Not currently registered for phenotyping at IMPC

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

Gene Summary

cofilin 1, non-muscle
cofilin,  Cof,  n-cofilin

IMPC Data Collections

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

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.

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
Matching phenotypes Source
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Anencephaly, Spina bifida, Ventricular septal defect ORPHA:2476
Holoprosencephaly, Spina bifida, Abnormality of neuronal migration, Hydrocephalus ORPHA:945
Frontal Encephalocele
Spina bifida, Encephalocele, Hydrocephalus ORPHA:1931
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Coloboma, Type II lissencephaly, Hydrocephalus ORPHA:324416
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Joubert Syndrome 16
Coloboma, Encephalocele OMIM:614465
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Anencephaly, Myelomeningocele, Hydrocephalus OMIM:182940
Schisis Association
Anencephaly, Spina bifida, Encephalocele ORPHA:63862
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal cortical gyration, Lissencephaly, Macrogyria, Exencephaly, Pachygyria, Polymicrogyria, A... ORPHA:2211
Chiari Malformation Type Ii
Myelomeningocele, Gray matter heterotopia, Spina bifida, Hydrocephalus, Cervical myelopathy OMIM:207950
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Chorioretinal coloboma, Cervical spina bifida OMIM:600122
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Caudal Duplication
Spina bifida, Myelomeningocele ORPHA:1756
Anophthalmia Plus Syndrome
Spina bifida, Iris coloboma ORPHA:1104
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Anterior encephalocele, Coloboma, Holoprosencephaly OMIM:601357
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Amish Lethal Microcephaly
Lissencephaly, Spina bifida ORPHA:99742
Biemond Syndrome Type 2
Coloboma, Hydrocephalus ORPHA:141333
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Agyria, Lissencephaly, Coloboma, Pachygyria, Hydrocephalus, Type II lissencephaly OMIM:613153
Isolated Klippel-Feil Syndrome
Spina bifida ORPHA:2345
Frontonasal Dysplasia 1
Coloboma, Anterior basal encephalocele, Cranium bifidum occultum OMIM:136760
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Patent ductus arteriosus, Atrial septal defect, Abnormal aortic valve morphology, Spina bifida, B... ORPHA:1120
Spina bifida, Sirenomelia ORPHA:3169
Camptodactyly Syndrome, Guadalajara Type 1
Spina bifida, Intrauterine growth retardation ORPHA:1327
Joubert Syndrome 14
Coloboma, Encephalocele, Hydrocephalus OMIM:614424
Coach Syndrome 2
Chorioretinal coloboma, Coloboma, Hydrocephalus OMIM:619111
Pelvis-Shoulder Dysplasia
Retinal coloboma, Hydranencephaly, Spina bifida, Hydrocephalus, Iris coloboma ORPHA:2839
Czeizel-Losonci Syndrome
Spina bifida occulta, Spina bifida, Myelomeningocele, Hydrocephalus ORPHA:2437
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Gray matter heterotopia, Coloboma, Hydrocephalus, Type II lissencephaly,... ORPHA:370959
Waardenburg Syndrome Type 1
Spina bifida, Meningocele ORPHA:894
Neural tube defect ORPHA:79321
Myelomeningocele, Anencephaly, Spinal dysraphism, Lissencephaly, Spina bifida, Hydrocephalus, Hol... ORPHA:63259
Fountain Syndrome
Spina bifida occulta, Spina bifida ORPHA:3219
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Agyria, Lissencephaly, Coloboma, Hydrocephalus, Type II lissencephaly OMIM:615249
Cerebrocostomandibular Syndrome
Myelomeningocele, Intrauterine growth retardation, Hydranencephaly, Spina bifida, Meningocele ORPHA:1393
Posterior Meningocele
Occipital meningocele, Lipomyelomeningocele, Neural tube defect, Hydrocephalus, Meningocele ORPHA:268810
Neu-Laxova Syndrome
Abnormal cortical gyration, Intrauterine growth retardation, Lissencephaly, Spina bifida, Macrogy... ORPHA:2671
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Coach Syndrome 1
Occipital encephalocele, Coloboma, Encephalocele OMIM:216360
Lumbar Syndrome
Spina bifida, Myelomeningocele ORPHA:83628
Vacterl With Hydrocephalus
Intrauterine growth retardation, Spina bifida, Hydrocephalus, Aqueductal stenosis, Arrhinencephaly ORPHA:3412
Solitary Median Maxillary Central Incisor
Coloboma, Holoprosencephaly, Cyclopia OMIM:147250
Mosaic Trisomy 9
Abnormal heart valve morphology, Patent ductus arteriosus, Endocardial fibroelastosis, Atrial sep... ORPHA:99776
Trisomy 18
Intrauterine growth retardation, Anencephaly, Spina bifida, Cyclopia, Holoprosencephaly, Iris col... ORPHA:3380
Pagod Syndrome
Spina bifida, Meningocele, Abnormality of neuronal migration, Encephalocele ORPHA:991
Waardenburg Syndrome, Type 1
Spina bifida, Myelomeningocele OMIM:193500
Limb Body Wall Complex
Short umbilical cord, Myelomeningocele, Anencephaly, Spina bifida, Hydrocephalus, Spina bifida oc... ORPHA:2369
Focal Dermal Hypoplasia
Chorioretinal coloboma, Patent ductus arteriosus, Spina bifida, Umbilical hernia, Iris coloboma ORPHA:2092
Trisomy 20P
Umbilical hernia, Spina bifida ORPHA:261318
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Agyria, Occipital encephalocele, Coloboma, Pachygyria, Hydrocephalus, Type II lissencephaly, Poly... OMIM:236670
Cloacal Exstrophy
Spina bifida, Myelomeningocele ORPHA:93929
Basal Cell Nevus Syndrome
Spina bifida, Iris coloboma, Hydrocephalus OMIM:109400
Nail-Patella Syndrome
Spina bifida OMIM:161200
Aicardi Syndrome
Gray matter heterotopia, Spina bifida, Pachygyria, Polymicrogyria, Optic disc coloboma OMIM:304050
Hallermann-Streiff Syndrome
Optic disc coloboma, Chorioretinal coloboma, Spina bifida, Iris coloboma OMIM:234100
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Retinal coloboma, Coloboma, Spina bifida, Truncus arteriosus, Iris coloboma ORPHA:508498
Fibular Hemimelia
Spina bifida ORPHA:93323
Neu-Laxova Syndrome 1
Short umbilical cord, Intrauterine growth retardation, Patent ductus arteriosus, Hydranencephaly,... OMIM:256520
Neurofibromatosis, Type I
Spina bifida, Aqueductal stenosis, Hydrocephalus OMIM:162200
Jacobsen Syndrome
Iris coloboma, Spina bifida, Pachygyria, Intrauterine growth retardation ORPHA:2308
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Spina bifida, Patent ductus arteriosus OMIM:619480
Thrombocytopenia-Absent Radius Syndrome
Tetralogy of Fallot, Atrial septal defect, Edema of the dorsum of feet, Spina bifida, Ventricular... OMIM:274000
22Q11.2 Deletion Syndrome
Abnormal pulmonary valve morphology, Truncus arteriosus, Tetralogy of Fallot, Occipital myelomeni... ORPHA:567
Vater/Vacterl Association
Intrauterine growth retardation, Patent ductus arteriosus, Occipital encephalocele, Patent urachu... OMIM:192350
Fanconi Anemia
Intrauterine growth retardation, Patent ductus arteriosus, Spina bifida, Hydrocephalus, Umbilical... ORPHA:84
Campomelic Dysplasia
Spinal dysraphism, Spina bifida, Hydrocephalus OMIM:114290
Alobar Holoprosencephaly
Neural tube defect, Cyclopia, Hydrocephalus ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Neural tube defect, Cyclopia, Hydrocephalus ORPHA:93926
Lobar Holoprosencephaly
Neural tube defect, Cyclopia, Hydrocephalus ORPHA:93924
Semilobar Holoprosencephaly
Neural tube defect, Cyclopia, Hydrocephalus ORPHA:220386
Koolen-De Vries Syndrome Due To A Point Mutation
Spina bifida, Hydrocephalus ORPHA:363965
17Q21.31 Microdeletion Syndrome
Spina bifida, Hydrocephalus ORPHA:363958
Exstrophy-Epispadias Complex
Spina bifida, Hydrocephalus ORPHA:322
Split Cord Malformation
Myelomeningocele, Cervical spina bifida, Lipomyelomeningocele, Hydrocephalus, Meningocele ORPHA:573278


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.

No publications found that use IMPC mice or data for Cfl1.

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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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