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 3.30×10-07
abnormal epididymis morphology Zfhx2em1(IMPC)Rbrc HOM Early adult 0.00
hyperactivity Zfhx2em1(IMPC)Rbrc HOM   Early adult 9.22×10-07
decreased thigmotaxis Zfhx2em1(IMPC)Rbrc HOM   Early adult 9.23×10-05
abnormal vertebral arch morphology Zfhx2em1(IMPC)Rbrc HOM Early adult 2.39×10-06

Download data as:  TSV  XLS

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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.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

6 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
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder, Depression OMIM:613003
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Schizophrenia 15
Hyperactivity OMIM:613950
Gilles De La Tourette Syndrome
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... OMIM:137580
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
Hyperactivity, Scoliosis OMIM:616311
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Hartnup Disorder
Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Kyphoscoliosis, Aggressive behavior, Phonic tics, Compulsive behaviors OMIM:301107
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Kyphoscoliosis, Abnormal fear-induced behavior, Irr... ORPHA:3077
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability OMIM:605899
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Hyperactivity ORPHA:85288
8p23.1 deletion syndrome
Cryptorchidism, Hyperactivity DECIPHER:39
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Hyperactivity, Scoliosis, Bruxism OMIM:300434
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior ORPHA:208441
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Coffin-Siris Syndrome 8
Hyperactivity, Aggressive behavior, Cryptorchidism, Self-injurious behavior, Scoliosis OMIM:618362
Morm Syndrome
Hyperactivity, Micropenis, Aggressive behavior ORPHA:75858
Hyperprolinemia, Type I
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:239500
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity, Lumbar hyperlordosis, Aggressive behavior, Depression, Self-injurious behavior, Th... OMIM:619467
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Abnormal repetitive mannerisms, Kyphoscoliosis, Aggressive behavior OMIM:615541
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
Phenylketonuria
Hyperactivity, Aggressive behavior, Depression, Irritability, Compulsive behaviors, Attention def... OMIM:261600
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Attention deficit hyperactivity disorder OMIM:617028
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Ck Syndrome
Hyperactivity, Hyperlordosis, Aggressive behavior, Kyphosis, Irritability, Scoliosis OMIM:300831
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Precocious puberty, Hyperactivity, Scoliosis, Aggressive behavior ORPHA:457260
Fragile X Syndrome
Macroorchidism, postpubertal, Hyperactivity, Self-biting, Scoliosis, Recurrent hand flapping, Con... OMIM:300624
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... OMIM:619827
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Scolio... OMIM:620141
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors ORPHA:101039
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms, Paroxysmal burst... OMIM:618718
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Self-injurious behavior, Hyperactivity, Scoliosis, Aggressive behavior OMIM:620023
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Kyphoscoliosis, Aggressive behavior, Irritability, Scoliosis, Abnormal repetitive ... ORPHA:391307
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior OMIM:615516
Diethylstilbestrol Syndrome
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... ORPHA:1916
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Hyperactivity, Aggressive behavior ORPHA:382
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Impulsivity, Aggressive behavior, Kyphosis, Dysphagia ORPHA:500180
Intellectual Developmental Disorder, Autosomal Recessive 13
Hyperactivity, Recurrent hand flapping, Short neck, Bruxism OMIM:613192
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism, Hyperactivity, Impulsivity OMIM:300143
2Q23.1 Microdeletion Syndrome
Hyperactivity, Hypoplasia of penis, Abnormal repetitive mannerisms, Cryptorchidism, Self-injuriou... ORPHA:228402
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Precocious puberty, Hyperactivity, Scoliosis, Aggressive behavior OMIM:300958
Lamb-Shaffer Syndrome
Hyperactivity, Fused cervical vertebrae, Thoracic kyphosis, Abnormal temper tantrums, Scoliosis, ... ORPHA:530983
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Aggressive behavior, Depression, Irritability, Self-injurious behavior, Abnormal t... ORPHA:449291
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Aggressive behavior OMIM:612716
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder, Scoliosis, Recurrent hand flapping, Abno... OMIM:617600
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Hyperactivity, Aggressive behavior ORPHA:85327
47,Xyy Syndrome
Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Oligozoospermia, Azoospermia, Attention ... ORPHA:8
Graves Disease, Susceptibility To, 1
Irritability, Hyperactivity, Polyphagia OMIM:275000
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Dysphoria, Depression, Attention deficit hyperactivity disord... OMIM:620242
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Small scrotum, Cryptorchidism, Low frustration tolerance, Microphallus, Micropenis... OMIM:300486
Stankiewicz-Isidor Syndrome
Sacral dimple, Hyperactivity, Hypospadias, Cryptorchidism, Shawl scrotum, Micropenis OMIM:617516
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Ovoid thoracolumbar vertebrae, Aggressive behavior OMIM:252920
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Kyphoscoliosis, Ovoid thoracolumbar vertebrae, Dysphagia, Beaking of vertebral bodies OMIM:252930
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior ORPHA:309246
Mucopolysaccharidosis, Type Iiia
Hyperactivity, Ovoid thoracolumbar vertebrae, Scoliosis OMIM:252900
Porphyria Due To Ala Dehydratase Deficiency
Abnormal fear-induced behavior, Agitation, Restlessness, Depression ORPHA:100924
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... OMIM:610042
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Self-biting OMIM:618314
Histidinemia
Hyperactivity ORPHA:2157
Floating-Harbor Syndrome
Restlessness, Hypospadias, Impulsivity, Aggressive behavior, Short neck, Kyphoscoliosis, Precocio... ORPHA:2044
Microcephaly 29, Primary, Autosomal Recessive
Emotional lability, Hyperactivity OMIM:620047
Familial Gestational Hyperthyroidism
Hyperactivity, Agitation ORPHA:99819
Floating-Harbor Syndrome
Hypospadias, Kyphoscoliosis, Short neck, Aggressive behavior, Cryptorchidism, Glandular hypospadi... OMIM:136140
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormality of the cervical spine, Hyperactivity, Hypospadias, Impulsivity, Aggressive behavior, ... ORPHA:353281
Osteogenesis Imperfecta
Cervical kyphosis, Kyphosis, Vertebral compression fracture, Abnormal form of the vertebral bodie... ORPHA:666
Renal Cysts And Diabetes Syndrome
Hypospadias, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Atretic vas deferens OMIM:137920
Von Hippel-Lindau Syndrome
Papillary cystadenoma of the epididymis, Epididymal cyst OMIM:193300
Myhre Syndrome
Vertebral fusion, Short neck, Cryptorchidism, Enlarged vertebral pedicles, Platyspondyly OMIM:139210
Von Hippel-Lindau Disease
Back pain, Papillary cystadenoma of the epididymis, Epididymal cyst ORPHA:892
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormality of the cervical spine, Hyperactivity, Hypospadias, Impulsivity, Aggressive behavior, ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormality of the cervical spine, Hyperactivity, Hypospadias, Impulsivity, Aggressive behavior, ... ORPHA:353277
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.

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
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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