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Gene: Fez1 MGI:2670976

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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:
fasciculation and elongation protein zeta 1
Synonyms:
UNC-76,  UNC76,  zygin I

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 Fez1 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 Fez1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Intellectual Developmental Disorder, Autosomal Recessive 3
Short attention span, Hyperactivity OMIM:608443
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short attention span, Hyperactivity DECIPHER:19
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Autism, Susceptibility To, X-Linked 3
Increased serum serotonin, Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adher... OMIM:300496
Autism, Susceptibility To, X-Linked 1
Increased serum serotonin, Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adher... OMIM:300425
Gilles De La Tourette Syndrome
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... OMIM:137580
Autism, Susceptibility To, 8
Increased serum serotonin, Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adher... OMIM:607373
Autism
Increased serum serotonin, Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adher... OMIM:209850
N-Acetylaspartate Deficiency
Short attention span, Broad-based gait, Unsteady gait, Truncal ataxia, Decreased body weight, Abn... OMIM:614063
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608631
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Large for gestational age, Bruxism, Aggressive behavior ORPHA:356996
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Unsteady gait, Increased serum serotonin, Truncal ataxia, Abnormal repetiti... OMIM:608636
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Overweight, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620065
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Autism, Susceptibility To, X-Linked 2
Increased serum serotonin, Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adher... OMIM:300495
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618709
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b... OMIM:613670
Hyperlysinemia, Type I
Short attention span, Hyperactivity, Cognitive impairment OMIM:238700
Pick Disease Of Brain
Frontotemporal dementia, Polyphagia, Disinhibition, Inappropriate laughter, Abnormal repetitive m... OMIM:172700
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Abnormal repetitive mannerisms OMIM:606053
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Frontotemporal dementia, ... ORPHA:275864
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Frontotemporal dementia, Inappropriate behavior, Disinhibition... OMIM:600795
Childhood Disintegrative Disorder
Social and occupational deterioration, Dementia, Progressive language deterioration, Mental deter... ORPHA:168782
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Intellectual Developmental Disorder, Autosomal Recessive 58
Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms OMIM:617270
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Abnormal repetitive mannerisms, Disinhibition, Frontotemporal dementia, Dysphagia OMIM:612069
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Abnormal repetitive mannerisms, Agitation, Aggressive behavior OMIM:617171
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Small for gestational age, Aggressive behavior, Gait ataxia, Failure to thrive, Ab... OMIM:609425
Hyperprolinemia, Type I
Hyperactivity, Abnormal repetitive mannerisms, Ataxia, Aggressive behavior OMIM:239500
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618906
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Ataxia, Aggressive behavior, Falls, Inappropriate laughter, Bruxism, Abnormal repetitive mannerisms OMIM:619150
Autism, Susceptibility To, 3
Increased serum serotonin, Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adher... OMIM:608049
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Gait ataxia, Dysphagia, Recurrent hand flapping, Abnormal repetitive mannerisms OMIM:617862
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Diminished ability to concentrate, Recurrent h... OMIM:615516
Pontocerebellar Hypoplasia, Type 11
Broad-based gait, Ataxia, Inability to walk, Limb ataxia, Self-injurious behavior, Attention defi... OMIM:617695
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Abnormal repetitive mannerisms, Broad-based gait, Aggressive behavior OMIM:619470
Foxg1 Syndrome
Inability to walk, Choreoathetosis, Difficulty walking, Bruxism, Cognitive impairment, Decreased ... ORPHA:561854
Developmental And Epileptic Encephalopathy 58
Inability to walk, Abnormal repetitive mannerisms OMIM:617830
Parasomnia, Sleep Bruxism Type
Bruxism OMIM:606840
Developmental And Epileptic Encephalopathy 107
Abnormal repetitive mannerisms OMIM:620033
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... OMIM:617044
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia, Obesity OMIM:613886
Shukla-Vernon Syndrome
Broad-based gait, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Abn... OMIM:301029
Insulin-Like Growth Factor I Deficiency
Short attention span, Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circu... OMIM:608747
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive mannerism... OMIM:618718
Kleine-Levin Syndrome
Confusion, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexualit... ORPHA:33543
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Inability to walk, Self-injurious behavior, Abnormal repetitive mannerisms OMIM:617820
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:615282
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Recurren... OMIM:617600
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Failure to thrive, Abnormal repetitive mannerisms, Difficulty walking OMIM:617393
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Short attention span, Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorde... OMIM:618342
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Hypersexuality, Frontotemporal dementia, Agitation, Disinhibition... OMIM:607485
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:615541
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, Progressive language deterioration, Attention deficit... OMIM:610042
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Attention deficit hyperactivity disorder, Recurrent hand flapping, Compulsive behaviors OMIM:620021
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Short attention span, Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorde... OMIM:620242
Developmental And Epileptic Encephalopathy 30
Abnormal repetitive mannerisms OMIM:616341
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Small for gestational age, Repetitive compulsive behavior, Compulsive behaviors, A... ORPHA:352490
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Ataxia, Small for gestational age, Failure to thrive in infancy, Gait disturbance,... OMIM:614104
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... OMIM:620292
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Short attention span, Hyperactivity, Hyperthyroidism, Diabetes mellitus, Aggressive behavior, Hyp... ORPHA:449291
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Ataxia, Confusion, Agitation, Cognitive impairment, Failure to thrive, Abnormal repetitive manner... ORPHA:927
Baker-Gordon Syndrome
Ataxia, Inability to walk, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms OMIM:618218
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Gait ataxia, Self-injurious behavior, Compulsive behaviors, Abnormal repetitiv... OMIM:618917
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Obsessive-compulsive trait, Abnormal repetitive mannerisms, Attention deficit hyperactivity disor... OMIM:618825
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:619690
Intellectual Developmental Disorder, Autosomal Recessive 71
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618504
Juvenile Neuronal Ceroid Lipofuscinosis
Dementia, Progressive language deterioration, Cognitive impairment, Dysphagia, Loss of ambulation... ORPHA:79264
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Short attention span, Ataxia, Impulsivity, Aggressive behavior, Inability to walk, Tongue thrusti... OMIM:619580
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Cognitive impairment, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder ORPHA:98784
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Short attention span, Diabetes mellitus, Overweight, Repetitive compulsive behavior, Attention de... ORPHA:391372
Primary Dystonia, Dyt13 Type
Abnormal repetitive mannerisms ORPHA:98807
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Attention deficit hyperactivity disorder, Ataxia, Abnormal repetitive mannerisms, Motor tics OMIM:619725
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Motor deterioration, Dementia, Gai... ORPHA:168491
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Aggressive behavior, Hypothyroidism, Obesity, Self-injurious behavior, Skin-pickin... OMIM:600430
Galloway-Mowat Syndrome 6
Decreased response to growth hormone stimulation test, Abnormal repetitive mannerisms, Decreased ... OMIM:618347
Developmental And Speech Delay Due To Sox5 Deficiency
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder... ORPHA:313892
Xq28 (MECP2) duplication
Inability to walk, Gait ataxia, Dysphagia, Failure to thrive, Abnormal repetitive mannerisms DECIPHER:45
Severe Intellectual Disability And Progressive Spastic Paraplegia
Waddling gait, Overweight, Abnormal repetitive mannerisms, Difficulty walking ORPHA:280763
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Failure to thrive, Ataxia, Aggressive behavior, Self-injurious behavior, Gait disturbance, Attent... OMIM:300986
Lopes-Maciel-Rodan Syndrome
Unsteady gait, Bruxism, Agitation, Dysphagia, Abnormal repetitive mannerisms OMIM:617435
Christianson Syndrome
Cachexia, Dysphagia, Gait ataxia, Inappropriate laughter, Truncal ataxia, Abnormal repetitive man... ORPHA:85278
Potocki-Lupski Syndrome
Hyperactivity, Small for gestational age, Oral-pharyngeal dysphagia, Abnormal repetitive manneris... OMIM:610883
Smith-Magenis Syndrome
Hyperactivity, Abnormality of the thyroid gland, Self hugging, Increased body weight, Head-bangin... OMIM:182290
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Short attention span, Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tongue t... ORPHA:98794
2Q23.1 Microdeletion Syndrome
Hyperactivity, Ataxia, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Parox... ORPHA:228402
Rett Syndrome
Inability to walk, Gait disturbance, Agitation, Difficulty walking, Increased serum leptin, Failu... ORPHA:778
Rett Syndrome
Cachexia, Gait apraxia, Bruxism, Gait ataxia, Truncal ataxia, Motor deterioration, Stereotypical ... OMIM:312750
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Aggressive behavior, Scissor gait, Dysmetria, Attention deficit hyperactivity disorder, Truncal a... OMIM:619121
Coffin-Siris Syndrome 6
Abnormal repetitive mannerisms, Tics, Attention deficit hyperactivity disorder OMIM:617808
Cri-Du-Chat Syndrome
Short attention span, Hyperactivity, Small for gestational age, Aggressive behavior, Difficulty w... OMIM:123450
48,Xxyy Syndrome
Ataxia, Hypergonadotropic hypogonadism, Obesity, Type II diabetes mellitus, Attention deficit hyp... ORPHA:10
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Aggressive behavior, Precocious puberty, Self-biting, Hypogonadism, Abnormal repet... ORPHA:3306
Developmental And Epileptic Encephalopathy 6B
Choreoathetosis, Inability to walk, Abnormal repetitive mannerisms, Ataxia OMIM:619317
Transketolase Deficiency
Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsive behaviors, Type I d... ORPHA:488618
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:615637
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased response to growth hormone stimulation test, Overweight, Gait disturbance, Abnormal rep... ORPHA:457240
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Obesity, Compulsive behaviors, Abnormal repetitive ma... OMIM:618430
Snijders Blok-Campeau Syndrome
Broad-based gait, Unsteady gait, Abnormal repetitive mannerisms, Attention deficit hyperactivity ... OMIM:618205
22Q11.2 Duplication Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Aplasia/Hypoplasia of t... ORPHA:1727
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Abnormal repetitive mannerisms, Abnormal temper tantrums ORPHA:530983
Cystinosis
Nephrogenic diabetes insipidus, Abnormal repetitive mannerisms, Gait disturbance, Delayed puberty... ORPHA:213
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... OMIM:168000
Houge-Janssens Syndrome 3
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618354
Intellectual Developmental Disorder, X-Linked 98
Hyperactivity, Failure to thrive, Ataxia, Aggressive behavior, Bulimia, Self-biting, Central hypo... OMIM:300912
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity, Small for gestational age, Overweight, Hypothyroidism, Pica, Obsessive-compulsive ... OMIM:617796
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Abnormal repetitive mannerisms, Ataxia, Gait ataxia OMIM:619092
Radio-Tartaglia Syndrome
Ataxia, Impulsivity, Aggressive behavior, Precocious puberty, Obesity, Gait imbalance, Attention ... OMIM:619312
Dentici-Novelli Neurodevelopmental Syndrome
Precocious puberty, Inability to walk, Abnormal repetitive mannerisms OMIM:619877
Chromosome 15Q11.2 Deletion Syndrome
Ataxia, Diminished ability to concentrate, Attention deficit hyperactivity disorder, Compulsive b... OMIM:615656
Cerebral Creatine Deficiency Syndrome 1
Broad-based gait, Aggressive behavior, Gait disturbance, Attention deficit hyperactivity disorder... OMIM:300352
Pheochromocytoma/Paraganglioma Syndrome 3
Extraadrenal pheochromocytoma, Chemodectoma, Adrenal pheochromocytoma, Glomus jugular tumor, Para... OMIM:605373
X-Linked Intellectual Disability, Cantagrel Type
Abnormal repetitive mannerisms ORPHA:85277
Smith-Magenis Syndrome
Failure to thrive in infancy, Precocious puberty, Hypothyroidism, Obesity, Self-injurious behavio... ORPHA:819
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior ORPHA:391307
Hijazi-Reis Syndrome
Abnormal repetitive mannerisms, Gait disturbance OMIM:301094
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Inability to walk, Abnormal repetitive mannerisms OMIM:613443
Proximal 16P11.2 Microdeletion Syndrome
Obesity, Choreoathetosis, Attention deficit hyperactivity disorder, Failure to thrive, Abnormal r... ORPHA:261197
Childhood Absence Epilepsy
Punding, Attention deficit hyperactivity disorder ORPHA:64280
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Ataxia, Repetitive compulsive behavior, Inability to walk, Bruxism, Dysphagia, Decreased body wei... OMIM:300260
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Aggressive behavior, Gait ataxia, Attention deficit hyperactivity disorder, Compulsive behaviors,... ORPHA:476126
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Dysphagia, Attention deficit ... OMIM:617061
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Short attention span, Overweight, Head-banging, Self-injurious behavior, Attention deficit hypera... OMIM:619575
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Frequent temper tantrums, Attention deficit hyperactivity disorder, Abnormal repetitive mannerism... OMIM:619103
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Inability to walk, Abnormal repetitive mannerisms ORPHA:411986
Alazami Syndrome
Abnormal repetitive mannerisms, Self-mutilation, Stereotypical hand wringing, Abnormal eating beh... ORPHA:319671
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Broad-based gait, Abnormal repetitive mannerisms, Difficulty walking, Gait ataxia OMIM:617807
Intellectual Developmental Disorder, Autosomal Dominant 34
Broad-based gait, Abnormal repetitive mannerisms, Bruxism OMIM:616351
Bilateral Generalized Polymicrogyria
Self-injurious behavior, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia ORPHA:208447
5Q14.3 Microdeletion Syndrome
Abnormal repetitive mannerisms ORPHA:228384
Developmental And Epileptic Encephalopathy 64
Inability to walk, Self-injurious behavior, Abnormal repetitive mannerisms, Bruxism OMIM:618004
Chromosome 5P13 Duplication Syndrome
Small for gestational age, Self-injurious behavior, Abnormal repetitive mannerisms, Compulsive be... OMIM:613174
Blepharophimosis-Impaired Intellectual Development Syndrome
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Overfriendliness OMIM:619293
Coffin-Siris Syndrome 7
Abnormal repetitive mannerisms, Hyperactivity, Severe temper tantrums, Compulsive behaviors OMIM:618027
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Precocious puberty, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620073
Den Hoed-De Boer-Voisin Syndrome
Short attention span, Ataxia, Overweight, Inability to walk, Obesity, Agitation, Dysphagia, Decre... OMIM:619229
Developmental And Epileptic Encephalopathy 66
Broad-based gait, Abnormal repetitive mannerisms OMIM:618067
Intellectual Developmental Disorder, Autosomal Dominant 48
Hyperactivity, Abnormal repetitive mannerisms OMIM:617751
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms, Impulsivity, Aggressive behavior OMIM:618914
Wiedemann-Steiner Syndrome
Psychomotor deterioration, Short attention span, Hyperactivity, Decreased response to growth horm... ORPHA:319182
Ritscher-Schinzel Syndrome 4
Ataxia, Impulsivity, Aggressive behavior, Athetosis, Dysphagia, Abnormal repetitive mannerisms OMIM:619435
2Q37 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Obesity, Compulsive beh... ORPHA:1001
Pure Autonomic Failure
Abnormality of circulating catecholamine level ORPHA:441
4Q21 Microdeletion Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms ORPHA:238750
Rauch-Steindl Syndrome
Hyperactivity, Failure to thrive, Abnormal repetitive mannerisms, Aggressive behavior OMIM:619695
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms ORPHA:397612
3P25.3 Microdeletion Syndrome
Ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder ORPHA:435638
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation, Gait ataxia OMIM:300486
Niemann-Pick Disease, Type C2
Dementia, Abnormal repetitive mannerisms, Ataxia, Dysphagia OMIM:607625
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Abnormal repetitive mannerisms ORPHA:529965
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Diabetes mellitus, Abnormal repetitive mannerisms ORPHA:500159
White-Sutton Syndrome
Waddling gait, Hyperactivity, Aggressive behavior, Obesity, Self-injurious behavior, Tics, Failur... OMIM:616364
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Inability to walk, Abnormal repetitive mannerisms, Dysphagia OMIM:617802
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Abnormal repetitive mannerisms, Dysphagia ORPHA:572013
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Abnormal repetitive mannerisms, Ataxia OMIM:619428
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Gait ataxia, Abnormal repetitive mannerisms, Overfriendliness OMIM:616579
Pilarowski-Bjornsson Syndrome
Abnormal repetitive mannerisms OMIM:617682
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Abnormal repetitive mannerisms, Self-mutilation, Attention deficit hyperactivity disorder, Decrea... OMIM:619005
Intellectual Developmental Disorder, Autosomal Dominant 38
Ataxia, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive ... OMIM:616393
Congenital Disorder Of Glycosylation, Type Iia
Aggressive behavior, Unsteady gait, Failure to thrive, Abnormal repetitive mannerisms, Self-mutil... OMIM:212066
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Failure to thrive, Abnormal repetitive mannerisms, Inappropriate laughter OMIM:615802
Kleefstra Syndrome 1
Abnormal repetitive mannerisms, Obesity, Compulsive behaviors, Aggressive behavior OMIM:610253
Prader-Willi Syndrome Due To Translocation
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Anterior pi... ORPHA:177907
Hydroxykynureninuria
Abnormal repetitive mannerisms ORPHA:79155
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Tics, Compulsive behaviors, Abnormal repetitive mannerisms, Restrictive behavior, Hyperactivity, ... OMIM:619475
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Inability to walk, Abnormal repetitive mannerisms, Short attention span ORPHA:300570
Nmda Receptor Encephalitis
Short attention span, Confusion, Neoplasm of the thymus, Hypersexuality, Choreoathetosis, Agitati... ORPHA:217253
Phelan-Mcdermid Syndrome
Broad-based gait, Aggressive behavior, Unsteady gait, Tongue thrusting, Bruxism, Abnormal repetit... OMIM:606232
White-Sutton Syndrome
Hyperactivity, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive behaviors, Abnor... ORPHA:468678
Rett Syndrome, Congenital Variant
Athetosis, Tongue thrusting, Abnormal repetitive mannerisms, Bruxism OMIM:613454
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ataxia, Aggressive behavior, Unsteady gait, Abnormal temper tantrums, Abnormal repetitive mannerisms ORPHA:457279
Joubert Syndrome 6
Abnormal repetitive mannerisms, Ataxia OMIM:610688
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Small for gestational age, Posterior pituitary hypoplasia, Gait disturbance, Attention deficit hy... ORPHA:464311
Bainbridge-Ropers Syndrome
Failure to thrive, Precocious puberty, Inability to walk, Self-injurious behavior, Recurrent hand... OMIM:615485
Foxg1 Syndrome Due To 14Q12 Microdeletion
Abnormal repetitive mannerisms ORPHA:261144
Megalocornea-Intellectual Disability Syndrome
Hypothyroidism, Abnormal repetitive mannerisms, Ataxia ORPHA:2479
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Short attention span, Aggressive behavior, Precocious puberty, Obesity, Abnormal repetitive manne... OMIM:301066
Mucopolysaccharidosis Type 2
Short attention span, Hyperactivity, Impulsivity, Aggressive behavior, Progressive neurologic det... ORPHA:580
Van Esch-O'Driscoll Syndrome
Hypogonadotropic hypogonadism, Attention deficit hyperactivity disorder, Abnormal repetitive mann... OMIM:301030
Kleefstra Syndrome
Aggressive behavior, Obesity, Self-injurious behavior, Abnormal repetitive mannerisms, Self-mutil... ORPHA:261494
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Decreased response to growth hormone stimulation test, Abnormal repetitive manneri... OMIM:615873
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Inability to walk, Self-injurious behavior, Abnormal repetitive mannerisms ORPHA:457351
7Q11.23 Microduplication Syndrome
Hyperactivity, Collectionism, Aggressive behavior, Unsteady gait, Polyphagia, Obesity, Dysmetria,... ORPHA:96121
Tuberous Sclerosis Complex
Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Pancreatic endoc... ORPHA:805
Developmental And Epileptic Encephalopathy 2
Inability to walk, Abnormal repetitive mannerisms OMIM:300672
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Ataxia, Repetitive compulsive behavior, Self-biting, Choreoathetosis, Abnormal repetitive manneri... ORPHA:522077
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Ataxia, Aggressive behavior, Unsteady gait, Dysmetria, Gait atax... OMIM:614756
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hyperactivity, Self-injurious behavior, Compulsive behaviors, Frequent temper tantrums, Failure t... OMIM:619512
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ... ORPHA:353281
Dyrk1A-Related Intellectual Disability Syndrome
Hyperactivity, Small for gestational age, Anterior pituitary hypoplasia, Gait disturbance, Failur... ORPHA:464306
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Abnormal repetitive mannerisms, Ataxia, Dysphagia ORPHA:496641
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Hyperactivity, Abnormal repetitive mannerisms, Dysphagia ORPHA:447997
Pitt-Hopkins Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms, Gait ataxia OMIM:610954
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Broad-based gait, Repetitive compulsive behavior, Gait ataxia, Pineal cyst, Stereotypical body ro... ORPHA:513456
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Diabetes insipidus, Self-injurious behavior, Abnormal circulating calcium-ph... ORPHA:534
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Broad-based gait, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious beha... OMIM:620330
Kinsship Syndrome
Failure to thrive, Abnormal repetitive mannerisms, Bruxism OMIM:619297
Hypotonia, Ataxia, And Delayed Development Syndrome
Broad-based gait, Ataxia, Truncal ataxia, Dysmetria, Gait ataxia, Dysphagia, Abnormal repetitive ... OMIM:617330
Norrie Disease
Diabetes mellitus, Cachexia, Self-injurious behavior, Attention deficit hyperactivity disorder, D... ORPHA:649
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Abnormal repetitive mannerisms, Obesity, Difficulty walking OMIM:618653
Developmental And Epileptic Encephalopathy 100
Gait ataxia, Abnormal repetitive mannerisms, Choreoathetosis, Dysphagia OMIM:619777
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Inability to walk, Abnormal repetitive mannerisms ORPHA:508533
Von Hippel-Lindau Disease
Pancreatic islet cell adenoma, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Paragangliom... ORPHA:892
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Severe failure to thrive, Self-injurious behavior, Abnormal repetitive mannerisms ORPHA:468631
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Abnormal repetitive mannerisms OMIM:301040
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ... ORPHA:353277
Primrose Syndrome
Restlessness, Diabetes mellitus, Ataxia, Hypergonadotropic hypogonadism, Aggressive behavior, Hyp... OMIM:259050
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Small for gestational age, Hyperactivity, Abnormal repetitive mannerisms OMIM:309590
1P36 Deletion Syndrome
Hypothyroidism, Polyphagia, Obesity, Self-injurious behavior, Gait disturbance, Hypogonadism, Dys... ORPHA:1606
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Loss of ambulation, Precocious puberty, Unsteady gait, Abnormal repetitive mannerisms OMIM:616682
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Abnormal repetitive mannerisms ORPHA:508498
Ogden Syndrome
Abnormal repetitive mannerisms, Maternal diabetes, Dysphagia OMIM:300855
Arboleda-Tham Syndrome
Abnormal repetitive mannerisms, Gait imbalance, Dysphagia OMIM:616268
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Self-injurious behavior, Failure to thrive, Abnormal repetitive mannerisms, Truncal obesity OMIM:612474
Lowe Oculocerebrorenal Syndrome
Failure to thrive, Abnormal repetitive mannerisms, Aggressive behavior OMIM:309000
Wolf-Hirschhorn Syndrome
Precocious puberty, Failure to thrive, Abnormal repetitive mannerisms, Small for gestational age OMIM:194190
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Dysphagia OMIM:619522
Coffin-Siris Syndrome 12
Hypothyroidism, Failure to thrive, Abnormal repetitive mannerisms OMIM:619325
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Abnormal repetitive mannerisms OMIM:301044
Mowat-Wilson Syndrome
Broad-based gait, Ataxia, Inability to walk, Bruxism, Dysphagia, Decreased body weight, Abnormal ... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Broad-based gait, Inability to walk, Bruxism, Dysphagia, Failure to thrive, Abnormal repetitive m... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Broad-based gait, Inability to walk, Bruxism, Dysphagia, Failure to thrive, Abnormal repetitive m... 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 Fez1

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 Fez1.

No publications found that use IMPC mice or data for Fez1.

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
Fez1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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