPHA:101030
Schisis Association
Anencephaly, Encephalocele, Spina bifida ORPHA:63862
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Porphyria Due To Ala Dehydratase Deficiency
Agitation, Difficulty walking, Abnormal fear-induced behavior, Depression, Confusion, Delirium, R... ORPHA:100924
Chiari Malformation Type Ii
Hydrocephalus, Cervical myelopathy, Myelomeningocele, 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
Hydrocephalus, Holoprosencephaly, Meningocele ORPHA:588
Meckel Syndrome, Type 2
Anencephaly, Encephalocele, Meningocele OMIM:603194
Meckel Syndrome, Type 4
Hydrocephalus, Anencephaly, Encephalocele, Meningocele OMIM:611134
Sirenomelia
Sirenomelia, Spina bifida ORPHA:3169
Aminopterin/Methotrexate Embryofetopathy
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Holoprosencephaly, Spinal dysraphism ORPHA:1908
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior, Cognitive impairment ORPHA:309246
Isolated Klippel-Feil Syndrome
Spina bifida ORPHA:2345
Intellectual Developmental Disorder, Autosomal Dominant 72
Spina bifida OMIM:620439
Peroxisome Biogenesis Disorder 3B
Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterolemia OMIM:266510
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Hypocholesterolemia, Decreased LDL cholesterol conc... OMIM:618156
Potocki-Lupski Syndrome
Hypocholesterolemia OMIM:610883
Isolated Posterior Meningocele
Neural tube defect, Meningocele, Hydrocephalus, Lipomyelomeningocele, Occipital meningocele ORPHA:268810
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Conjugated hyperbilirubinemia, Hypocholesterolemia OMIM:607765
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Camptodactyly Syndrome, Guadalajara Type 1
Spina bifida ORPHA:1327
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Hypocholesterolemia OMIM:608776
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Czeizel-Losonci Syndrome
Hydrocephalus, Spina bifida occulta, Myelomeningocele, Spina bifida ORPHA:2437
Waardenburg Syndrome Type 1
Spina bifida, Meningocele ORPHA:894
Sacral Defect With Anterior Meningocele
Myeloschisis, Meningocele, Hydrocephalus, Dermal sinus tract, Myelomeningocele OMIM:600145
Triploidy
Hydrocephalus, Holoprosencephaly, Meningocele ORPHA:3376
Chylomicron Retention Disease
Steatorrhea, Hypocholesterolemia ORPHA:71
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, Encephalocele, Meningocele OMIM:614424
Iniencephaly
Anencephaly, Encephalocele, Hydrocephalus, Myelomeningocele, Spina bifida, Holoprosencephaly, Spi... ORPHA:63259
Autosomal Recessive Spondylocostal Dysostosis
Meningocele, Spina bifida occulta, 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
Hydranencephaly, Spina bifida, Myelomeningocele, Meningocele ORPHA:1393
Maternal Uniparental Disomy Of Chromosome 4
Hypocholesterolemia, Decreased LDL cholesterol concentration, Elevated circulating creatine kinas... ORPHA:96180
Pelvis-Shoulder Dysplasia
Hydrocephalus, Spina bifida, Hydranencephaly ORPHA:2839
Acromelic Frontonasal Dysplasia
Encephalocele, Meningocele ORPHA:1827
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Abetalipoproteinemia
Steatorrhea, Decreased HDL cholesterol concentration, Hypotriglyceridemia, Hyperbilirubinemia, Ab... ORPHA:14
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Steatorrhea, Hypocholesterolemia OMIM:212065
Lateral Meningocele Syndrome
Meningocele, Umbilical hernia ORPHA:2789
Neu-Laxova Syndrome 2
Spina bifida OMIM:616038
Lateral Meningocele Syndrome
Hydrocephalus, Meningocele, Umbilical hernia OMIM:130720
Alg12-Cdg
Hyponatremia, Hypocholesterolemia, Hypoalbuminemia ORPHA:79324
Chromosome 17P13.1 Deletion Syndrome
Hydrocephalus, Spina bifida, Umbilical hernia OMIM:613776
Pituitary Adenoma 4, Acth-Secreting
Emotional lability, Abnormal fear-induced behavior 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
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Vacterl With Hydrocephalus
Hydrocephalus, Aqueductal stenosis, Spina bifida ORPHA:3412
Secondary Intestinal Lymphangiectasia
Decreased circulating prealbumin concentration, Secondary hyperaldosteronism, Reduced circulating... ORPHA:90363
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia OMIM:244450
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele OMIM:601707
Limb Body Wall Complex
Short umbilical cord, Anencephaly, Encephalocele, Spina bifida occulta, Hydrocephalus, Myelomenin... ORPHA:2369
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Meningocele ORPHA:397715
Pagod Syndrome
Spina bifida, Encephalocele, Meningocele ORPHA:991
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
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
Hydrocephalus, Occipital meningocele, Anencephaly OMIM:616546
Lathosterolosis
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
Hydrocephalus, Spina bifida OMIM:109400
Hallermann-Streiff Syndrome
Spina bifida OMIM:234100
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Compulsive behaviors, Impulsiv... ORPHA:353281
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele ORPHA:1010
Phocomelia, Schinzel Type
Meningocele ORPHA:2879
Holoprosencephaly 7
Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Oc... OMIM:610828
Neurofibromatosis, Type I
Hydrocephalus, Aqueductal stenosis, Spina bifida OMIM:162200
Neu-Laxova Syndrome 1
Stillbirth, Short umbilical cord, Small placenta, Hydranencephaly, Spina bifida, Neonatal death OMIM:256520
Orofaciodigital Syndrome Vi
Occipital meningocele OMIM:277170
Smith-Lemli-Opitz Syndrome
Elevated circulating 7-dehydrocholesterol concentration, Hypoalbuminemia, Hypocholesterolemia OMIM:270400
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Spina bifida ORPHA:508498
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Compulsive behaviors, Impulsiv... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Compulsive behaviors, Impulsiv... 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
Umbilical hernia, Meningocele, Hydrocephalus, Spina bifida ORPHA:567
Koolen-De Vries Syndrome Due To A Point Mutation
Hydrocephalus, Spina bifida ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hydrocephalus, Spina bifida ORPHA:363958
Knobloch Syndrome 1
Occipital encephalocele, Occipital meningocele, Spina bifida occulta OMIM:267750
Fanconi Anemia
Umbilical hernia, Hydrocephalus, Spina bifida ORPHA:84
Thrombocytopenia-Absent Radius Syndrome
Spina bifida OMIM:274000
Cutis Laxa, Autosomal Recessive, Type Ib
Neonatal death, Spina bifida OMIM:614437
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Spina bifida OMIM:619480
Arima Syndrome
Occipital meningocele OMIM:243910
Vater/Vacterl Association
Occipital encephalocele, Patent urachus, Spina bifida OMIM:192350
Rubinstein-Taybi Syndrome 1
Spina bifida occulta, Spina bifida OMIM:180849
Holoprosencephaly 9
Hydrocephalus, Occipital meningocele, Holoprosencephaly, Alobar holoprosencephaly 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

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 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 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

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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

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