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Genes Phenotypes Help, News, Blog

Gene: Cfl1 MGI:101757

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
cofilin 1, non-muscle
Synonyms:
cofilin,  Cof,  n-cofilin

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Cfl1 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 Cfl1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Type II lissencephaly, Neural tube defect OMIM:615041
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
Joubert Syndrome 15
Coloboma, Exencephaly OMIM:614464
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Acalvaria
Abnormality of neuronal migration, Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Anencephaly, Spina bifida, Ventricular septal defect ORPHA:2476
Subependymal Nodular Heterotopia
Occipital encephalocele, Polymicrogyria, Myelomeningocele, Abnormality of neuronal migration, Nas... ORPHA:101030
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Type II lissencephaly, Coloboma, Occipital encephalocele, Hydrocephalus ORPHA:324416
Humero-Radial Synostosis
Meningocele, Iris coloboma, Chorioretinal coloboma ORPHA:3265
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Isolated Hemihyperplasia
Myelomeningocele ORPHA:2128
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Congenital Vertical Talus
Myelomeningocele ORPHA:178382
Joubert Syndrome 16
Coloboma, Encephalocele OMIM:614465
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida, Gray matter heterotopia OMIM:207950
Thoraco-Abdominal Enteric Duplication
Meningocele, Abnormal tricuspid valve morphology, Dextrocardia ORPHA:1759
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Schisis Association
Anencephaly, Encephalocele, Spina bifida ORPHA:63862
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal cortical gyration, Polymicrogyria, Encephalocele, Exencephaly, Abnormality of neuronal m... ORPHA:2211
Wildervanck Syndrome
Meningocele ORPHA:3456
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Diaphanospondylodysostosis
Myelomeningocele ORPHA:66637
Anophthalmia Plus Syndrome
Iris coloboma, Spina bifida ORPHA:1104
Meckel Syndrome, Type 2
Intrauterine growth retardation, Meningocele, Anencephaly, Encephalocele OMIM:603194
Meckel Syndrome, Type 4
Intrauterine growth retardation, Encephalocele, Hydrocephalus, Meningocele, Anencephaly OMIM:611134
Neurocutaneous Melanocytosis
Abnormality of neuronal migration, Meningocele, Chorioretinal coloboma ORPHA:2481
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly ORPHA:63260
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Intrauterine growth retardation, Encephalocele, Hydrocephalus, Meningocele, Ho... ORPHA:1908
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Coloboma, Holoprosencephaly, Anterior encephalocele OMIM:601357
Isolated Klippel-Feil Syndrome
Spina bifida ORPHA:2345
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Intellectual Developmental Disorder, Autosomal Dominant 72
Spina bifida OMIM:620439
Biemond Syndrome Type 2
Coloboma, Hydrocephalus ORPHA:141333
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Type II lissencephaly, Coloboma, Hydrocephalus, Pachygyria, Agyria, Lissencephaly, Simplified gyr... OMIM:613153
Frontonasal Dysplasia 1
Cranium bifidum occultum, Coloboma, Anterior basal encephalocele OMIM:136760
Enlarged Parietal Foramina
Myelomeningocele, Occipital encephalocele ORPHA:60015
Triploidy
Intrauterine growth retardation, Hydrocephalus, Meningocele, Holoprosencephaly, Iris coloboma ORPHA:3376
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Atrioventricular canal defect, Abnormal aortic valve morphology, Bicuspid aortic valve, Spina bif... ORPHA:1120
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele, Chorioretinal coloboma ORPHA:2031
Amish Lethal Microcephaly
Spina bifida, Lissencephaly ORPHA:99742
Sirenomelia
Sirenomelia, Spina bifida ORPHA:3169
Camptodactyly Syndrome, Guadalajara Type 1
Intrauterine growth retardation, Spina bifida ORPHA:1327
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neural tube defect ORPHA:268810
Joubert Syndrome 14
Hydrocephalus, Meningocele, Coloboma, Encephalocele OMIM:614424
Verheij Syndrome
Intrauterine growth retardation, Coloboma, Branchial cyst, Truncus arteriosus OMIM:615583
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Polymicrogyria, Type II lissencephaly, Coloboma, Hydrocephalus, Gray mat... ORPHA:370959
Czeizel-Losonci Syndrome
Myelomeningocele, Spina bifida occulta, Spina bifida, Hydrocephalus ORPHA:2437
Pelvis-Shoulder Dysplasia
Hydranencephaly, Retinal coloboma, Hydrocephalus, Spina bifida, Iris coloboma ORPHA:2839
Coach Syndrome 2
Coloboma, Hydrocephalus, Chorioretinal coloboma OMIM:619111
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Alg3-Cdg
Neural tube defect ORPHA:79321
Fountain Syndrome
Spina bifida occulta, Spina bifida ORPHA:3219
Autosomal Recessive Spondylocostal Dysostosis
Spina bifida occulta, Meningocele, Intrauterine growth retardation, Umbilical hernia ORPHA:2311
Neu-Laxova Syndrome 2
Intrauterine growth retardation, Spina bifida, Lissencephaly OMIM:616038
Iniencephaly
Spinal dysraphism, Myelomeningocele, Encephalocele, Spina bifida, Hydrocephalus, Holoprosencephal... ORPHA:63259
Sacral Defect With Anterior Meningocele
Hydromyelia, Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal sinus tract OMIM:600145
Fliedner-Zweier Syndrome
Meningocele OMIM:620511
Cerebrocostomandibular Syndrome
Hydranencephaly, Myelomeningocele, Intrauterine growth retardation, Spina bifida, Meningocele ORPHA:1393
Phakomatosis Pigmentokeratotica
Coloboma, Spina bifida ORPHA:2874
Acromelic Frontonasal Dysplasia
Meningocele, Encephalocele ORPHA:1827
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Type II lissencephaly, Coloboma, Hydrocephalus, Agyria, Lissencephaly OMIM:615249
Lateral Meningocele Syndrome
Meningocele, Iris coloboma, Umbilical hernia ORPHA:2789
Curry-Jones Syndrome
Iris coloboma, Occipital meningocele, Lipomyelomeningocele, Polymicrogyria OMIM:601707
Coach Syndrome 1
Coloboma, Occipital encephalocele, Encephalocele OMIM:216360
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polymicrogyria, Retinal coloboma, Occipital meningocele, Hydrocephalus, Anencephaly OMIM:616546
Lateral Meningocele Syndrome
Hydrocephalus, Meningocele, Patent ductus arteriosus, Umbilical hernia OMIM:130720
Neu-Laxova Syndrome
Abnormal cortical gyration, Polymicrogyria, Intrauterine growth retardation, Abnormality of neuro... ORPHA:2671
Trisomy 18
Intrauterine growth retardation, Anencephaly, Spina bifida, Cyclopia, Holoprosencephaly, Iris col... ORPHA:3380
Mosaic Trisomy 9
Abnormal heart valve morphology, Endocardial fibroelastosis, Oligohydramnios, Ventricular septal ... ORPHA:99776
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Vacterl With Hydrocephalus
Hydrocephalus, Aqueductal stenosis, Intrauterine growth retardation, Spina bifida ORPHA:3412
Pagod Syndrome
Abnormality of neuronal migration, Meningocele, Encephalocele, Spina bifida ORPHA:991
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Chromosome 17P13.1 Deletion Syndrome
Hydrocephalus, Spina bifida, Umbilical hernia OMIM:613776
Limb Body Wall Complex
Iris coloboma, Myelomeningocele, Encephalocele, Short umbilical cord, Spina bifida, Hydrocephalus... ORPHA:2369
Solitary Median Maxillary Central Incisor
Coloboma, Cyclopia, Holoprosencephaly OMIM:147250
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Aqueductal steno... OMIM:306955
Focal Dermal Hypoplasia
Chorioretinal coloboma, Umbilical hernia, Spina bifida, Iris coloboma, Patent ductus arteriosus ORPHA:2092
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Polymicrogyria, Type II lissencephaly, Coloboma, Hydrocephalus, Pachygyr... OMIM:236670
Lathosterolosis
Intrauterine growth retardation, Meningocele ORPHA:46059
Trisomy 20P
Spina bifida, Umbilical hernia ORPHA:261318
Basal Cell Nevus Syndrome 1
Hydrocephalus, Iris coloboma, Spina bifida OMIM:109400
Hallermann-Streiff Syndrome
Optic disc coloboma, Iris coloboma, Spina bifida, Chorioretinal coloboma OMIM:234100
Nail-Patella Syndrome
Spina bifida OMIM:161200
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Retinal coloboma, Truncus arteriosus, Coloboma, Spina bifida, Iris coloboma ORPHA:508498
Aicardi Syndrome
Optic disc coloboma, Polymicrogyria, Spina bifida, Pachygyria, Gray matter heterotopia OMIM:304050
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele ORPHA:1010
Fibular Hemimelia
Spina bifida ORPHA:93323
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Meningocele, Occipital encephalocele ORPHA:397715
Phocomelia, Schinzel Type
Intrauterine growth retardation, Meningocele ORPHA:2879
Orofaciodigital Syndrome Vi
Periventricular nodular heterotopia, Occipital meningocele, Polymicrogyria OMIM:277170
Holoprosencephaly 7
Iris coloboma, Alobar holoprosencephaly, Semilobar holoprosencephaly, Hydrocephalus, Holoprosence... OMIM:610828
Arima Syndrome
Gray matter heterotopia, Occipital meningocele, Chorioretinal coloboma OMIM:243910
Neu-Laxova Syndrome 1
Hydranencephaly, Small placenta, Intrauterine growth retardation, Short umbilical cord, Neonatal ... OMIM:256520
Neurofibromatosis, Type I
Hydrocephalus, Aqueductal stenosis, Spina bifida OMIM:162200
Knobloch Syndrome 1
Occipital encephalocele, Polymicrogyria, Spina bifida occulta, Occipital meningocele, Patent duct... OMIM:267750
Jacobsen Syndrome
Pachygyria, Intrauterine growth retardation, Iris coloboma, Spina bifida ORPHA:2308
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Patent ductus arteriosus, Spina bifida OMIM:619480
Vater/Vacterl Association
Occipital encephalocele, Intrauterine growth retardation, Spina bifida, Patent urachus, Patent du... OMIM:192350
Thrombocytopenia-Absent Radius Syndrome
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Edema of the dorsu... OMIM:274000
22Q11.2 Deletion Syndrome
Umbilical hernia, Intrauterine growth retardation, Truncus arteriosus, Spina bifida, Hydrocephalu... ORPHA:567
Fanconi Anemia
Umbilical hernia, Intrauterine growth retardation, Hydrocephalus, Spina bifida, Patent ductus art... ORPHA:84
Semilobar Holoprosencephaly
Cyclopia, Hydrocephalus, Neural tube defect ORPHA:220386
Alobar Holoprosencephaly
Cyclopia, Hydrocephalus, Neural tube defect ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Cyclopia, Hydrocephalus, Neural tube defect ORPHA:93926
Lobar Holoprosencephaly
Cyclopia, Hydrocephalus, Neural tube defect ORPHA:93924
Femoral-Facial Syndrome
Patent ductus arteriosus, Encephalocele, Spina bifida, Truncus arteriosus OMIM:134780
Campomelic Dysplasia
Hydrocephalus, Spinal dysraphism, Spina bifida OMIM:114290
Cutis Laxa, Autosomal Recessive, Type Ib
Spina bifida, Neonatal death OMIM:614437
Holoprosencephaly 9
Abnormal cortical gyration, Alobar holoprosencephaly, Hydrocephalus, Holoprosencephaly, Occipital... OMIM:610829
Rubinstein-Taybi Syndrome 1
Spina bifida occulta, Patent ductus arteriosus, Coloboma, Spina bifida OMIM:180849
Koolen-De Vries Syndrome Due To A Point Mutation
Hydrocephalus, Spina bifida ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hydrocephalus, Spina bifida ORPHA:363958
Marfan Syndrome
Meningocele ORPHA:558
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida ORPHA:322
Otopalatodigital Syndrome, Type Ii
Hydrocephalus, Stillbirth, Spina bifida, Umbilical hernia OMIM:304120
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 Cfl1

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 Cfl1.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Cofilin-1-induced actin reorganization in stored platelets. Transfusion (March 2020) Cfl1tm1a(KOMP)Mbp PMC7204406

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MGI Allele Allele Type Produced
Cfl1tm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Cfl1tm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells

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