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Gene: Fgf13 MGI:109178

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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:
fibroblast growth factor 13
Synonyms:
Fhf2

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 Fgf13 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.

The table below shows human diseases associated to Fgf13 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Developmental And Epileptic Encephalopathy 90
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Focal-onset seizure OMIM:301058
Non-Specific Early-Onset Epileptic Encephalopathy
Mental deterioration ORPHA:442835

The table below shows human diseases predicted to be associated to Fgf13 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Gray matter heterotopia, Polymicrogyria, Lissencephaly, Aggressive behavior, Abnormality of neuro... OMIM:604317
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria OMIM:615411
Band Heterotopia
Hydrocephalus, Gray matter heterotopia, Polymicrogyria, Subcortical band heterotopia, Agenesis of... OMIM:600348
Lissencephaly 1
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria OMIM:607432
Chudley-Mccullough Syndrome
Hydrocephalus, Gray matter heterotopia, Dysplastic corpus callosum, Polymicrogyria, Partial agene... OMIM:604213
Sub-Cortical Nodular Heterotopia
Abnormality of neuronal migration, Subcortical heterotopia, Agenesis of corpus callosum, Polymicr... ORPHA:101029
Lissencephaly 3
Gray matter heterotopia, Polymicrogyria, Agyria, Lissencephaly, Pachygyria, Agenesis of corpus ca... OMIM:611603
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration, Cognitive impairment ORPHA:1314
Lissencephaly, X-Linked, 1
Gray matter heterotopia, Agyria, Lissencephaly, Pachygyria, Agenesis of corpus callosum OMIM:300067
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia, Gray matter heterotopia OMIM:615544
Isolated Focal Cortical Dysplasia
Abnormal neuron morphology, Psychomotor deterioration, Abnormal cortical gyration, Cognitive impa... ORPHA:65683
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration, Cognitive impairment ORPHA:2216
Microlissencephaly
Periventricular heterotopia, Polymicrogyria, Lissencephaly, Simplified gyral pattern, Pachygyria,... ORPHA:1083
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Agyria, Pachygyria, Gray matter heterotopia ORPHA:1084
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration, Hydrocephalus OMIM:618709
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia OMIM:608097
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Gray matter heterotopia, Cognitive impairment, Polymicrogyria, Latera... ORPHA:300573
Periventricular Nodular Heterotopia 7
Periventricular nodular heterotopia, Gray matter heterotopia OMIM:617201
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus, Gray matter heterotopia, Dysgyria, Type II lissencephaly, Occipital encephalocele ORPHA:352682
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619101
Cntnap2-Related Developmental And Epileptic Encephalopathy
Progressive language deterioration, Self-mutilation, Mental deterioration, Abnormal neuron morpho... ORPHA:163681
Hemimegalencephaly
Abnormal neuron morphology, Pachygyria, Gray matter heterotopia, Polymicrogyria ORPHA:99802
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia, Cognitive impairment OMIM:617008
Subependymal Nodular Heterotopia
Myelomeningocele, Gray matter heterotopia, Abnormality of neuronal migration, Polymicrogyria, Par... ORPHA:101030
Acalvaria
Abnormality of neuronal migration, Hydrocephalus, Spina bifida, Holoprosencephaly ORPHA:945
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
Lissencephaly 5
Hydrocephalus, Gray matter heterotopia, Type II lissencephaly, Subcortical band heterotopia, Occi... OMIM:615191
Early-Onset Schizophrenia
Cognitive impairment, Abnormal emotion/affect behavior, Anxiety, Suicidal ideation, Anhedonia, Em... ORPHA:96369
Thanatophoric Dysplasia Type 2
Hydrocephalus, Holoprosencephaly, Cognitive impairment, Abnormality of neuronal migration, Enceph... ORPHA:93274
Lissencephaly 6 With Microcephaly
Periventricular heterotopia, Polymicrogyria, Partial agenesis of the corpus callosum, Lissencepha... OMIM:616212
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Mental deterioration, Hydrocephalus, Agenesis of corpus callosum, Periventricular heterotopia OMIM:618476
Autosomal Recessive Primary Microcephaly
Pachygyria, Gray matter heterotopia, Agenesis of corpus callosum ORPHA:2512
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Lissencephaly Syndrome, Norman-Roberts Type
Abnormality of neuronal migration, Microlissencephaly, 4-layered lissencephaly, Agenesis of corpu... ORPHA:89844
Galloway-Mowat Syndrome
Abnormality of neuronal migration, Pachygyria, Aqueductal stenosis, Cognitive impairment ORPHA:2065
Leber Congenital Amaurosis
Abnormality of neuronal migration, Encephalocele ORPHA:65
Congenital Muscular Dystrophy Without Intellectual Disability
Pachygyria, Gray matter heterotopia ORPHA:370980
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydrocephalus, Gray matter heterotopia, Anencephaly, Type II lissencephaly, Occipital encephaloce... OMIM:615287
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Gray matter heterotopia, Agenesis of corpus callosum OMIM:164180
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Gray matter heterotopia, Communicating hydrocephalus, Lissencephaly, Simplified gyral pattern, Co... OMIM:615219
Peroxisome Biogenesis Disorder 13A (Zellweger)
Abnormality of neuronal migration OMIM:614887
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Abnormality of neuronal migration, Pachygyria OMIM:608840
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration, Cognitive impairment ORPHA:2063
Walker-Warburg Syndrome
Hydrocephalus, Macrogyria, Polymicrogyria, Abnormal cortical gyration, Lissencephaly, Abnormality... ORPHA:899
Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Spina bifida, Agenesis of corpus callos... OMIM:207950
Brain Small Vessel Disease 2
Subcortical heterotopia, Polymicrogyria OMIM:614483
Dysplastic Cortical Hyperostosis
Abnormality of neuronal migration ORPHA:2204
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Hydrocephalus, Gray matter heterotopia, Pachygyria, Polymicrogyria, Partial agenesis of the corpu... OMIM:614643
Acromelic Frontonasal Dysostosis
Periventricular nodular heterotopia, Encephalocele, Gray matter heterotopia, Agenesis of corpus c... OMIM:603671
Edinburgh Malformation Syndrome
Abnormality of neuronal migration, Hydrocephalus ORPHA:1895
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Gray matter heterotopia OMIM:300049
Desmosterolosis
Hydrocephalus, Macrogyria, Polymicrogyria, Abnormal cortical gyration, Lissencephaly, Abnormality... ORPHA:35107
Congenital Muscular Dystrophy With Cerebellar Involvement
Hydrocephalus, Gray matter heterotopia, Polymicrogyria, Type II lissencephaly, Occipital encephal... ORPHA:370959
Intellectual Developmental Disorder, X-Linked 12
Abnormality of neuronal migration, Anxiety OMIM:300957
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Hydrocephalus, Periventricular heterotopia, Self-injurious behavior, Aggressive behavior, Colpoce... OMIM:619833
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration ORPHA:2772
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Pachygyria, Polymicrogyria, Abnormal cortical gyration, Lissencephaly, Abnormality... ORPHA:2211
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Thanatophoric Dysplasia
Hydrocephalus, Gray matter heterotopia ORPHA:2655
Fragile X Syndrome
Periventricular heterotopia, Self-biting OMIM:300624
Tetrasomy 18P
Abnormality of neuronal migration ORPHA:3307
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia OMIM:619694
16P13.11 Microdeletion Syndrome
Abnormality of neuronal migration, Self-injurious behavior, Agenesis of corpus callosum, Holopros... ORPHA:261236
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration ORPHA:44
Joubert Syndrome
Abnormality of neuronal migration, Hydrocephalus, Polymicrogyria, Encephalocele ORPHA:475
Carnitine Palmitoyltransferase Ii Deficiency
Hydrocephalus, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Agenesis of corpus ... ORPHA:157
Neu-Laxova Syndrome
Abnormal cortical gyration, Polymicrogyria, Lissencephaly, Abnormality of neuronal migration, Pac... ORPHA:2671
Poretti-Boltshauser Syndrome
Gray matter heterotopia OMIM:615960
Joubert Syndrome 30
Gray matter heterotopia OMIM:617622
Li-Ghorbani-Weisz-Hubshman Syndrome
Periventricular heterotopia OMIM:618974
Radio-Tartaglia Syndrome
Gray matter heterotopia, Aggressive behavior, Agenesis of corpus callosum OMIM:619312
Pyruvate Dehydrogenase E1-Beta Deficiency
Periventricular heterotopia, Agenesis of corpus callosum, Pachygyria ORPHA:255138
Neurocutaneous Melanocytosis
Abnormality of neuronal migration, Meningocele ORPHA:2481
Joubert Syndrome With Oculorenal Defect
Abnormality of neuronal migration, Hydrocephalus, Encephalocele ORPHA:2318
3C Syndrome
Abnormality of neuronal migration, Hydrocephalus ORPHA:7
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Periventricular heterotopia, Anxiety, Self-injurious behavior, Agenesis of corpus callosum OMIM:618929
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hydrocephalus, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Agenesis of corpus ... ORPHA:228308
Alkuraya-Kucinskas Syndrome
Hydrocephalus, Gray matter heterotopia, Lissencephaly OMIM:617822
Vici Syndrome
Gray matter heterotopia, Agenesis of corpus callosum ORPHA:1493
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Abnormality of neuronal migration, Agenesis of corpus callosum, Polymicrogyria OMIM:608836
Thanatophoric Dysplasia, Type I
Hydrocephalus, Gray matter heterotopia OMIM:187600
Van Maldergem Syndrome 1
Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia, Simpl... OMIM:601390
Holoprosencephaly
Hydrocephalus, Holoprosencephaly, Cognitive impairment, Spinal dysraphism, Abnormality of neurona... ORPHA:2162
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of neuronal migration ORPHA:2518
Thanatophoric Dysplasia Type 1
Hydrocephalus, Gray matter heterotopia ORPHA:1860
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Gray matter heterotopia OMIM:219730
Coffin-Lowry Syndrome
Abnormality of neuronal migration, Self-injurious behavior ORPHA:192
Periventricular Nodular Heterotopia
Periventricular heterotopia ORPHA:98892
Cerebrofacioarticular Syndrome
Gray matter heterotopia, Dysplastic corpus callosum, Self-injurious behavior, Agenesis of corpus ... ORPHA:314679
Congenital Disorder Of Deglycosylation 2
Partial agenesis of the corpus callosum, Gray matter heterotopia, Polymicrogyria OMIM:619775
Man1B1-Cdg
Periventricular heterotopia ORPHA:397941
Holoprosencephaly 14
Hydrocephalus, Periventricular heterotopia, Alobar holoprosencephaly, Aqueductal stenosis, Gray m... OMIM:619895
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Periventricular heterotopia, Self-injurious behavior, Polymicrogyria, Lissencephaly, Simplified g... ORPHA:468631
Pseudo-Torch Syndrome 2
Gray matter heterotopia, Polymicrogyria OMIM:617397
Joubert Syndrome With Hepatic Defect
Abnormality of neuronal migration, Hydrocephalus, Occipital encephalocele ORPHA:1454
Bohring-Opitz Syndrome
Gray matter heterotopia, Agenesis of corpus callosum OMIM:605039
Van Maldergem Syndrome 2
Periventricular nodular heterotopia, Gray matter heterotopia, Subcortical band heterotopia OMIM:615546
Nijmegen Breakage Syndrome
Mental deterioration, Abnormality of neuronal migration ORPHA:647
6Q Terminal Deletion Syndrome
Periventricular heterotopia, Gray matter heterotopia, Polymicrogyria, Abnormality of neuronal mig... ORPHA:75857
Alg11-Cdg
Gray matter heterotopia ORPHA:280071
9Q21.13 Microdeletion Syndrome
Gray matter heterotopia ORPHA:531151
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gray matter heterotopia OMIM:618797
Miller-Dieker Lissencephaly Syndrome
Agyria, Pachygyria, Gray matter heterotopia, Lissencephaly OMIM:247200
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Periventricular heterotopia OMIM:618870
Koolen-De Vries Syndrome
Conspicuously happy disposition, Gray matter heterotopia, Anxiety OMIM:610443
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Gray matter heterotopia OMIM:608624
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Gray matter heterotopia, Holoprosencephaly, Polymicrogyria, Colpoceph... OMIM:618820
Aicardi Syndrome
Gray matter heterotopia, Polymicrogyria, Partial agenesis of the corpus callosum, Pachygyria, Spi... OMIM:304050
Opitz-Kaveggia Syndrome
Partial agenesis of the corpus callosum, Hydrocephalus, Gray matter heterotopia OMIM:305450
Multiple Acyl-Coa Dehydrogenase Deficiency
Gray matter heterotopia ORPHA:26791
Orofaciodigital Syndrome Xvi
Gray matter heterotopia OMIM:617563
16Q24.3 Microdeletion Syndrome
Periventricular heterotopia, Colpocephaly ORPHA:261250
Orofaciodigital Syndrome I
Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Abnormal cortical gyration, Agenesis of... OMIM:311200
Peroxisome Biogenesis Disorder 1A (Zellweger)
Gray matter heterotopia, Polymicrogyria OMIM:214100
Vici Syndrome
Gray matter heterotopia, Agenesis of corpus callosum OMIM:242840
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Frontal polymicrogyria, Pachygyria, Gray matter heterotopia OMIM:620024
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Abnormality of neuronal migration, Anxiety ORPHA:464311
Neuromuscular Oculoauditory Syndrome
Periventricular heterotopia, Agenesis of corpus callosum OMIM:618733
Orofaciodigital Syndrome Type 6
Abnormality of neuronal migration ORPHA:2754
Pagod Syndrome
Abnormality of neuronal migration, Encephalocele, Spina bifida, Meningocele ORPHA:991
Bilateral Perisylvian Polymicrogyria
Abnormality of neuronal migration, Bilateral perisylvian polymicrogyria, Perisylvian predominant ... ORPHA:98889
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Abnormality of neuronal migration, Holoprosencephaly ORPHA:3186
Periventricular Nodular Heterotopia 9
Periventricular nodular heterotopia, Gray matter heterotopia, Polymicrogyria OMIM:618918
Mismatch Repair Cancer Syndrome 1
Gray matter heterotopia, Agenesis of corpus callosum OMIM:276300
Arima Syndrome
Occipital meningocele, Gray matter heterotopia OMIM:243910
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Gray matter heterotopia ORPHA:453499
Hydrolethalus Syndrome 1
Gray matter heterotopia, Anencephaly, Severe hydrocephalus, Arrhinencephaly, Abnormal cortical gy... OMIM:236680
Developmental And Epileptic Encephalopathy 90
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Focal-onset seizure OMIM:301058
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Gray matter heterotopia, Agenesis of corpus callosum ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Gray matter heterotopia, Agenesis of corpus callosum ORPHA:352665
Smith-Lemli-Opitz Syndrome
Hydrocephalus, Periventricular heterotopia, Holoprosencephaly, Self-mutilation, Partial agenesis ... OMIM:270400
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Pachygyria, Gray matter heterotopia, Agenesis of corpus callosum OMIM:210710
Fontaine Progeroid Syndrome
Hydrocephalus, Gray matter heterotopia, Periventricular heterotopia OMIM:612289
Orofaciodigital Syndrome Xiv
Periventricular heterotopia, Holoprosencephaly, Polymicrogyria, Simplified gyral pattern, Occipit... OMIM:615948
Non-Specific Early-Onset Epileptic Encephalopathy
Mental deterioration ORPHA:442835
Genitopatellar Syndrome
Periventricular heterotopia, Colpocephaly, Agenesis of corpus callosum OMIM:606170
Orofaciodigital Syndrome Type 14
Partial agenesis of the corpus callosum, Periventricular heterotopia ORPHA:434179
Proteus Syndrome
Gray matter heterotopia ORPHA:744
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Happy demeanor, Periventricular heterotopia, Polymicrogyria, Lateral ventricle dilatation, Agenes... ORPHA:261537
Mowat-Wilson Syndrome
Happy demeanor, Periventricular heterotopia, Anxiety, Polymicrogyria, Agenesis of corpus callosum ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Happy demeanor, Periventricular heterotopia, Polymicrogyria, Lateral ventricle dilatation, Agenes... ORPHA:261552

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 Fgf13

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 Fgf13.

No publications found that use IMPC mice or data for Fgf13.

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MGI Allele Allele Type Produced
Fgf13em1(IMPC)Ccpcz Exon Deletion Mice
Fgf13tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Fgf13tm41233(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Fgf13tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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