Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
fukutin
Synonyms:
Fukutin,  Fcmd

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Fktn 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 Fktn by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Walker-Warburg Syndrome
Abnormal cortical gyration, Polymicrogyria, Abnormal circulating lactate dehydrogenase concentrat... ORPHA:899
Congenital Muscular Dystrophy Without Intellectual Disability
Pachygyria, Gray matter heterotopia ORPHA:370980
Congenital Muscular Dystrophy, Fukuyama Type
Type II lissencephaly ORPHA:272
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Polymicrogyria, Type II lissencephaly, Pachygyria, Agyria, Lissencephaly OMIM:253800
Muscle-Eye-Brain Disease
Meningocele ORPHA:588
Familial Isolated Dilated Cardiomyopathy
ORPHA:154
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
OMIM:611588
Cardiomyopathy, Dilated, 1X
OMIM:611615
Muscular Dystrophy-Dystroglycanopathy (Congenital Without Impaired Intellectual Development), Type B, 4
OMIM:613152

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Hydroxyacyl Glutathione Hydrolase Deficiency
Glyoxalase deficiency OMIM:614033
Lactate Dehydrogenase B Deficiency
Reduced circulating lactate dehydrogenase concentration OMIM:614128
Deoxyribose-5-Phosphate Aldolase Deficiency
Abnormal circulating enzyme concentration or activity OMIM:125460
Alcohol Sensitivity, Acute
Reduced acetaldehyde dehydrogenase level OMIM:610251
Acatalasemia
Reduced circulating catalase activity OMIM:614097
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Pachygyria, Agyria, Gray matter heterotopia, Subcortical band heterotopia, Lissencephaly OMIM:615411
Lissencephaly 1
Pachygyria, Agyria, Gray matter heterotopia, Subcortical band heterotopia, Lissencephaly OMIM:607432
Microlissencephaly
Polymicrogyria, Periventricular heterotopia, Pachygyria, Subcortical heterotopia, Lissencephaly, ... ORPHA:1083
Lissencephaly, X-Linked, 1
Pachygyria, Agyria, Gray matter heterotopia, Lissencephaly OMIM:300067
Sub-Cortical Nodular Heterotopia
Abnormality of neuronal migration, Subcortical heterotopia, Polymicrogyria ORPHA:101029
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Pachygyria, Agyria, Gray matter heterotopia ORPHA:1084
Lissencephaly 3
Polymicrogyria, Periventricular laminar heterotopia, Pachygyria, Agyria, Gray matter heterotopia,... OMIM:611603
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia OMIM:608097
Periventricular Nodular Heterotopia 8
Periventricular nodular heterotopia OMIM:618185
Platelet-Activating Factor Acetylhydrolase Deficiency
Platelet-activating factor acetylhydrolase deficiency OMIM:614278
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia OMIM:615544
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Gray matter heterotopia, Lissencep... OMIM:604317
Chudley-Mccullough Syndrome
Gray matter heterotopia, Polymicrogyria OMIM:604213
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Type II lissencephaly, Gray matter heterotopia, Dysgyria ORPHA:352682
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration OMIM:618709
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration ORPHA:2216
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia OMIM:619101
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
Glutathionuria
Gray matter heterotopia, Reduced gamma-glutamyltransferase level, Reduced tissue gamma-glutamyltr... OMIM:231950
Band Heterotopia
Gray matter heterotopia, Subcortical band heterotopia, Polymicrogyria OMIM:600348
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration ORPHA:1314
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Lissencephaly 6 With Microcephaly
Polymicrogyria, Periventricular heterotopia, Microlissencephaly, Pachygyria, Lissencephaly, Simpl... OMIM:616212
Brain Small Vessel Disease 2
Subcortical heterotopia, Polymicrogyria OMIM:614483
Polymicrogyria Due To Tubb2B Mutation
Polymicrogyria, Pachygyria, Gray matter heterotopia, Lissencephaly, Perisylvian polymicrogyria ORPHA:300573
Lissencephaly 5
Type II lissencephaly, Gray matter heterotopia, Subcortical band heterotopia OMIM:615191
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Pachygyria ORPHA:2512
Hemimegalencephaly
Pachygyria, Gray matter heterotopia, Polymicrogyria ORPHA:99802
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormality of neuronal migration ORPHA:2204
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Gray matter heterotopia OMIM:300049
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Periventricular heterotopia, Simplified gyral pattern OMIM:616171
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Abnormality of neuronal migration, Pachygyria OMIM:608840
Subependymal Nodular Heterotopia
Abnormality of neuronal migration, Gray matter heterotopia, Polymicrogyria ORPHA:101030
Acalvaria
Abnormality of neuronal migration ORPHA:945
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Periventricular heterotopia, Simplified gyral pattern OMIM:618273
Lissencephaly Syndrome, Norman-Roberts Type
Abnormality of neuronal migration, Microlissencephaly, 4-layered lissencephaly ORPHA:89844
Leber Congenital Amaurosis
Abnormality of neuronal migration ORPHA:65
Walker-Warburg Syndrome
Abnormal cortical gyration, Polymicrogyria, Abnormal circulating lactate dehydrogenase concentrat... ORPHA:899
Congenital Muscular Dystrophy Without Intellectual Disability
Pachygyria, Gray matter heterotopia ORPHA:370980
Peroxisome Biogenesis Disorder 13A (Zellweger)
Intrahepatic cholestasis, Polymicrogyria, Elevated circulating aspartate aminotransferase concent... OMIM:614887
Joubert Syndrome 30
Gray matter heterotopia, Polymicrogyria OMIM:617622
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia OMIM:617008
Periventricular Nodular Heterotopia 7
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria OMIM:617201
Tetrasomy 18P
Abnormality of neuronal migration ORPHA:3307
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration ORPHA:2772
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia OMIM:619694
Poretti-Boltshauser Syndrome
Gray matter heterotopia OMIM:615960
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration ORPHA:44
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Polymicrogyria, Type II lissencephaly, Pachygyria, Subcortical heterotopia, Agyria, Gray matter h... OMIM:614643
Pseudo-Torch Syndrome 2
Gray matter heterotopia, Elevated circulating hepatic transaminase concentration, Polymicrogyria OMIM:617397
Edinburgh Malformation Syndrome
Abnormality of neuronal migration ORPHA:1895
Oculocerebrocutaneous Syndrome
Gray matter heterotopia OMIM:164180
Intellectual Developmental Disorder, X-Linked 12
Abnormality of neuronal migration OMIM:300957
Carnitine Palmitoyltransferase Ii Deficiency
Hepatic failure, Polymicrogyria, Abnormality of neuronal migration, Reduced tissue carnitine O-pa... ORPHA:157
Li-Ghorbani-Weisz-Hubshman Syndrome
Periventricular heterotopia OMIM:618974
Thanatophoric Dysplasia Type 2
Abnormality of neuronal migration ORPHA:93274
Congenital Muscular Dystrophy With Cerebellar Involvement
Type II lissencephaly, Gray matter heterotopia, Polymicrogyria ORPHA:370959
Fragile X Syndrome
Periventricular heterotopia OMIM:300624
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Lissen... ORPHA:2211
Desmosterolosis
Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Lissen... ORPHA:35107
Periventricular Nodular Heterotopia
Periventricular heterotopia ORPHA:98892
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Periventricular heterotopia, Reduced methylmalonate semialdehyde dehydrogenase activity in cultur... OMIM:614105
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating hepatic transaminase concentration, Polymicrogyria, Elevated circulating asp... OMIM:608836
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatic failure, Polymicrogyria, Abnormality of neuronal migration, Reduced tissue carnitine O-pa... ORPHA:228308
Thanatophoric Dysplasia
Gray matter heterotopia ORPHA:2655
Alg11-Cdg
Gray matter heterotopia, Elevated circulating hepatic transaminase concentration ORPHA:280071
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of neuronal migration ORPHA:2518
Multiple Acyl-Coa Dehydrogenase Deficiency
Gray matter heterotopia, Elevated circulating hepatic transaminase concentration, Increased circu... ORPHA:26791
Pyruvate Dehydrogenase E1-Beta Deficiency
Pachygyria, Periventricular heterotopia ORPHA:255138
Galloway-Mowat Syndrome
Abnormality of neuronal migration, Pachygyria ORPHA:2065
Van Maldergem Syndrome 1
Periventricular nodular heterotopia, Pachygyria, Gray matter heterotopia, Subcortical band hetero... OMIM:601390
Neurocutaneous Melanocytosis
Abnormality of neuronal migration ORPHA:2481
Joubert Syndrome With Hepatic Defect
Abnormality of neuronal migration, Chronic hepatic failure, Elevated circulating hepatic transami... ORPHA:1454
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Gray matter heterotopia, Lissencephaly, Simplified gyral pattern OMIM:615219
Neu-Laxova Syndrome
Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Lissen... ORPHA:2671
Joubert Syndrome
Abnormality of neuronal migration, Polymicrogyria ORPHA:475
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration ORPHA:2063
Chiari Malformation Type Ii
Gray matter heterotopia OMIM:207950
Man1B1-Cdg
Periventricular heterotopia ORPHA:397941
3C Syndrome
Abnormality of neuronal migration ORPHA:7
Radio-Tartaglia Syndrome
Gray matter heterotopia OMIM:619312
9Q21.13 Microdeletion Syndrome
Gray matter heterotopia ORPHA:531151
Alkuraya-Kucinskas Syndrome
Gray matter heterotopia, Lissencephaly OMIM:617822
Joubert Syndrome With Oculorenal Defect
Abnormality of neuronal migration ORPHA:2318
Congenital Disorder Of Deglycosylation 2
Gray matter heterotopia, Polymicrogyria OMIM:619775
Orofaciodigital Syndrome Xvi
Gray matter heterotopia OMIM:617563
Vici Syndrome
Gray matter heterotopia ORPHA:1493
Coffin-Lowry Syndrome
Abnormality of neuronal migration ORPHA:192
Thanatophoric Dysplasia, Type I
Gray matter heterotopia OMIM:187600
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gray matter heterotopia OMIM:618797
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormality of neuronal migration ORPHA:163681
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Periventricular heterotopia OMIM:619833
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Gray matter heterotopia OMIM:608624
Miller-Dieker Lissencephaly Syndrome
Gray matter heterotopia, Agyria, Lissencephaly, Pachygyria OMIM:247200
Thanatophoric Dysplasia Type 1
Gray matter heterotopia ORPHA:1860
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Gray matter heterotopia OMIM:620475
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Periventricular heterotopia OMIM:618870
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia OMIM:219730
Van Maldergem Syndrome 2
Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia OMIM:615546
Peroxisome Biogenesis Disorder 1A (Zellweger)
Prolonged neonatal jaundice, Gray matter heterotopia, Polymicrogyria OMIM:214100
16P13.11 Microdeletion Syndrome
Abnormality of neuronal migration ORPHA:261236
6Q Terminal Deletion Syndrome
Abnormality of neuronal migration, Gray matter heterotopia, Periventricular heterotopia, Polymicr... ORPHA:75857
Galloway-Mowat Syndrome 1
Abnormality of neuronal migration, Pachygyria OMIM:251300
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Pachygyria, Gray matter heterotopia, Frontal polymicrogyria OMIM:620024
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Periventricular heterotopia OMIM:618929
Bohring-Opitz Syndrome
Gray matter heterotopia OMIM:605039
Congenital Muscular Dystrophy, Fukuyama Type
Type II lissencephaly ORPHA:272
Bilateral Perisylvian Polymicrogyria
Abnormality of neuronal migration, Bilateral perisylvian polymicrogyria, Perisylvian predominant ... ORPHA:98889
Orofaciodigital Syndrome Type 6
Abnormality of neuronal migration ORPHA:2754
Koolen-De Vries Syndrome
Gray matter heterotopia OMIM:610443
Periventricular Nodular Heterotopia 9
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria OMIM:618918
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Polymicrogyria, Periventricular heterotopia, Pachygyria, Lissencephaly, Simplified gyral pattern ORPHA:468631
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Polymicrogyria, Type II lissencephaly, Pachygyria, Agyria, Lissencephaly OMIM:253800
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Periventricular heterotopia OMIM:618476
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Gray matter heterotopia OMIM:620654
Cerebrofacioarticular Syndrome
Gray matter heterotopia ORPHA:314679
16Q24.3 Microdeletion Syndrome
Periventricular heterotopia ORPHA:261250
Holoprosencephaly
Abnormality of neuronal migration ORPHA:2162
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Abnormality of neuronal migration ORPHA:464311
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Gray matter heterotopia ORPHA:453499
Neuromuscular Oculoauditory Syndrome
Periventricular heterotopia OMIM:618733
Opitz-Kaveggia Syndrome
Gray matter heterotopia OMIM:305450
Aicardi Syndrome
Pachygyria, Gray matter heterotopia, Polymicrogyria OMIM:304050
Orofaciodigital Syndrome I
Gray matter heterotopia, Abnormal cortical gyration OMIM:311200
Mismatch Repair Cancer Syndrome 1
Gray matter heterotopia OMIM:276300
Holoprosencephaly 14
Gray matter heterotopia, Periventricular heterotopia OMIM:619895
Vici Syndrome
Gray matter heterotopia OMIM:242840
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Abnormal cortical gyration, Pachygyria, Polymicrogyria, Microlissencephaly, Prolonged neonatal ja... OMIM:210710
Nijmegen Breakage Syndrome
Abnormality of neuronal migration ORPHA:647
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Abnormality of neuronal migration ORPHA:3186
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Gray matter heterotopia ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Gray matter heterotopia ORPHA:352665
Genitourinary And/Or Brain Malformation Syndrome
Gray matter heterotopia, Polymicrogyria OMIM:618820
Pagod Syndrome
Abnormality of neuronal migration ORPHA:991
Acromelic Frontonasal Dysostosis
Gray matter heterotopia, Periventricular nodular heterotopia OMIM:603671
Arima Syndrome
Gray matter heterotopia OMIM:243910
Fontaine Progeroid Syndrome
Gray matter heterotopia, Periventricular heterotopia OMIM:612289
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Type II lissencephaly, Gray matter heterotopia OMIM:615287
Orofaciodigital Syndrome Xiv
Simplified gyral pattern, Periventricular heterotopia, Polymicrogyria OMIM:615948
Smith-Lemli-Opitz Syndrome
Periventricular heterotopia OMIM:270400
Hydrolethalus Syndrome 1
Gray matter heterotopia, Abnormal cortical gyration OMIM:236680
Proteus Syndrome
Gray matter heterotopia ORPHA:744
Orofaciodigital Syndrome Type 14
Periventricular heterotopia ORPHA:434179
Genitopatellar Syndrome
Pachygyria, Periventricular heterotopia OMIM:606170
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Periventricular heterotopia, Polymicrogyria ORPHA:261537
Mowat-Wilson Syndrome
Periventricular heterotopia, Polymicrogyria ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Periventricular heterotopia, Polymicrogyria ORPHA:261552
Muscle-Eye-Brain Disease
Meningocele ORPHA:588
Familial Isolated Dilated Cardiomyopathy
ORPHA:154
Cardiomyopathy, Dilated, 1X
OMIM:611615
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
OMIM:611588
Muscular Dystrophy-Dystroglycanopathy (Congenital Without Impaired Intellectual Development), Type B, 4
OMIM:613152

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 Fktn

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 Fktn.

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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Fktntm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Fktntm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Fktntm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Fktntm33848(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Fktntm33848(L1L2_st0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter