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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
Seizure, Self-injurious behavior, Attention deficit hyperactivity disorder OMIM:607417
Microcephaly 9, Primary, Autosomal Recessive
Impulsivity, Aggressive behavior, Seizure, Self-injurious behavior, Compulsive behaviors, Motor tics OMIM:614852
Developmental And Epileptic Encephalopathy 104
Epileptic spasm, Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Se... OMIM:619970
Gilles De La Tourette Syndrome
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... OMIM:137580
Trichotillomania
Hair-pulling, Compulsive behaviors OMIM:613229
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Infantile spasms, Aggressive behavior, Self-injurious behavior, Seizure OMIM:619031
Obsessive-Compulsive Disorder
Collectionism, Compulsive behaviors, Skin-picking OMIM:164230
Developmental And Epileptic Encephalopathy 31A
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Atypical absence status epileptic... OMIM:616346
Developmental And Epileptic Encephalopathy 59
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Self-injurious behavior, Focal c... OMIM:617904
Intellectual Developmental Disorder, Autosomal Dominant 38
Infantile spasms, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal r... OMIM:616393
Brunner Syndrome
Self-injurious behavior, Impulsivity, Aggressive behavior OMIM:300615
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Focal-onset seizure, Self-injurious behavior, Stereotypical hand wringing, Convulsive status epil... OMIM:618760
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Self-injurious behav... ORPHA:382
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Clonic seizure, Self-injurious behavior, Seizure, Abnormal repetitive mannerisms OMIM:615282
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Seizure, Self-injurious behavior, Stereotypical hand wringing ORPHA:397933
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Aggressive behavior, Focal tonic seizure, Seizure, Self-injurious behavior, Myoclonus OMIM:300699
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Abnormal repetitive mannerisms, Pica, Aggressive behavior OMIM:617270
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Aggressive... OMIM:619827
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Clonic seizure, Self-injuriou... OMIM:618917
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Hair-pulling, Myoclonic spasms, ... ORPHA:447997
N-Acetylaspartate Deficiency
Seizure, Abnormal repetitive mannerisms, Self-mutilation OMIM:614063
Intellectual Developmental Disorder, Autosomal Recessive 76
Seizure, Self-injurious behavior OMIM:619931
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non-motor (absenc... OMIM:271980
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Seizure, Self-injurious behavior, Abnormal repetitive mannerisms OMIM:617820
Intellectual Developmental Disorder, Autosomal Recessive 77
Self-biting OMIM:619988
O'Donnell-Luria-Rodan Syndrome
Seizure, Self-injurious behavior, Skin-picking, Aggressive behavior OMIM:618512
Developmental And Epileptic Encephalopathy 36
Infantile spasms, Tonic seizure, Myoclonic seizure, Seizure, Atonic seizure, Self-mutilation OMIM:300884
Bilateral Generalized Polymicrogyria
Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Oral-pharyngeal dysp... ORPHA:208447
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Self-injurious behavior OMIM:613641
Intellectual Developmental Disorder, Autosomal Recessive 46
Seizure, Self-injurious behavior, Agitation, Aggressive behavior OMIM:616116
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Epileptic spasm, Myoclonic seizure, Seizure, Self-injurious behavior, Focal impaired awareness se... OMIM:614254
Coffin-Siris Syndrome 8
Seizure, Hyperactivity, Self-injurious behavior, Aggressive behavior OMIM:618362
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms, Myoclonic seizure OMIM:619690
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Seizure, Febrile seizure (within the age range of 3 months to... OMIM:615516
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Impulsivity, Aggressive... OMIM:604317
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi... OMIM:613670
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Bilateral tonic-clonic seizure, Aggressive behavior, Hair-pulling, Polyphagia, Gener... OMIM:620330
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Seizure, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms, Paroxys... OMIM:618718
Intellectual Developmental Disorder, Autosomal Dominant 39
Aggressive behavior, Generalized non-motor (absence) seizure, Focal impaired awareness seizure, P... OMIM:616521
Choreoacanthocytosis
Self-mutilation of tongue and lips due to involuntary movements, Hyperactivity, Bilateral tonic-c... ORPHA:2388
Clcn4-Related X-Linked Intellectual Disability Syndrome
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Aggressive behavior, Generalized... ORPHA:485350
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity, Aggressive behavior, Self-injurious behavior, Seizure, Compulsive behaviors OMIM:619467
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... OMIM:615637
Parenti-Mignot Neurodevelopmental Syndrome
Aggressive behavior, Seizure, Self-injurious behavior, Attention deficit hyperactivity disorder, ... OMIM:619873
Kleefstra Syndrome 2
Seizure, Self-injurious behavior OMIM:617768
Intellectual Developmental Disorder, Autosomal Recessive 43
Self-injurious behavior OMIM:615817
Intellectual Developmental Disorder, Autosomal Recessive 48
Self-mutilation, Inappropriate laughter, Aggressive behavior OMIM:616269
Neurodevelopmental Disorder With Involuntary Movements
Bilateral tonic-clonic seizure, Infantile spasms, Self-injurious behavior, Focal impaired awarene... OMIM:617493
Phenylketonuria
Hyperactivity, Aggressive behavior, Seizure, Compulsive behaviors, Attention deficit hyperactivit... OMIM:261600
Monosomy 22Q13.3
Seizure, Hyperactivity, Hair-pulling, Bruxism ORPHA:48652
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Generalized-onset seizure, Self-biting, Seizure, Status epilepticus OMIM:618314
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Seizure, Self-injurious behavior, Generalized-onset seizure, Recurrent hand flapping OMIM:617268
Neurodevelopmental Disorder With Dystonia And Seizures
Seizure, Self-injurious behavior OMIM:619922
2Q23.1 Microdeletion Syndrome
Hyperactivity, Polyphagia, Seizure, Self-injurious behavior, Abnormal repetitive mannerisms, Paro... ORPHA:228402
Pontocerebellar Hypoplasia, Type 11
Seizure, Self-injurious behavior, Attention deficit hyperactivity disorder, Dysphagia, Abnormal r... OMIM:617695
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Aggressive behavior, Seizure, Self-injurious behavior, Skin-picking, Abnormal repe... OMIM:600430
Developmental And Speech Delay Due To Sox5 Deficiency
Aggressive behavior, Seizure, Self-injurious behavior, Attention deficit hyperactivity disorder, ... ORPHA:313892
Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects
Restlessness, Self-mutilation, Dysphagia, Aggressive behavior OMIM:615075
Fragile X Syndrome
Seizure, Hyperactivity, Recurrent hand flapping, Self-biting OMIM:300624
17Q12 Microduplication Syndrome
Seizure, Self-injurious behavior ORPHA:261272
Houge-Janssens Syndrome 3
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz... OMIM:618354
Intellectual Developmental Disorder, Autosomal Dominant 59
Seizure, Self-mutilation OMIM:618522
Spinocerebellar Ataxia, Autosomal Recessive 31
Seizure, Self-mutilation, Dysphagia, Bruxism OMIM:619422
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... OMIM:617044
Chromosome 19P13.13 Deletion Syndrome
Seizure, Self-injurious behavior OMIM:613638
Fragile X Syndrome
Seizure, Self-injurious behavior, Attention deficit hyperactivity disorder ORPHA:908
Baker-Gordon Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:618218
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Self-injurious behavior, Agitation OMIM:618339
Macrocephaly-Developmental Delay Syndrome
Seizure, Self-injurious behavior, Abnormal repetitive mannerisms ORPHA:397612
Classic Phenylketonuria
Seizure, Self-injurious behavior, Attention deficit hyperactivity disorder ORPHA:79254
Lesch-Nyhan Phenotype With Normal Hgprt
Self-mutilation OMIM:308950
3-Methylglutaconic Aciduria, Type I
Febrile seizure (within the age range of 3 months to 6 years), Self-mutilation OMIM:250950
Smith-Magenis Syndrome
Hyperactivity, Self hugging, Head-banging, Seizure, Onychotillomania, Abnormal repetitive manneri... OMIM:182290
Neurodevelopmental Disorder With Absent Language And Variable Seizures
Seizure, Self-injurious behavior OMIM:618707
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Bilateral tonic-clonic seizure with focal onset, Aggressive behavior, Focal-onset ... ORPHA:163681
Developmental And Epileptic Encephalopathy 64
Seizure, Self-injurious behavior, Status epilepticus, Bruxism, Abnormal repetitive mannerisms OMIM:618004
Joubert Syndrome 20
Self-mutilation, Aggressive behavior OMIM:614970
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:620023
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Aggressive behavior, Seizure, Self-injurious behavior, Abnormal temper tantrums, A... ORPHA:449291
Angelman Syndrome
Hyperactivity, Infantile spasms, Aggressive behavior, Tongue thrusting, Polyphagia, Dysphagia, Se... ORPHA:72
Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome
Seizure, Self-injurious behavior, Abnormal temper tantrums, Aggressive behavior ORPHA:404473
4Q21 Microdeletion Syndrome
Seizure, Self-injurious behavior, Abnormal repetitive mannerisms ORPHA:238750
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Seizure, Abnormal repetitive mannerisms, Bilateral tonic-clonic seizure, Self-mutilation ORPHA:457240
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Aggressive behavior, Self-biting, Seizure, Abnormal repetitive mannerisms ORPHA:3306
Alazami Syndrome
Abnormal eating behavior, Seizure, Abnormal repetitive mannerisms, Self-mutilation, Stereotypical... ORPHA:319671
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Aggressive behavior, Seizure, Self-injurious behavior, Compulsive behaviors, Attention deficit hy... OMIM:300986
Intellectual Developmental Disorder, X-Linked 98
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Aggressive behavi... OMIM:300912
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Seizure, Self-injurious behavior, Aggressive behavior OMIM:300860
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1
Seizure, Status epilepticus, Restlessness, Self-biting OMIM:614388
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Self-injurious behavior, Hyperactivity, Aggressive behavior, Tonic seizure OMIM:620075
Chromosome 5P13 Duplication Syndrome
Seizure, Self-injurious behavior, Abnormal repetitive mannerisms, Compulsive behaviors OMIM:613174
Adenylosuccinase Deficiency
Hyperactivity, Aggressive behavior, Seizure, Myoclonus, Inappropriate laughter, Self-mutilation OMIM:103050
Gomez-Lopez-Hernandez Syndrome
Seizure, Hyperactivity, Self-injurious behavior OMIM:601853
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Aggressive behavior, Seizure, Self-injurious behavior, Compulsive behaviors, Dysphagia, Attention... OMIM:617061
Keratoderma Hereditarium Mutilans
Self-injurious behavior ORPHA:494
15Q11.2 Microdeletion Syndrome
Seizure, Self-injurious behavior, Attention deficit hyperactivity disorder ORPHA:261183
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Hyperactivity, Generalized non-motor (absence) seizure, Tics, Inappropriate laughter, Obsessive-c... ORPHA:363686
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) seizure, Seizur... ORPHA:457351
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Seizure, Self-injurious behavior ORPHA:435938
Schaaf-Yang Syndrome
Seizure, Skin-picking, Polyphagia, Impulsivity OMIM:615547
Rere-Related Neurodevelopmental Syndrome
Seizure, Self-injurious behavior, Attention deficit hyperactivity disorder, Dysphagia ORPHA:494344
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Impulsivity, Infantile spasms, Self-injurious behavior, Focal impaired awareness seizure, Attenti... OMIM:618929
Tonne-Kalscheuer Syndrome
Self-injurious behavior, Dysphagia, Aggressive behavior OMIM:300978
Microhydranencephaly
Generalized myoclonic seizure, Self-mutilation OMIM:605013
19P13.3 Microduplication Syndrome
Hyperactivity, Self-injurious behavior, Febrile seizure (within the age range of 3 months to 6 ye... ORPHA:447980
X-Linked Intellectual Disability Due To Gria3 Mutations
Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Status epilepticus, Myoclonus, Self... ORPHA:364028
X-Linked Creatine Transporter Deficiency
Seizure, Hyperactivity, Self-mutilation ORPHA:52503
Congenital Insensitivity To Pain With Severe Intellectual Disability
Bilateral tonic-clonic seizure, Self-mutilation ORPHA:453510
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Seizure, Self-injurious behavior ORPHA:371364
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms, Impulsivity, Aggressive behavior OMIM:618914
Early Infantile Epileptic Encephalopathy
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Generalized clonic seizure, Foca... ORPHA:1934
Intellectual Developmental Disorder, Autosomal Dominant 1
Aggressive behavior, Seizure, Self-injurious behavior, Inappropriate laughter, Bruxism, Febrile s... OMIM:156200
Pettigrew Syndrome
Seizure, Self-injurious behavior, Stereotypical hand wringing, Aggressive behavior OMIM:304340
Temtamy Syndrome
Seizure, Self-mutilation OMIM:218340
Smith-Magenis Syndrome
Seizure, Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity... ORPHA:819
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Seizure, Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation OMIM:300486
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Seizure, Self-mutilation ORPHA:3041
19P13.12 Microdeletion Syndrome
Seizure, Hyperactivity, Self-injurious behavior ORPHA:254346
Intellectual Developmental Disorder, Autosomal Dominant 29
Hyperactivity, Generalized-onset seizure, Aggressive behavior, Seizure, Self-injurious behavior, ... OMIM:616078
White-Sutton Syndrome
Hyperactivity, Aggressive behavior, Hypoglycemic seizures, Self-injurious behavior, Focal impaire... OMIM:616364
Lesch-Nyhan Syndrome
Seizure, Self-injurious behavior, Dysphagia OMIM:300322
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Seizure, Self-mutilation ORPHA:79233
White-Sutton Syndrome
Hyperactivity, Aggressive behavior, Seizure, Self-injurious behavior, Focal impaired awareness se... ORPHA:468678
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Impulsivity, Aggressive behavior, Seizure, Abnormal temper tantrums, Attention deficit hyperactiv... ORPHA:500055
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Self-injurious behavior, Recurrent hand flapping OMIM:617101
21Q22.11Q22.12 Microdeletion Syndrome
Hyperactivity, Tongue thrusting, Seizure, Self-injurious behavior, Stereotypical body rocking, Br... ORPHA:261323
Kleefstra Syndrome Due To A Point Mutation
Seizure, Self-injurious behavior ORPHA:261652
16P12.1P12.3 Triplication Syndrome
Nail-biting, Hyperactivity, Attention deficit hyperactivity disorder, Skin-picking ORPHA:485405
Nabais Sa-De Vries Syndrome, Type 1
Self-injurious behavior OMIM:618828
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Aggressive behavior, Seizure, Self-injurious behavior, Attention deficit hyperactivity disorder, ... ORPHA:544488
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Seizure, Status epilepticus, Self-mutilation, Dysphagia OMIM:618922
Distal Xq28 Microduplication Syndrome
Impulsivity, Aggressive behavior, Self-biting, Stereotypical body rocking, Attention deficit hype... ORPHA:293939
Cri-Du-Chat Syndrome
Hyperactivity, Aggressive behavior, Abnormal repetitive mannerisms, Self-mutilation, Oppositional... OMIM:123450
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Self-injurious behavior, Aggressive behavior OMIM:619833
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Aggressive behavior, Seizure, Compulsive behaviors, Attention deficit hyperactivity disorder, Abn... ORPHA:476126
Kleefstra Syndrome
Aggressive behavior, Seizure, Self-injurious behavior, Abnormal repetitive mannerisms, Self-mutil... ORPHA:261494
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Head-banging, Seizure, Self-injurious behavior, Attention deficit hyperactivity disorder, Frequen... OMIM:619575
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Bulimia, Self-injurious behavior, Seizure, Abnormal temper tantrums, Skin-picking, Obsessive-comp... ORPHA:98793
Harlequin Ichthyosis
Self-injurious behavior ORPHA:457
16P13.11 Microdeletion Syndrome
Self-injurious behavior, Generalized-onset seizure, Compulsive behaviors ORPHA:261236
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Bulimia, Self-injurious behavior, Seizure, Abnormal temper tantrums, Skin-picking, Obsessive-comp... ORPHA:177904
Transketolase Deficiency
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... ORPHA:488618
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Bulimia, Self-injurious behavior, Seizure, Abnormal temper tantrums, Skin-picking, Obsessive-comp... ORPHA:177901
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non-motor (absence) seizure, Sei... ORPHA:466943
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Bulimia, Self-injurious behavior, Seizure, Abnormal temper tantrums, Skin-picking, Polyphagia ORPHA:98754
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Bilateral tonic-clonic seizure, Simple febrile seizure, Aggressive behavior, Typical absence seiz... ORPHA:466950
Tuberous Sclerosis Complex
Epileptic spasm, Hyperactivity, Infantile spasms, Aggressive behavior, Impulsivity, Focal-onset s... ORPHA:805
Congenital Disorder Of Glycosylation, Type Iia
Aggressive behavior, Seizure, Abnormal repetitive mannerisms, Self-mutilation, Stereotypical hand... OMIM:212066
1P21.3 Microdeletion Syndrome
Self-injurious behavior, Abnormal eating behavior, Self-mutilation, Aggressive behavior ORPHA:293948
Bainbridge-Ropers Syndrome
Seizure, Self-injurious behavior, Recurrent hand flapping, Abnormal repetitive mannerisms OMIM:615485
Microphthalmia, Lenz Type
Seizure, Self-injurious behavior ORPHA:568
Coffin-Lowry Syndrome
Seizure, Self-injurious behavior ORPHA:192
13Q12.3 Microdeletion Syndrome
Hyperactivity, Self-mutilation ORPHA:412035
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Self-injurious b... OMIM:619512
Pitt-Hopkins Syndrome
Seizure, Self-injurious behavior, Abnormal repetitive mannerisms OMIM:610954
Aicardi-Goutieres Syndrome 1
Seizure, Self-mutilation OMIM:225750
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Restlessness, Aggressive behavior, Seizure, Polyphagia, Self-mutilation ORPHA:251028
7Q11.23 Microduplication Syndrome
Collectionism, Hyperactivity, Aggressive behavior, Polyphagia, Seizure, Self-injurious behavior, ... ORPHA:96121
Sim1-Related Prader-Willi-Like Syndrome
Seizure, Skin-picking, Polyphagia, Abnormal temper tantrums ORPHA:398079
Magel2-Related Prader-Willi-Like Syndrome
Impulsivity, Seizure, Abnormal temper tantrums, Compulsive behaviors, Skin-picking, Polyphagia ORPHA:398069
Prader-Willi Syndrome
Seizure, Self-injurious behavior, Polyphagia, Attention deficit hyperactivity disorder OMIM:176270
Alexander Disease
Seizure, Self-injurious behavior, Dysphagia ORPHA:58
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Seizure, Self-injurious behavior ORPHA:847
Prader-Willi Syndrome Due To Translocation
Head-banging, Seizure, Abnormal temper tantrums, Compulsive behaviors, Attention deficit hyperact... ORPHA:177907
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Seizure, Abnormal repetitive mannerisms, Self-mutilation, Attention deficit hyperactivity disorder OMIM:619005
Joubert Syndrome 1
Hyperactivity, Hemifacial spasm, Self-mutilation, Aggressive behavior OMIM:213300
Aicardi-Goutieres Syndrome 9
Seizure, Self-mutilation OMIM:619487
Pitt-Hopkins Syndrome
Seizure, Self-injurious behavior, Aggressive behavior ORPHA:2896
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
Seizure, Self-injurious behavior, Abnormal repetitive mannerisms ORPHA:468631
Cornelia De Lange Syndrome 1
Seizure, Self-injurious behavior OMIM:122470
Cerebrofacioarticular Syndrome
Self-injurious behavior ORPHA:314679
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Repetitive compulsive behavior, Abnormal repetitive mannerisms, Self-mutilation, Self-biting ORPHA:522077
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Aggressive behavior, Seizure, Self-injurious behavior, Compulsive behaviors, Polydipsia, Polyphagia ORPHA:293987
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Inappropriate laughter, Self-mutilation, Aggressive behavior ORPHA:457212
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Seizure, Self-in... ORPHA:353281
Distal Deletion 6P
Self-injurious behavior ORPHA:96125
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Impulsivity, Focal-onset seizure, Seizure, Agitation, Attention deficit hyperactivity disorder, B... OMIM:619950
Oculocerebrorenal Syndrome Of Lowe
Seizure, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivity disorder,... ORPHA:534
Smith-Lemli-Opitz Syndrome
Seizure, Self-injurious behavior, Attention deficit hyperactivity disorder ORPHA:818
Deeah Syndrome
Seizure, Self-mutilation, Dysphagia OMIM:619004
Distal Deletion 12Q
Hyperactivity, Obsessive-compulsive trait, Self-mutilation, Generalized tonic seizure ORPHA:96149
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Self-injurious ... OMIM:612474
1P36 Deletion Syndrome
Polyphagia, Seizure, Self-injurious behavior, Dysphagia, Abnormal repetitive mannerisms ORPHA:1606
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Seizure, Self-in... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Seizure, Self-in... ORPHA:353277
Duplication Of The Pituitary Gland
Self-mutilation ORPHA:314621
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Self-mutilation, Attention deficit hyperactivity disorder OMIM:213980
Ramos-Arroyo Syndrome
Self-mutilation ORPHA:1051
Chilton-Okur-Chung Neurodevelopmental Syndrome
Self-injurious behavior, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:619841
Smith-Lemli-Opitz Syndrome
Seizure, Hyperactivity, Self-mutilation, Aggressive behavior OMIM:270400
Chromosome 1P36 Deletion Syndrome, Distal
Epileptic spasm, Infantile spasms, Aggressive behavior, Seizure, Dysphagia, Polyphagia, Self-muti... OMIM:607872
Rubinstein-Taybi Syndrome 1
Seizure, Hyperactivity, Self-mutilation, Impulsivity OMIM:180849
Primrose Syndrome
Restlessness, Aggressive behavior, Seizure, Self-injurious behavior, Tics, Attention deficit hype... OMIM:259050
Norrie Disease
Seizure, Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity... ORPHA:649
Hereditary Sensory And Autonomic Neuropathy Type 4
Nail-biting, Hyperactivity, Impulsivity, Dysphagia, Self-mutilation ORPHA:642
Alzahrani-Kuwahara Syndrome
Self-mutilation OMIM:619268
Charge Syndrome
Self-mutilation, Dysphagia OMIM:214800
Microphthalmia, Syndromic 1
Seizure, Self-mutilation, Aggressive behavior 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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