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Gene: Fktn MGI:2179507

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

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 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.

Human diseases associated with Fktn (9 diseases)
Human diseases predicted to be associated with Fktn (156 diseases)

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

Disease	Matching phenotypes	Source
Congenital Muscular Dystrophy Without Intellectual Disability	Gray matter heterotopia, Pachygyria	ORPHA:370980
Walker-Warburg Syndrome	Abnormal cortical gyration, Pachygyria, Abnormal lactate dehydrogenase level, Abnormality of neur...	ORPHA:899
Congenital Muscular Dystrophy, Fukuyama Type	Type II lissencephaly	ORPHA:272
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Agyria, Lissencephaly, Pachygyria, Polymicrogyria, Type II 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	Matching phenotypes	Source
Hydroxyacyl Glutathione Hydrolase Deficiency	Glyoxalase deficiency	OMIM:614033
Lactate Dehydrogenase B Deficiency	Reduced lactate dehydrogenase B level	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 catalase level	OMIM:614097
Nodular Neuronal Heterotopia	Abnormality of neuronal migration	ORPHA:2149
Cortical Dysplasia, Complex, With Other Brain Malformations 3	Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria	OMIM:615411
Lissencephaly 1	Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria	OMIM:607432
Microlissencephaly	Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa...	ORPHA:1083
Lissencephaly, X-Linked, 1	Gray matter heterotopia, Pachygyria, Lissencephaly, Agyria	OMIM:300067
Sub-Cortical Nodular Heterotopia	Polymicrogyria, Subcortical heterotopia, Abnormality of neuronal migration	ORPHA:101029
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Gray matter heterotopia, Pachygyria, Agyria	ORPHA:1084
Lissencephaly 3	Periventricular laminar heterotopia, Pachygyria, Gray matter heterotopia, Lissencephaly, Polymicr...	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	Pachygyria, Simplified gyral pattern, Abnormality of neuronal migration, Gray matter heterotopia,...	OMIM:604317
Chudley-Mccullough Syndrome	Gray matter heterotopia, Polymicrogyria	OMIM:604213
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Gray matter heterotopia, Type II lissencephaly, Dysgyria	ORPHA:352682
Mismatch Repair Cancer Syndrome 4	Gray matter heterotopia	OMIM:619101
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Abnormality of neuronal migration	OMIM:618709
Bilateral Striopallidodentate Calcinosis	Abnormality of neuronal migration	ORPHA:1980
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
Glutathionuria	Gray matter heterotopia, Reduced gamma-glutamyltransferase level	OMIM:231950
Maternal Hyperthermia-Induced Birth Defects	Abnormality of neuronal migration	ORPHA:2216
Lissencephaly 6 With Microcephaly	Periventricular heterotopia, Pachygyria, Simplified gyral pattern, Microlissencephaly, Lissenceph...	OMIM:616212
Brain Small Vessel Disease 2	Subcortical heterotopia, Polymicrogyria	OMIM:614483
Polymicrogyria Due To Tubb2B Mutation	Perisylvian polymicrogyria, Gray matter heterotopia, Lissencephaly, Pachygyria, Polymicrogyria	ORPHA:300573
Lissencephaly 5	Gray matter heterotopia, Subcortical band heterotopia, Type II lissencephaly	OMIM:615191
Hemimegalencephaly	Gray matter heterotopia, Pachygyria, Polymicrogyria	ORPHA:99802
Autosomal Recessive Primary Microcephaly	Gray matter heterotopia, Pachygyria	ORPHA:2512
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormality of neuronal migration	ORPHA:2204
Congenital Muscular Dystrophy Without Intellectual Disability	Gray matter heterotopia, Pachygyria	ORPHA:370980
Periventricular Nodular Heterotopia 1	Gray matter heterotopia, Abnormality of neuronal migration	OMIM:300049
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Simplified gyral pattern, Periventricular heterotopia	OMIM:616171
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Pachygyria, Abnormality of neuronal migration	OMIM:608840
Subependymal Nodular Heterotopia	Gray matter heterotopia, Polymicrogyria, Abnormality of neuronal migration	ORPHA:101030
Acalvaria	Abnormality of neuronal migration	ORPHA:945
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Simplified gyral pattern, Periventricular heterotopia	OMIM:618273
Walker-Warburg Syndrome	Abnormal cortical gyration, Pachygyria, Abnormal lactate dehydrogenase level, Abnormality of neur...	ORPHA:899
Lissencephaly Syndrome, Norman-Roberts Type	4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephaly	ORPHA:89844
Leber Congenital Amaurosis	Abnormality of neuronal migration	ORPHA:65
Peroxisome Biogenesis Disorder 13A (Zellweger)	Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Jaundice...	OMIM:614887
Cerebral Palsy, Spastic Quadriplegic, 3	Gray matter heterotopia	OMIM:617008
Tetrasomy 18P	Abnormality of neuronal migration	ORPHA:3307
Periventricular Nodular Heterotopia 7	Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria	OMIM:617201
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
Joubert Syndrome 30	Gray matter heterotopia	OMIM:617622
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	Subcortical heterotopia, Agyria, Gray matter heterotopia, Lissencephaly, Pachygyria, Polymicrogyr...	OMIM:614643
Pseudo-Torch Syndrome 2	Elevated hepatic transaminase, Gray matter heterotopia, Polymicrogyria	OMIM:617397
Edinburgh Malformation Syndrome	Abnormality of neuronal migration	ORPHA:1895
Oculocerebrocutaneous Syndrome	Gray matter heterotopia	OMIM:164180
Carnitine Palmitoyltransferase Ii Deficiency	Pachygyria, Abnormality of neuronal migration, Hepatic failure, Reduced carnitine O-palmitoyltran...	ORPHA:157
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph...	ORPHA:2211
Intellectual Developmental Disorder, X-Linked 12	Abnormality of neuronal migration	OMIM:300957
Li-Ghorbani-Weisz-Hubshman Syndrome	Periventricular heterotopia	OMIM:618974
Desmosterolosis	Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph...	ORPHA:35107
Thanatophoric Dysplasia Type 2	Abnormality of neuronal migration	ORPHA:93274
Congenital Muscular Dystrophy With Cerebellar Involvement	Gray matter heterotopia, Polymicrogyria, Type II lissencephaly	ORPHA:370959
Fragile X Syndrome	Periventricular heterotopia	OMIM:300624
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Ele...	OMIM:608836
Periventricular Nodular Heterotopia	Periventricular heterotopia	ORPHA:98892
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Pachygyria, Abnormality of neuronal migration, Hepatic failure, Reduced carnitine O-palmitoyltran...	ORPHA:228308
Alg11-Cdg	Elevated hepatic transaminase, Gray matter heterotopia	ORPHA:280071
Thanatophoric Dysplasia	Gray matter heterotopia	ORPHA:2655
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of neuronal migration	ORPHA:2518
Neu-Laxova Syndrome	Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph...	ORPHA:2671
Pyruvate Dehydrogenase E1-Beta Deficiency	Pachygyria, Periventricular heterotopia	ORPHA:255138
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Gray matter heterotopia, Increased circulating lactate dehydrogena...	ORPHA:26791
Neurocutaneous Melanocytosis	Abnormality of neuronal migration	ORPHA:2481
Van Maldergem Syndrome 1	Subcortical band heterotopia, Simplified gyral pattern, Gray matter heterotopia, Periventricular ...	OMIM:601390
Galloway-Mowat Syndrome	Pachygyria, Abnormality of neuronal migration	ORPHA:2065
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Chronic hepatic failure, Abnormality of neuronal migration, Portal...	ORPHA:1454
Joubert Syndrome	Polymicrogyria, Abnormality of neuronal migration	ORPHA:475
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of neuronal migration	ORPHA:2063
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Gray matter heterotopia, Lissencephaly, Simplified gyral pattern	OMIM:615219
3C Syndrome	Abnormality of neuronal migration	ORPHA:7
Chiari Malformation Type Ii	Gray matter heterotopia	OMIM:207950
Man1B1-Cdg	Periventricular heterotopia	ORPHA:397941
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Periventricular heterotopia	OMIM:614105
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
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Gray matter heterotopia	OMIM:618797
Coffin-Lowry Syndrome	Abnormality of neuronal migration	ORPHA:192
Thanatophoric Dysplasia, Type I	Gray matter heterotopia	OMIM:187600
Cntnap2-Related Developmental And Epileptic Encephalopathy	Abnormality of neuronal migration	ORPHA:163681
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Periventricular heterotopia	OMIM:619833
Miller-Dieker Lissencephaly Syndrome	Gray matter heterotopia, Pachygyria, Lissencephaly, Agyria	OMIM:247200
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Gray matter heterotopia	OMIM:608624
Thanatophoric Dysplasia Type 1	Gray matter heterotopia	ORPHA:1860
Ventriculomegaly With Cystic Kidney Disease	Gray matter heterotopia	OMIM:219730
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Periventricular heterotopia	OMIM:618870
Van Maldergem Syndrome 2	Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia	OMIM:615546
Peroxisome Biogenesis Disorder 1A (Zellweger)	Gray matter heterotopia, Polymicrogyria, Prolonged neonatal jaundice	OMIM:214100
16P13.11 Microdeletion Syndrome	Abnormality of neuronal migration	ORPHA:261236
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Gray matter heterotopia, Frontal polymicrogyria, Pachygyria	OMIM:620024
6Q Terminal Deletion Syndrome	Gray matter heterotopia, Polymicrogyria, Abnormality of neuronal migration, Periventricular heter...	ORPHA:75857
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
Orofaciodigital Syndrome Type 6	Abnormality of neuronal migration	ORPHA:2754
Bilateral Perisylvian Polymicrogyria	Perisylvian predominant thick cortex pachygyria, Abnormality of neuronal migration, Bilateral per...	ORPHA:98889
Periventricular Nodular Heterotopia 9	Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria	OMIM:618918
Koolen-De Vries Syndrome	Gray matter heterotopia	OMIM:610443
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Periventricular heterotopia	OMIM:618476
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Periventricular heterotopia, Pachygyria, Simplified gyral pattern, Lissencephaly, Polymicrogyria	ORPHA:468631
Cerebrofacioarticular Syndrome	Gray matter heterotopia	ORPHA:314679
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Agyria, Lissencephaly, Pachygyria, Polymicrogyria, Type II lissencephaly	OMIM:253800
Acromelic Frontonasal Dysostosis	Gray matter heterotopia, Periventricular nodular heterotopia	OMIM:603671
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
Opitz-Kaveggia Syndrome	Gray matter heterotopia	OMIM:305450
Neuromuscular Oculoauditory Syndrome	Periventricular heterotopia	OMIM:618733
Aicardi Syndrome	Gray matter heterotopia, Pachygyria, Polymicrogyria	OMIM:304050
Mismatch Repair Cancer Syndrome 1	Gray matter heterotopia	OMIM:276300
Holoprosencephaly 14	Gray matter heterotopia, Periventricular heterotopia	OMIM:619895
Orofaciodigital Syndrome I	Gray matter heterotopia, Abnormal cortical gyration	OMIM:311200
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Abnormal cortical gyration, Microlissencephaly, Gray matter heterotopia, Prolonged neonatal jaund...	OMIM:210710
Vici Syndrome	Gray matter heterotopia	OMIM:242840
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
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	Gray matter heterotopia, Type II lissencephaly	OMIM:615287
Orofaciodigital Syndrome Xiv	Polymicrogyria, Simplified gyral pattern, Periventricular heterotopia	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	Polymicrogyria, Periventricular heterotopia	ORPHA:261537
Mowat-Wilson Syndrome	Polymicrogyria, Periventricular heterotopia	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Polymicrogyria, Periventricular heterotopia	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.

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MGI Allele	Allele Type	Produced
Fktn^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Fktn^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Fktn^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Fktn^{tm33848(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Fktn^{tm33848(L1L2_st0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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