Gene Summary

Name:
zinc finger homeobox 2
Synonyms:
zfh-5

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased anxiety-related response Zfhx2em1(IMPC)Rbrc HOM Early adult 2.41×10-07
abnormal vertebral arch morphology Zfhx2em1(IMPC)Rbrc HOM Early adult 2.39×10-06
hyperactivity Zfhx2em1(IMPC)Rbrc HOM   Early adult 8.96×10-07
abnormal epididymis morphology Zfhx2em1(IMPC)Rbrc HOM Early adult 0.00

Download data as:  TSV  XLS

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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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

6 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Zfhx2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Zfhx2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Marsili Syndrome
OMIM:147430

The table below shows human diseases predicted to be associated to Zfhx2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Dominant 52
Cryptorchidism, Anxiety, Hyperactivity OMIM:617796
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Severe Primary Trimethylaminuria
Anxiety, Negative affectivity, Aggressive behavior, Emotional lability, Low self esteem, Depression ORPHA:468726
Autism, Susceptibility To, X-Linked 4
Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:300830
Familial Alzheimer-Like Prion Disease
Emotional lability, Anxiety, Depression, Attention deficit hyperactivity disorder ORPHA:280397
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Intellectual Developmental Disorder, Autosomal Dominant 33
Scoliosis, Hyperactivity OMIM:616311
Obsessive-Compulsive Disorder
Anxiety, Depression, Skin-picking OMIM:164230
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Immunodeficiency 8
Hyperactivity OMIM:615401
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior OMIM:619031
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Irritability OMIM:616657
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Pandas
Abnormal fear/anxiety-related behavior, Agoraphobia, Emotional lability, Irritability, Separation... ORPHA:66624
Morm Syndrome
Micropenis, Hyperactivity, Aggressive behavior ORPHA:75858
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal aggressive, impulsive or violent behavior, Hyperactivity, Aggressive behavior, Irritabil... ORPHA:3077
Developmental And Epileptic Encephalopathy 43
Hyperactivity OMIM:617113
Coffin-Siris Syndrome 8
Self-injurious behavior, Scoliosis, Hyperactivity, Aggressive behavior OMIM:618362
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Impulsivity, Aggressive behavior OMIM:604317
Glycine Encephalopathy
Hyperactivity, Impulsivity, Aggressive behavior, Irritability OMIM:605899
8p23.1 deletion syndrome
Cryptorchidism, Hyperactivity DECIPHER:39
Usmani-Riazuddin Syndrome, Autosomal Dominant
Thoracic kyphosis, Self-injurious behavior, Hyperactivity, Anxiety, Aggressive behavior, Lumbar h... OMIM:619467
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior OMIM:309548
Phenylketonuria
Anxiety, Hyperactivity, Aggressive behavior, Irritability, Self-mutilation, Depression, Attention... OMIM:261600
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior ORPHA:100973
Intellectual Developmental Disorder, Autosomal Dominant 43
Anxiety, Hyperactivity, Impulsivity OMIM:616977
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Kyphosis ORPHA:85288
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
Hyperprolinemia, Type I
Hyperactivity, Aggressive behavior OMIM:239500
Diethylstilbestrol Syndrome
Epididymal cyst, Cryptorchidism, Micropenis, Abnormality of the uterus, Testicular dysgenesis, Ab... ORPHA:1916
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Intellectual Developmental Disorder, Autosomal Recessive 39
Kyphoscoliosis, Hyperactivity, Aggressive behavior OMIM:615541
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Scoliosis, Kyphosis, Hyperactivity OMIM:300434
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Anxiety, Hyperactivity OMIM:300979
Chromosome 3Q29 Deletion Syndrome
Anxiety, Hyperactivity, Aggressive behavior OMIM:609425
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Scoliosis, Precocious puberty, Hyperactivity, Aggressive behavior ORPHA:457260
Ck Syndrome
Kyphosis, Hyperactivity, Hyperlordosis, Aggressive behavior, Scoliosis, Irritability OMIM:300831
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Fragile X Syndrome
Self-biting, Congenital macroorchidism, Hyperactivity, Scoliosis, Macroorchidism, postpubertal OMIM:300624
Ck Syndrome
Hyperactivity, Aggressive behavior, Lumbar hyperlordosis, Irritability, Kyphoscoliosis ORPHA:251383
Lennox-Gastaut Syndrome
Hyperactivity, Personality disorder, Aggressive behavior ORPHA:2382
Clcn4-Related X-Linked Intellectual Disability Syndrome
Cryptorchidism, Self-injurious behavior, Hyperactivity, Anxiety, Aggressive behavior, Scoliosis, ... ORPHA:485350
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Cryptorchidism, Hyperactivity, Aggressive behavior OMIM:615824
Intellectual Developmental Disorder, Autosomal Recessive 71
Cryptorchidism, Hyperactivity, Micropenis, Attention deficit hyperactivity disorder OMIM:618504
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Aggressive behavior OMIM:300983
Landau-Kleffner Syndrome
Anxiety, Hyperactivity, Aggressive behavior, Emotional lability, Depression, Impulsivity, Attenti... ORPHA:98818
Intellectual Developmental Disorder, Autosomal Recessive 61
Scoliosis, Hyperactivity, Aggressive behavior OMIM:617773
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Aggressive behavior OMIM:619470
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Macroorchidism, Aggressive behavior ORPHA:85327
Early-Onset Schizophrenia
Suicidal ideation, Unhappy demeanor, Anxiety, Anhedonia, Impairment in personality functioning, E... ORPHA:96369
Intellectual Developmental Disorder, X-Linked 107
Anxiety, Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:301013
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Impulsivity, Macroorchidism OMIM:300143
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Premature ovarian insufficiency, Hyperactivity, Aggressive behavior, Scoliosis, Irritability, Kyp... ORPHA:391307
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Kyphosis, Mood swings, Cryptorchidism, Micropenis, Hyperactivity, Aggressive behavior, Hypospadia... OMIM:300354
Alazami-Yuan Syndrome
Cryptorchidism, Hyperactivity OMIM:617126
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Hyperactivity, Impulsivity, Aggressive behavior ORPHA:101039
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Hyperactivity, Anxiety, Aggressive behavior OMIM:271980
Gand Syndrome
Hyperactivity, Inappropriate laughter OMIM:615074
47,Xyy Syndrome
Varicocele, Cryptorchidism, Micropenis, Azoospermia, Hyperactivity, Oligospermia, Macroorchidism,... ORPHA:8
Chromosome 15Q25 Deletion Syndrome
Cryptorchidism, Hyperactivity, Short neck, Attention deficit hyperactivity disorder OMIM:614294
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Scoliosis, Precocious puberty, Hyperactivity, Aggressive behavior OMIM:300958
Autosomal Recessive Non-Syndromic Intellectual Disability
Impulsivity, Hyperactivity, Depression ORPHA:88616
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Hyperactivity, Paroxysmal bursts of laughter OMIM:618718
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Self-mutilation, Aggressive behavior OMIM:615516
Juvenile Huntington Disease
Hyperactivity, Depression, Irritability ORPHA:248111
Clark-Baraitser Syndrome
Hyperactivity, Aggressive behavior OMIM:617752
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Impulsivity, Kyphosis, Aggressive behavior ORPHA:500180
Inverted Duplicated Chromosome 15 Syndrome
Self-biting, Cryptorchidism, Hyperactivity, Aggressive behavior, Precocious puberty, Gonadal dysg... ORPHA:3306
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Happy demeanor, Inappropriate laughter ORPHA:411515
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Aggressive behavior OMIM:612716
Intellectual Developmental Disorder, Autosomal Recessive 13
Hyperactivity, Short neck OMIM:613192
Intellectual Developmental Disorder, X-Linked 30
Anxiety, Hyperactivity, Aggressive behavior OMIM:300558
2Q23.1 Microdeletion Syndrome
Paroxysmal bursts of laughter, Cryptorchidism, Self-injurious behavior, Hyperactivity, Hypoplasia... ORPHA:228402
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Hyperactivity, Anxiety, Aggressive behavior, Scoliosis, Irritability, De... ORPHA:449291
Mend Syndrome
Cryptorchidism, Hyperactivity, Kyphosis OMIM:300960
Acrodysostosis 2 With Or Without Hormone Resistance
Cryptorchidism, Hyperactivity, Spinal canal stenosis, Hypospadias OMIM:614613
Graves Disease, Susceptibility To, 1
Hyperactivity, Irritability OMIM:275000
Cri-Du-Chat Syndrome
Short neck, Cryptorchidism, Anxiety, Hyperactivity, Conspicuously happy disposition, Aggressive b... OMIM:123450
13Q12.3 Microdeletion Syndrome
Cryptorchidism, Kyphoscoliosis, Hyperactivity, Self-mutilation ORPHA:412035
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Small scrotum, Low frustration tolerance, Cryptorchidism, Micropenis, Hyperactivity, Self-mutilat... OMIM:300486
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Aggressive behavior OMIM:615286
Mucopolysaccharidosis, Type Iiib
Ovoid thoracolumbar vertebrae, Hyperactivity, Aggressive behavior OMIM:252920
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Hyperactivity, Aggressive behavior ORPHA:382
Hypomagnesemia, Seizures, And Mental Retardation 2
Self-biting, Hyperactivity OMIM:618314
19P13.3 Microduplication Syndrome
Unilateral cryptorchidism, Self-injurious behavior, Hyperactivity, Irritability, Precocious puber... ORPHA:447980
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity, Aggressive behavior ORPHA:369939
Lamb-Shaffer Syndrome
Scoliosis, Thoracic kyphosis, Hyperactivity, Fused cervical vertebrae ORPHA:530983
16P12.1P12.3 Triplication Syndrome
Nail-biting, Anxiety, Hyperactivity, Bilateral cryptorchidism, Skin-picking, Attention deficit hy... ORPHA:485405
19P13.12 Microdeletion Syndrome
Kyphosis, Short neck, Cryptorchidism, Self-injurious behavior, Hyperactivity, Scoliosis, Precocio... ORPHA:254346
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Anxiety, Scoliosis, Hyperactivity, Aggressive behavior OMIM:618430
X-Linked Adrenoleukodystrophy
Disinhibition, Hyperactivity, Aggressive behavior, Inappropriate sexual behavior, Attention defic... ORPHA:43
X-Linked Intellectual Disability, Cabezas Type
Kyphosis, Short neck, Hyperactivity, Hypoplasia of penis, Aggressive behavior, Scoliosis, Hypogon... ORPHA:85293
Stankiewicz-Isidor Syndrome
Sacral dimple, Cryptorchidism, Micropenis, Shawl scrotum, Hyperactivity, Hypospadias OMIM:617516
Mucopolysaccharidosis, Type Iiia
Ovoid thoracolumbar vertebrae, Scoliosis, Hyperactivity OMIM:252900
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Low frustration tolerance, Hyperactivity, Inappropriate laughter, Self-mutilation, Hypospadias ORPHA:363686
Chromosome 10Q26 Deletion Syndrome
Small scrotum, Short neck, Cryptorchidism, Micropenis, Hyperactivity, Aggressive behavior OMIM:609625
Adenylosuccinase Deficiency
Happy demeanor, Hyperactivity, Aggressive behavior, Inappropriate laughter, Self-mutilation OMIM:103050
Cntnap2-Related Developmental And Epileptic Encephalopathy
Low frustration tolerance, Hyperactivity, Aggressive behavior, Precocious puberty, Self-mutilatio... ORPHA:163681
Dyggve-Melchior-Clausen Disease
Abnormality of the vertebral column, Atlantoaxial instability, Short neck, Abnormality of the ver... ORPHA:239
Mucopolysaccharidosis, Type Iiic
Kyphoscoliosis, Ovoid thoracolumbar vertebrae, Hyperactivity OMIM:252930
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Aggressive behavior OMIM:610042
Floating-Harbor Syndrome
Epididymal cyst, Short neck, Varicocele, Cryptorchidism, Anxiety, Aggressive behavior, Precocious... ORPHA:2044
Koolen-De Vries Syndrome
Kyphosis, Sacral dimple, Cryptorchidism, Anxiety, Hyperactivity, Conspicuously happy disposition,... OMIM:610443
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Happy demeanor, Scoliosis, Hyperactivity, Inappropriate laughter ORPHA:98794
Rauch-Steindl Syndrome
Anxiety, Hyperactivity, Sacral dimple, Aggressive behavior OMIM:619695
Angelman Syndrome
Happy demeanor, Precocious puberty in females, Self-injurious behavior, Hyperactivity, Anxiety, A... ORPHA:72
Insensitivity To Pain, Congenital, With Anhidrosis
Emotional lability, Hyperactivity, Self-mutilation OMIM:256800
X-Linked Creatine Transporter Deficiency
Hyperactivity, Self-mutilation ORPHA:52503
Von Hippel-Lindau Disease
Epididymal cyst, Anxiety, Papillary cystadenoma of the epididymis, Back pain ORPHA:892
Floating-Harbor Syndrome
Epididymal cyst, Short neck, Varicocele, Cryptorchidism, Congenital posterior urethral valve, Hyp... OMIM:136140
Legius Syndrome
Hyperactivity, Male urethral meatus stenosis, Ovarian neoplasm, Scoliosis, Attention deficit hype... ORPHA:137605
Histidinemia
Hyperactivity ORPHA:2157
Acrodysostosis With Multiple Hormone Resistance
Hypoplastic vertebral bodies, Cryptorchidism, Hyperactivity, Narrow vertebral interpedicular dist... ORPHA:280651
Von Hippel-Lindau Syndrome
Epididymal cyst, Papillary cystadenoma of the epididymis OMIM:193300
Neurodegeneration With Brain Iron Accumulation 2B
Emotional lability, Hyperactivity, Impulsivity OMIM:610217
Renal Cysts And Diabetes Syndrome
Epididymal cyst, Atretic vas deferens, Bicornuate uterus, Hypoplasia of the uterus, Hypospadias OMIM:137920
Myhre Syndrome
Short neck, Cryptorchidism, Platyspondyly, Vertebral fusion, Enlarged vertebral pedicles OMIM:139210
Mend Syndrome
Kyphosis, Sacral dimple, Cryptorchidism, Hyperactivity, Aggressive behavior ORPHA:401973
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear/anxiety-related behavior, Abnormality of the cervical spine, Cryptorchidism, Self-i... ORPHA:353281
Argininemia
Hyperactivity, Irritability OMIM:207800
Osteogenesis Imperfecta
Cervical kyphosis, Kyphosis, Vertebral compression fracture, Abnormal form of the vertebral bodie... ORPHA:666
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Scoliosis, Aplasia of the vagina, Hyperactivity ORPHA:457284
Choreoacanthocytosis
Socially inappropriate behavior, Self-injurious behavior, Hyperactivity, Anxiety, Aggressive beha... ORPHA:2388
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Small scrotum, Short neck, Paroxysmal bursts of laughter, Cryptorchidism, Micropenis, Hyperactivi... OMIM:309580
Marsili Syndrome
OMIM:147430

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 Zfhx2

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 Zfhx2.

No publications found that use IMPC mice or data for Zfhx2.

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MGI Allele Allele Type Produced
Zfhx2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Zfhx2tm261548(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Zfhx2tm407023(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Zfhx2em1(IMPC)Rbrc Exon Deletion Mice
Zfhx2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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