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Gene: Usf1 MGI:99542

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Gene Summary

Name:
upstream transcription factor 1
Synonyms:
upstream stimulatory factor,  bHLHb11

Order Alleles

IMPC Data Collections

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.

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Viewing: all phenotypes
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Viewing: all phenotypes

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 Usf1 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 Usf1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Recessive 2
Self-injurious behavior, Attention deficit hyperactivity disorder, Seizure OMIM:607417
Microcephaly 9, Primary, Autosomal Recessive
Self-injurious behavior, Seizure, Aggressive behavior, Motor tics, Compulsive behaviors, Impulsivity OMIM:614852
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Focal impaired awareness seizure, Seizure, Epileptic spasm, Tonic seizur... OMIM:619970
Trichotillomania
Compulsive behaviors, Hair-pulling OMIM:613229
Gilles De La Tourette Syndrome
Phonic tics, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Moto... OMIM:137580
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Seizure, Infantile spasms, Aggressive behavior, Hyperactivity OMIM:619031
Obsessive-Compulsive Disorder
Compulsive behaviors, Skin-picking, Collectionism OMIM:164230
Developmental And Epileptic Encephalopathy 31A
Self-injurious behavior, Myoclonic seizure, Epileptic spasm, Tonic seizure, Bilateral tonic-cloni... OMIM:616346
Intellectual Developmental Disorder, Autosomal Dominant 38
Self-injurious behavior, Bruxism, Infantile spasms, Hair-pulling, Generalized tonic seizure, Aggr... OMIM:616393
Developmental And Epileptic Encephalopathy 59
Self-injurious behavior, Focal clonic seizure, Infantile spasms, Tonic seizure, Bilateral tonic-c... OMIM:617904
Brunner Syndrome
Self-injurious behavior, Aggressive behavior, Impulsivity OMIM:300615
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Self-injurious behavior, Convulsive status epilepticus, Focal-onset seizure, Stereotypical hand w... OMIM:618760
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Generalized myoclonic seizure, Seizure, Aggressive behavior, Hyperactivi... ORPHA:382
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Motor stereotypy, Clonic seizure, Seizure OMIM:615282
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Self-injurious behavior, Seizure, Stereotypical hand wringing ORPHA:397933
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Self-injurious behavior, Seizure, Myoclonus, Aggressive behavior, Focal tonic seizure OMIM:300699
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Aggressive behavior, Pica, Motor stereotypy OMIM:617270
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Self-injurious behavior, Febrile seizure (within the age range of 3 months to 6 years), Stereotyp... OMIM:618917
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Inappropriate behavior, Seizure, Generalized-onset seizure, Aggressive b... OMIM:619827
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Infantile spasms, Hair-pulling, Motor stereotypy, Hyperactivity, Bilateral tonic-clonic seizure, ... ORPHA:447997
N-Acetylaspartate Deficiency
Self-mutilation, Motor stereotypy, Seizure OMIM:614063
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Motor stereotypy, Seizure OMIM:617820
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) ... OMIM:271980
Intellectual Developmental Disorder, Autosomal Recessive 76
Self-injurious behavior, Seizure OMIM:619931
Intellectual Developmental Disorder, Autosomal Recessive 77
Self-biting OMIM:619988
O'Donnell-Luria-Rodan Syndrome
Self-injurious behavior, Skin-picking, Aggressive behavior, Seizure OMIM:618512
Bilateral Generalized Polymicrogyria
Self-injurious behavior, Generalized myoclonic seizure, Typical absence seizure, Oral-pharyngeal ... ORPHA:208447
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Self-injurious behavior OMIM:613641
Developmental And Epileptic Encephalopathy 36
Myoclonic seizure, Seizure, Infantile spasms, Self-mutilation, Tonic seizure, Atonic seizure OMIM:300884
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Self-injurious behavior, Myoclonic seizure, Seizure, Epileptic spasm, Inappropriate laughter, Bru... OMIM:614254
Intellectual Developmental Disorder, Autosomal Recessive 46
Self-injurious behavior, Aggressive behavior, Agitation, Seizure OMIM:616116
Coffin-Siris Syndrome 8
Self-injurious behavior, Aggressive behavior, Hyperactivity, Seizure OMIM:618362
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Myoclonic seizure, Motor stereotypy OMIM:619690
Intellectual Developmental Disorder, Autosomal Recessive 38
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Recurrent hand flapping, ... OMIM:615516
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Seizure, Generalized-onset seizure, Self-mutilation, Aggressive behavior, Hyperactivity, Bilatera... OMIM:604317
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Self-injurious behavior, Inflexible adherence to routines, Aggressive behavior, Attention deficit... OMIM:613670
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Self-injurious behavior, Myoclonic seizure, Fixated interests, Generalized non-motor (absence) se... OMIM:620330
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Seizure, Bruxism, Motor stereotypy, Hyperactivity, Paroxysmal bursts of ... OMIM:618718
Clcn4-Related X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Seizure, Generalized non-motor (absence) seizure, Infantile spasms, Myoc... ORPHA:485350
Intellectual Developmental Disorder, Autosomal Dominant 39
Generalized non-motor (absence) seizure, Self-mutilation, Polyphagia, Aggressive behavior, Focal ... OMIM:616521
Choreoacanthocytosis
Self-injurious behavior, Phonic tics, Head-banging, Seizure, Bruxism, Hair-pulling, Aggressive be... ORPHA:2388
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Generalized non-motor (absence) seizure, Generalized-onset seizure, Bila... OMIM:615637
Kleefstra Syndrome 2
Self-injurious behavior, Seizure OMIM:617768
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Seizure, Aggressive behavior, Hyperactivity, Compulsive behaviors OMIM:619467
Parenti-Mignot Neurodevelopmental Syndrome
Self-injurious behavior, Seizure, Skin-picking, Attention deficit hyperactivity disorder, Aggress... OMIM:619873
Intellectual Developmental Disorder, Autosomal Recessive 43
Self-injurious behavior OMIM:615817
Intellectual Developmental Disorder, Autosomal Recessive 48
Aggressive behavior, Inappropriate laughter, Self-mutilation OMIM:616269
Neurodevelopmental Disorder With Involuntary Movements
Self-injurious behavior, Infantile spasms, Bilateral tonic-clonic seizure, Dysphagia, Focal impai... OMIM:617493
Monosomy 22Q13.3
Bruxism, Hyperactivity, Seizure, Hair-pulling ORPHA:48652
Phenylketonuria
Seizure, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact... OMIM:261600
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Seizure, Generalized-onset seizure, Hyperactivity, Self-biting, Status epilepticus OMIM:618314
Cornelia De Lange Syndrome 6
Compulsive behaviors, Hair-pulling OMIM:620568
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Generalized-onset seizure, Self-injurious behavior, Recurrent hand flapping, Seizure OMIM:617268
Neurodevelopmental Disorder With Dystonia And Seizures
Self-injurious behavior, Seizure OMIM:619922
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Seizure, Polyphagia, Paroxysmal bursts of laughter, Hyperactivity, Motor... ORPHA:228402
Pontocerebellar Hypoplasia, Type 11
Self-injurious behavior, Seizure, Attention deficit hyperactivity disorder, Dysphagia, Motor ster... OMIM:617695
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities
Seizure, Self-mutilation, Hyperactivity, Paroxysmal bursts of laughter, Impulsivity OMIM:620445
Developmental And Speech Delay Due To Sox5 Deficiency
Self-injurious behavior, Seizure, Aggressive behavior, Attention deficit hyperactivity disorder, ... ORPHA:313892
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Seizure, Stereotypical hand wringing, Skin-picking, Aggressive behavior,... OMIM:600430
Fragile X Syndrome
Self-biting, Recurrent hand flapping, Hyperactivity, Seizure OMIM:300624
Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects
Aggressive behavior, Restlessness, Dysphagia, Self-mutilation OMIM:615075
17Q12 Microduplication Syndrome
Self-injurious behavior, Seizure ORPHA:261272
Houge-Janssens Syndrome 3
Self-injurious behavior, Generalized non-motor (absence) seizure, Focal-onset seizure, Attention ... OMIM:618354
Chromosome 19P13.13 Deletion Syndrome
Self-injurious behavior, Seizure OMIM:613638
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Compulsive b... OMIM:617044
Intellectual Developmental Disorder, Autosomal Dominant 59
Self-mutilation, Seizure OMIM:618522
Spinocerebellar Ataxia, Autosomal Recessive 31
Bruxism, Self-mutilation, Dysphagia, Seizure OMIM:619422
Baker-Gordon Syndrome
Self-injurious behavior, Motor stereotypy OMIM:618218
Classic Phenylketonuria
Self-injurious behavior, Attention deficit hyperactivity disorder, Seizure ORPHA:79254
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Self-injurious behavior, Agitation OMIM:618339
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, Motor stereotypy, Seizure ORPHA:397612
Neurodevelopmental Disorder With Absent Language And Variable Seizures
Self-injurious behavior, Seizure OMIM:618707
Lesch-Nyhan Phenotype With Normal Hgprt
Self-mutilation OMIM:308950
3-Methylglutaconic Aciduria, Type I
Self-mutilation, Febrile seizure (within the age range of 3 months to 6 years) OMIM:250950
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal temper tantrums, Seizure, Focal-onset seizure, Self-mutilation, Stereotypical hand wring... ORPHA:163681
Developmental And Epileptic Encephalopathy 64
Self-injurious behavior, Seizure, Bruxism, Motor stereotypy, Status epilepticus OMIM:618004
Fragile X Syndrome
Self-injurious behavior, Attention deficit hyperactivity disorder, Seizure ORPHA:908
Joubert Syndrome 20
Aggressive behavior, Self-mutilation OMIM:614970
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Seizure, Recurrent hand flapping, Aggressive b... ORPHA:449291
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:620023
Smith-Magenis Syndrome
Head-banging, Seizure, Onychotillomania, Self-mutilation, Hyperactivity, Self hugging, Motor ster... OMIM:182290
Inverted Duplicated Chromosome 15 Syndrome
Seizure, Aggressive behavior, Hyperactivity, Self-biting, Motor stereotypy ORPHA:3306
Angelman Syndrome
Self-injurious behavior, Seizure, Inappropriate laughter, Infantile spasms, Myoclonus, Recurrent ... ORPHA:72
Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome
Self-injurious behavior, Abnormal temper tantrums, Aggressive behavior, Seizure ORPHA:404473
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Bilateral tonic-clonic seizure, Self-mutilation, Motor stereotypy, Seizure ORPHA:457240
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Self-injurious behavior, Seizure, Recurrent hand flapping, Aggressive behavior, Attention deficit... OMIM:300986
Alazami Syndrome
Seizure, Abnormal eating behavior, Self-mutilation, Stereotypical hand wringing, Motor stereotypy ORPHA:319671
4Q21 Microdeletion Syndrome
Self-injurious behavior, Motor stereotypy, Seizure ORPHA:238750
Intellectual Developmental Disorder, X-Linked 98
Generalized non-motor (absence) seizure, Bulimia, Bruxism, Stereotypical body rocking, Infantile ... OMIM:300912
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Self-injurious behavior, Aggressive behavior, Seizure OMIM:300860
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Self-injurious behavior, Myoclonic seizure OMIM:620469
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Self-injurious behavior, Aggressive behavior, Tonic seizure, Hyperactivity OMIM:620075
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1
Self-biting, Restlessness, Status epilepticus, Seizure OMIM:614388
Chromosome 5P13 Duplication Syndrome
Self-injurious behavior, Motor stereotypy, Seizure, Compulsive behaviors OMIM:613174
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Self-injurious behavior, Seizure, Aggressive behavior, Attention deficit hyperactivity disorder, ... OMIM:617061
Gomez-Lopez-Hernandez Syndrome
Self-injurious behavior, Hyperactivity, Seizure OMIM:601853
15Q11.2 Microdeletion Syndrome
Self-injurious behavior, Attention deficit hyperactivity disorder, Seizure ORPHA:261183
Keratoderma Hereditarium Mutilans
Self-injurious behavior ORPHA:494
Adenylosuccinase Deficiency
Seizure, Inappropriate laughter, Myoclonus, Self-mutilation, Aggressive behavior, Hyperactivity OMIM:103050
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Generalized non-motor (absence) seizure, Inappropriate laughter, Obsessive-compulsive trait, Self... ORPHA:363686
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Self-injurious behavior, Seizure ORPHA:435938
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Self-injurious behavior, Seizure, Generalized non-motor (absence) seizure, Infantile spasms, Bila... ORPHA:457351
Schaaf-Yang Syndrome
Skin-picking, Polyphagia, Impulsivity, Seizure OMIM:615547
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Self-injurious behavior, Infantile spasms, Attention deficit hyperactivity disorder, Focal impair... OMIM:618929
Rere-Related Neurodevelopmental Syndrome
Self-injurious behavior, Attention deficit hyperactivity disorder, Dysphagia, Seizure ORPHA:494344
Tonne-Kalscheuer Syndrome
Self-injurious behavior, Aggressive behavior, Dysphagia OMIM:300978
Microhydranencephaly
Generalized myoclonic seizure, Self-mutilation OMIM:605013
19P13.3 Microduplication Syndrome
Self-injurious behavior, Hyperactivity, Febrile seizure (within the age range of 3 months to 6 ye... ORPHA:447980
X-Linked Intellectual Disability Due To Gria3 Mutations
Seizure, Myoclonus, Self-mutilation, Aggressive behavior, Bilateral tonic-clonic seizure, Status ... ORPHA:364028
Fliedner-Zweier Syndrome
Self-injurious behavior, Aggressive behavior, Seizure OMIM:620511
X-Linked Creatine Transporter Deficiency
Self-mutilation, Hyperactivity, Seizure ORPHA:52503
Congenital Insensitivity To Pain With Severe Intellectual Disability
Self-mutilation, Bilateral tonic-clonic seizure ORPHA:453510
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Self-injurious behavior, Seizure ORPHA:371364
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Self-injurious behavior, Aggressive behavior, Motor stereotypy, Impulsivity OMIM:618914
Early Infantile Epileptic Encephalopathy
Self-injurious behavior, Seizure, Generalized non-motor (absence) seizure, Febrile seizure (withi... ORPHA:1934
Intellectual Developmental Disorder, Autosomal Dominant 1
Self-injurious behavior, Seizure, Febrile seizure (within the age range of 3 months to 6 years), ... OMIM:156200
Pettigrew Syndrome
Self-injurious behavior, Aggressive behavior, Seizure, Stereotypical hand wringing OMIM:304340
Temtamy Syndrome
Self-mutilation, Seizure OMIM:218340
Smith-Magenis Syndrome
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Seizure ORPHA:819
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Self-mutilation, Motor stereotypy, Hyperactivity, Seizure OMIM:300486
19P13.12 Microdeletion Syndrome
Self-injurious behavior, Hyperactivity, Seizure ORPHA:254346
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Self-mutilation, Seizure ORPHA:3041
Lesch-Nyhan Syndrome
Self-injurious behavior, Dysphagia, Seizure OMIM:300322
Intellectual Developmental Disorder, Autosomal Dominant 29
Self-injurious behavior, Seizure, Febrile seizure (within the age range of 3 months to 6 years), ... OMIM:616078
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Abnormal temper tantrums, Seizure, Obsessive-compulsive trait, Skin-picking, Attention deficit hy... ORPHA:500055
White-Sutton Syndrome
Self-injurious behavior, Overfriendliness, Aggressive behavior, Hyperactivity, Hypoglycemic seizu... OMIM:616364
White-Sutton Syndrome
Self-injurious behavior, Seizure, Febrile seizure (within the age range of 3 months to 6 years), ... ORPHA:468678
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Self-injurious behavior, Seizure, Aggressive behavior, Attention deficit hyperactivity disorder, ... OMIM:620494
Kleefstra Syndrome Due To A Point Mutation
Self-injurious behavior, Seizure ORPHA:261652
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Self-injurious behavior, Recurrent hand flapping OMIM:617101
21Q22.11Q22.12 Microdeletion Syndrome
Self-injurious behavior, Seizure, Bruxism, Stereotypical body rocking, Tongue thrusting, Hyperact... ORPHA:261323
Nabais Sa-De Vries Syndrome, Type 1
Self-injurious behavior OMIM:618828
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Self-injurious behavior, Non-convulsive status epilepticus without coma, Seizure, Aggressive beha... ORPHA:544488
16P12.1P12.3 Triplication Syndrome
Nail-biting, Skin-picking, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:485405
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Self-mutilation, Dysphagia, Status epilepticus, Seizure OMIM:618922
Distal Xq28 Microduplication Syndrome
Stereotypical body rocking, Aggressive behavior, Attention deficit hyperactivity disorder, Self-b... ORPHA:293939
Cri-Du-Chat Syndrome
Oppositional defiant disorder, Self-mutilation, Overfriendliness, Aggressive behavior, Hyperactiv... OMIM:123450
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Self-injurious behavior, Head-banging, Seizure, Frequent temper tantrums, Attention deficit hyper... OMIM:619575
Kleefstra Syndrome
Self-injurious behavior, Seizure, Self-mutilation, Aggressive behavior, Motor stereotypy ORPHA:261494
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Self-injurious behavior, Aggressive behavior OMIM:619833
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Seizure, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Compulsi... ORPHA:476126
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Self-injurious behavior, Abnormal temper tantrums, Seizure, Bulimia, Obsessive-compulsive trait, ... ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Self-injurious behavior, Abnormal temper tantrums, Seizure, Bulimia, Obsessive-compulsive trait, ... ORPHA:177904
Harlequin Ichthyosis
Self-injurious behavior ORPHA:457
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Self-injurious behavior, Abnormal temper tantrums, Seizure, Bulimia, Obsessive-compulsive trait, ... ORPHA:177901
16P13.11 Microdeletion Syndrome
Generalized-onset seizure, Self-injurious behavior, Compulsive behaviors ORPHA:261236
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Self-injurious behavior, Seizure, Generalized non-motor (absence) seizure, Febrile seizure (withi... ORPHA:466943
Transketolase Deficiency
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Compulsive b... ORPHA:488618
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Self-injurious behavior, Abnormal temper tantrums, Seizure, Bulimia, Polyphagia, Skin-picking ORPHA:98754
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Self-injurious behavior, Typical absence seizure, Aggressive behavior, Attention deficit hyperact... ORPHA:466950
Tuberous Sclerosis Complex
Self-injurious behavior, Seizure, Epileptic spasm, Infantile spasms, Focal-onset seizure, Aggress... ORPHA:805
1P21.3 Microdeletion Syndrome
Self-injurious behavior, Aggressive behavior, Abnormal eating behavior, Self-mutilation ORPHA:293948
Congenital Disorder Of Glycosylation, Type Iia
Seizure, Self-mutilation, Stereotypical hand wringing, Aggressive behavior, Motor stereotypy OMIM:212066
Bainbridge-Ropers Syndrome
Self-injurious behavior, Motor stereotypy, Recurrent hand flapping, Seizure OMIM:615485
Microphthalmia, Lenz Type
Self-injurious behavior, Seizure ORPHA:568
Coffin-Lowry Syndrome
Self-injurious behavior, Seizure ORPHA:192
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Self-injurious behavior, Myoclonic seizure, Frequent temper tantrums, Tonic seizure, Hyperactivit... OMIM:619512
13Q12.3 Microdeletion Syndrome
Hyperactivity, Self-mutilation ORPHA:412035
Pitt-Hopkins Syndrome
Self-injurious behavior, Motor stereotypy, Seizure OMIM:610954
Aicardi-Goutieres Syndrome 1
Self-mutilation, Seizure OMIM:225750
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Seizure, Self-mutilation, Polyphagia, Aggressive behavior, Restlessness ORPHA:251028
7Q11.23 Microduplication Syndrome
Self-injurious behavior, Seizure, Aggressive behavior, Polyphagia, Hyperactivity, Collectionism, ... ORPHA:96121
Sim1-Related Prader-Willi-Like Syndrome
Abnormal temper tantrums, Polyphagia, Skin-picking, Seizure ORPHA:398079
Magel2-Related Prader-Willi-Like Syndrome
Abnormal temper tantrums, Seizure, Polyphagia, Skin-picking, Compulsive behaviors, Impulsivity ORPHA:398069
Prader-Willi Syndrome
Self-injurious behavior, Polyphagia, Attention deficit hyperactivity disorder, Seizure OMIM:176270
Alexander Disease
Self-injurious behavior, Dysphagia, Seizure ORPHA:58
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Attention deficit hyperactivity disorder, Motor stereotypy, Seizure, Self-mutilation OMIM:619005
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Seizure ORPHA:847
Prader-Willi Syndrome Due To Translocation
Abnormal temper tantrums, Head-banging, Seizure, Skin-picking, Attention deficit hyperactivity di... ORPHA:177907
Joubert Syndrome 1
Aggressive behavior, Hyperactivity, Self-mutilation, Hemifacial spasm OMIM:213300
Pitt-Hopkins Syndrome
Self-injurious behavior, Aggressive behavior, Seizure ORPHA:2896
Aicardi-Goutieres Syndrome 9
Self-mutilation, Seizure OMIM:619487
Autoerythrocyte Sensitization Syndrome
Self-injurious behavior, Obsessive-compulsive trait ORPHA:324636
Insensitivity To Pain, Congenital, With Anhidrosis
Hyperactivity, Self-mutilation OMIM:256800
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Self-injurious behavior, Motor stereotypy, Seizure ORPHA:468631
Cornelia De Lange Syndrome 1
Self-injurious behavior, Seizure OMIM:122470
Cerebrofacioarticular Syndrome
Self-injurious behavior ORPHA:314679
Intellectual Developmental Disorder, Autosomal Dominant 73
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Recurrent hand flapping, ... OMIM:620450
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Self-injurious behavior, Polydipsia, Seizure, Polyphagia, Aggressive behavior, Compulsive behaviors ORPHA:293987
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Self-mutilation, Repetitive compulsive behavior, Motor stereotypy, Self-biting ORPHA:522077
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Aggressive behavior, Inappropriate laughter, Self-mutilation ORPHA:457212
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Abnormal fear-induced behavior, Seizure, Aggressive behavior, Hyperactiv... ORPHA:353281
Distal Deletion 6P
Self-injurious behavior ORPHA:96125
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Seizure, Bruxism, Self-mutilation, Stereotypical hand wringing, Impulsivity, Attention deficit hy... OMIM:619950
Deeah Syndrome
Self-mutilation, Dysphagia, Seizure OMIM:619004
Oculocerebrorenal Syndrome Of Lowe
Self-injurious behavior, Seizure, Attention deficit hyperactivity disorder, Compulsive behaviors,... ORPHA:534
Smith-Lemli-Opitz Syndrome
Self-injurious behavior, Attention deficit hyperactivity disorder, Seizure ORPHA:818
Distal Deletion 12Q
Generalized tonic seizure, Obsessive-compulsive trait, Self-mutilation, Hyperactivity ORPHA:96149
1P36 Deletion Syndrome
Self-injurious behavior, Seizure, Polyphagia, Dysphagia, Motor stereotypy ORPHA:1606
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Self-injurious behavior, Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic... OMIM:612474
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Abnormal fear-induced behavior, Seizure, Aggressive behavior, Hyperactiv... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Abnormal fear-induced behavior, Seizure, Aggressive behavior, Hyperactiv... ORPHA:353277
Duplication Of The Pituitary Gland
Self-mutilation ORPHA:314621
Ramos-Arroyo Syndrome
Self-mutilation ORPHA:1051
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Attention deficit hyperactivity disorder, Self-mutilation OMIM:213980
Chilton-Okur-Chung Neurodevelopmental Syndrome
Self-injurious behavior, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:619841
Smith-Lemli-Opitz Syndrome
Aggressive behavior, Self-mutilation, Hyperactivity, Seizure OMIM:270400
Chromosome 1P36 Deletion Syndrome, Distal
Seizure, Epileptic spasm, Infantile spasms, Oppositional defiant disorder, Self-mutilation, Aggre... OMIM:607872
Rubinstein-Taybi Syndrome 1
Impulsivity, Self-mutilation, Hyperactivity, Seizure OMIM:180849
Primrose Syndrome
Self-injurious behavior, Seizure, Aggressive behavior, Attention deficit hyperactivity disorder, ... OMIM:259050
Norrie Disease
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Seizure ORPHA:649
Hereditary Sensory And Autonomic Neuropathy Type 4
Self-mutilation, Hyperactivity, Nail-biting, Dysphagia, Impulsivity ORPHA:642
Alzahrani-Kuwahara Syndrome
Self-mutilation OMIM:619268
Charge Syndrome
Dysphagia, Self-mutilation OMIM:214800
Microphthalmia, Syndromic 1
Aggressive behavior, Self-mutilation, Seizure OMIM:309800

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 Usf1

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 Usf1.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Usf1tm1b(KOMP)Wtsi PMC7263671

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Usf1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Usf1tm96672(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Usf1tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Usf1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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