Gene Summary

Name:
special AT-rich sequence binding protein 1
Synonyms:
2610306G12Rik

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
preweaning lethality, incomplete penetrance Satb1tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
increased exploration in new environment Satb1tm1b(EUCOMM)Hmgu HET Early adult 2.34×10-06
preweaning lethality, complete penetrance Satb1tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
increased circulating aspartate transaminase level Satb1tm1b(EUCOMM)Hmgu HET   Early adult 3.28×10-05
abnormal auditory brainstem response Satb1tm1b(EUCOMM)Hmgu HET   Early adult 1.60×10-05
abnormal bone structure Satb1tm1b(EUCOMM)Hmgu HET   Early adult 9.81×10-05
hyperactivity Satb1tm1b(EUCOMM)Hmgu HET Early adult 2.66×10-05
increased bone mineral content Satb1tm1b(EUCOMM)Hmgu HET Early adult 8.63×10-05
abnormal vitreous body morphology Satb1tm1b(EUCOMM)Hmgu HET Early adult 1.00×10-06

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Lymph node  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Peripheral nervous system  Section images heterozygote 50% (1 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Striatum  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vascular system  Section images heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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

22 Images

X-ray

XRay Images Forepaw

12 Images

X-ray

XRay Images Whole Body Lateral Orientation

22 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

Sleep Wake

Wake state (bmp file)

12 Images

Adult LacZ

LacZ Images Section

34 Images

X-ray

XRay Images Skull Lateral Orientation

12 Images

Eye Morphology

Images Ophthalmoscopy

2 Images

Immunophenotyping

Panel B FCS file(s)

7 Images

Electroretinography 2

Rod and cone PDF

2 Images

Immunophenotyping

Panel A FCS file(s)

7 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

7 Images

Human diseases caused by Satb1 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 Satb1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Developmental Delay With Dysmorphic Facies And Dental Anomalies
EEG abnormality OMIM:619228
Den Hoed-De Boer-Voisin Syndrome
Intrauterine growth retardation, Downslanted palpebral fissures, Tremor, Thick eyebrow OMIM:619229

The table below shows human diseases predicted to be associated to Satb1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity, Short attention span DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity, Short attention span OMIM:608443
Immunodeficiency 24
Defective T cell proliferation, Reduced proportion of mucosal-associated invariant T cells, Parti... OMIM:615897
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Panhypogammaglobulinemia, Aplasia of the thymus, B lymphocytopenia, Increased circu... OMIM:602450
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Jaundice, Hepatomegaly, Abnormal immunoglobulin level, Decreased proportion of CD3-positive T cel... ORPHA:276
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level, Abnormal B cell morphology, Epicanthus OMIM:616911
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Splenomegaly, Hypersplenism OMIM:183350
Reticular Dysgenesis
Congenital agranulocytosis, Lack of T cell function, Hypoplasia of the thymus, Impaired T cell fu... OMIM:267500
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Immunodeficiency 52
Defective T cell proliferation, Lymphadenopathy, Abnormal natural killer cell count, Decreased ci... OMIM:617514
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... OMIM:615513
Caspase 8 Deficiency
Reduced CD95-induced lymphocyte apoptosis, Lymphadenopathy, Complete or near-complete absence of ... OMIM:607271
Immunodeficiency 105
Decreased circulating total IgM, Impaired lymphocyte transformation with phytohemagglutinin, Panc... OMIM:619924
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses OMIM:616515
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Decreased circulating ant... OMIM:619846
Schizophrenia 15
Hyperactivity OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Tremor, Impair... OMIM:613179
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Defective T cell proliferation, Cervical lymphadenopathy, Mediastina... OMIM:618534
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Continuous spike and waves during slow s... OMIM:301008
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Mediastinal lymphadenopathy, Lymphadenopat... OMIM:300853
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, EEG abnormality, Low-set ears ORPHA:436151
Immunodeficiency, Common Variable, 1
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt... OMIM:607594
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve... OMIM:606843
Immunodeficiency 76
Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Growth delay, Splenomegaly, Lymphopenia OMIM:619164
Immunodeficiency, Common Variable, 2
Hepatomegaly, Lymphadenopathy, Partial absence of specific antibody response to unconjugated pneu... OMIM:240500
Agammaglobulinemia, X-Linked
Anemia, Decreased circulating IgE, B lymphocytopenia, Hepatocellular carcinoma, Enteroviral hepat... OMIM:300755
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601382
Fraxe Intellectual Disability
Agitation, Hyperactivity, Prominent ear helix, Recurrent hand flapping, Compulsive behaviors, Imp... ORPHA:100973
Immunodeficiency 18
Defective T cell proliferation, Decreased circulating total IgM, Decreased proportion of CD3-posi... OMIM:615615
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... OMIM:616648
Severe Combined Immunodeficiency, X-Linked
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating I... OMIM:300400
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl... OMIM:618987
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch... OMIM:619126
Landau-Kleffner Syndrome
Memory impairment, Hyperactivity, Depression, Emotional lability, Short attention span, Impulsivi... ORPHA:98818
Reticuloendotheliosis, X-Linked
Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly OMIM:312500
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Hepatomegaly, Iron deficiency anem... OMIM:601859
Lymphoproliferative Syndrome 3
Lymphadenopathy, Decreased circulating antibody level, Partial absence of specific antibody respo... OMIM:618261
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Self-injurious behavior, Agitation, Hypsarrhythmia OMIM:619970
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ... OMIM:619313
Hyperprolinemia, Type I
Hyperactivity, Motor stereotypy, EEG abnormality, Hyperprolinemia, Aggressive behavior OMIM:239500
Immunodeficiency 104
Splenomegaly, Hepatomegaly, Lymphadenopathy, T lymphocytopenia OMIM:608971
Glycine Encephalopathy 1
Irritability, Hyperactivity, Impulsivity, Restlessness, Hyperglycinemia, Aggressive behavior OMIM:605899
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,... OMIM:212050
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Lymphadenopathy, Increased circulating IgG level, Increased circulating IgE level, Increased B ce... OMIM:618982
Immunodeficiency 115 With Autoinflammation
Postnatal growth retardation, Intestinal lymphangiectasia, Anemia, Partial absence of specific an... OMIM:620632
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Attention deficit hyperactivity disorder, Hypsarrhythmia, Impulsivity OMIM:617113
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Increased circulating IgE level, Lack of T cell function, T lymphocytopenia, A... ORPHA:277
Immunodeficiency 112
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... OMIM:620449
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced delayed hypersensitivity, Decreased proportion of CD8-positive T cells, Increased circula... OMIM:617241
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia OMIM:233650
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Facial palsy, Absent brainstem auditory responses, Dysphagia, E... OMIM:617519
Lennox-Gastaut Syndrome
Irritability, Hyperactivity, EEG abnormality, EEG with focal sharp slow waves, Mental deteriorati... ORPHA:2382
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Growth delay,... ORPHA:169079
Ravine Syndrome
Anorexia, Abnormal auditory evoked potentials ORPHA:99852
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of visual evok... ORPHA:320401
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, Splenomegaly, Abnorm... ORPHA:100024
Mohr-Tranebjaerg Syndrome
Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... ORPHA:52368
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Hepatomegaly, Iron deficiency anem... OMIM:603909
Kimura Disease
Abnormal salivary gland morphology, Lymphadenopathy, Increased circulating IgE level, Eosinophili... ORPHA:482
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphadenopathy, Increased circulating antibody lev... ORPHA:169154
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Postnatal growth retardation, Hepatomegaly, Short stature, Decreased circulating IgG level, Leuko... OMIM:620210
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Dysgammaglobulinemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytope... OMIM:308240
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy, Macrotia, Hyperactivity OMIM:300928
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder, Emotional lability OMIM:234500
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Abnormality of the... OMIM:611926
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Pan... OMIM:618986
Immunodeficiency 54
Postnatal growth retardation, Hepatomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, ... OMIM:609981
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Self-injurious behavior, Aggressive behavior OMIM:619031
Phenylketonuria
Irritability, Hyperactivity, Depression, Hyperphenylalaninemia, Compulsive behaviors, Attention d... OMIM:261600
Morm Syndrome
Hyperactivity, Retinal atrophy, Aggressive behavior ORPHA:75858
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Nail-biting, Memory impairment, Hyperactivity, EEG with generalized epile... OMIM:619827
Immunodeficiency 97 With Autoinflammation
Granuloma, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer cell count, Decreased... OMIM:619802
Late-Infantile/Juvenile Krabbe Disease
Irritability, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduct... ORPHA:206443
Immunodeficiency 85 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgE, T lymphocytopenia, Growth delay, Decr... OMIM:619510
Immunodeficiency 114, Folate-Responsive
Postnatal growth retardation, Hepatomegaly, Megaloblastic anemia, Increased circulating IgE level... OMIM:620603
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Decreased circulating IgE, Sclerosing cholangitis, Impaired Ig class switch... OMIM:308230
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Hepatomegaly, Decreased circulating total IgM, Abnormal natural kill... ORPHA:331206
Late Infantile Neuronal Ceroid Lipofuscinosis
Obsessive-compulsive trait, Multifocal epileptiform discharges, EEG with spike-wave complexes, Hy... ORPHA:168491
Rasmussen Subacute Encephalitis
Irritability, Memory impairment, Hyperactivity, EEG with focal spikes, Increased theta frequency ... ORPHA:1929
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly ORPHA:66661
Immunodeficiency 81
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Abnormally lo... OMIM:619374
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the ovary, Decreased proportion of CD4-positive he... ORPHA:543
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Bone marrow hypocellularity, Intrauterine growth retardation OMIM:609054
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Short stature OMIM:615925
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent peripheral lymph nodes in pres... OMIM:600802
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Attention deficit hyperactivity disorder, Compulsive behaviors, Motor tics OMIM:619927
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, Conjunctivitis, Panhypogammaglobulinemia, T lymphocytopenia OMIM:601457
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ... OMIM:301078
Immunodeficiency 25
Autoimmune hemolytic anemia, Increased circulating IgG level, Complete or near-complete absence o... OMIM:610163
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Focal EEG discharges with secondary generalization, Abnormal fear-induced... ORPHA:3077
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines, Recurrent otitis media OMIM:301076
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Low-set ears, Motor stereotypy, Self-injurious behavior, EEG abnormality, Bruxism,... OMIM:618718
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
T-Cell Immunodeficiency With Thymic Aplasia
Reduced delayed hypersensitivity, Aplasia of the thymus, T lymphocytopenia, Hepatosplenomegaly, L... OMIM:242700
Dyskeratosis Congenita, Autosomal Recessive 5
Postnatal growth retardation, Decreased circulating antibody level, Bone marrow hypocellularity, ... OMIM:615190
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud... ORPHA:1215
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Macular coloboma, Geographic atrophy, Sensorineural hearing impairment, Abnormal auditory evoked ... OMIM:619260
Immunodeficiency 57 With Autoinflammation
Perianal abscess, B lymphocytopenia, Decreased circulating antibody level, Partial absence of spe... OMIM:618108
Hyperlysinemia, Type I
Hyperactivity, Optic nerve hypoplasia, Short attention span, Hyperlysinemia, Cognitive impairment... OMIM:238700
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal temper tantrums, Hyperactivity, EEG with focal spikes, Interictal epileptiform activity,... ORPHA:163681
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Recurrent hand flapping, Diminished ability to concentrate, Self-mutilation, Aggre... OMIM:615516
Lissencephaly Syndrome, Norman-Roberts Type
Intrauterine growth retardation, Hypoplastic spleen ORPHA:89844
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Polyphagia, Short attention span, Inappropriate laughter, EEG abnormality ORPHA:411515
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Optic disc pallor OMIM:617523
Immunodeficiency 68
Abnormal natural killer cell count, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Abscess OMIM:612260
Ataxia-Telangiectasia
Delayed puberty, Tremor, Hypoplasia of the thymus, T lymphocytopenia, Conjunctival telangiectasia... OMIM:208900
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Abnormal cranial nerve morphology, Fa... OMIM:601596
Immunodeficiency 13
B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho... OMIM:615518
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomeg... OMIM:612840
Stormorken Syndrome
Anemia, Howell-Jolly bodies, Asplenia, Short stature, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, Lymphadenopat... OMIM:606367
Optic Atrophy 11
Optic atrophy, Decreased sensory nerve conduction velocity, Hyperactivity, Optic nerve hypoplasia... OMIM:617302
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Sensorineural hearing impairment, Short attention span, Osteopenia OMIM:608747
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Abnormality of superior crus of antihelix, Prominent crus of helix, Macrotia, Atte... OMIM:301013
Cerebrotendinous Xanthomatosis
Optic atrophy, Osteopenia, Agitation, Decreased nerve conduction velocity, Progressive psychomoto... ORPHA:909
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Abcd Syndrome
Total intestinal aganglionosis, Hearing impairment, Aganglionic megacolon, Abnormal auditory evok... OMIM:600501
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Lack of T cell fun... ORPHA:35078
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Abnormal lymph node morphology, Lymphadenopathy, Decreased proportio... ORPHA:911
Citrullinemia Type Ii
Hypertriglyceridemia, Irritability, Decreased HDL cholesterol concentration, Elevated plasma citr... ORPHA:247585
Mirage Syndrome
Anemia, Decreased testicular size, Short stature, Hypoplastic spleen, Leukopenia, Thrombocytopeni... OMIM:617053
Infantile Neuroaxonal Dystrophy
Optic atrophy, Hyperactivity, Emotional lability, Abnormal autonomic nervous system physiology, I... ORPHA:35069
Immunodeficiency By Defective Expression Of Mhc Class Ii
Autoimmune hemolytic anemia, Sclerosing cholangitis, Pancytopenia, Panhypogammaglobulinemia, Neut... ORPHA:572
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Prelingual sensorineural hearing impairment, Hyperactivity, Sensorineural hearing impairment, Bil... ORPHA:73272
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Irritability, Delayed brainstem auditory evoked response conduction time OMIM:616881
Immunodeficiency 55
Postnatal growth retardation, Lymphadenopathy, Short stature, Lymphopenia, Intrauterine growth re... OMIM:617827
Infantile Krabbe Disease
Optic atrophy, Irritability, Delayed brainstem auditory evoked response conduction time, Decrease... ORPHA:206436
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hypernatremia, Neonatal hy... ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hypernatremia, Neonatal hy... ORPHA:529799
Pgm3-Cdg
Decreased proportion of CD3-positive T cells, Neutropenia in presence of anti-neutropil antibodie... ORPHA:443811
Mucopolysaccharidosis, Type Iiib
Dense calvaria, Hyperactivity, Hearing impairment, Progressive neurologic deterioration, Aggressi... OMIM:252920
Gracile Bone Dysplasia
Short stature, Hypoplastic spleen, Asplenia OMIM:602361
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Abnormal temper tantrums, Irritability, Recurrent otitis media, Hyperactivity, Depression, Recurr... ORPHA:449291
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Progressive language deterioration, Motor stereotypy, Attention deficit hyperactiv... OMIM:610042
Leukodystrophy, Hypomyelinating, 5
Decreased motor nerve conduction velocity, Delayed brainstem auditory evoked response conduction ... OMIM:610532
Microphthalmia, Syndromic 9
Multilobulated spleen, Short stature, Neonatal death, Hypoplastic spleen, Severe short stature, I... OMIM:601186
Adult Krabbe Disease
Progressive neurologic deterioration, Delayed brainstem auditory evoked response conduction time,... ORPHA:206448
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Optic nerve hypoplasia, Sensorineural hearing impairment, Ab... ORPHA:101085
Hereditary Orotic Aciduria
Downslanted palpebral fissures, Anemia, Splenomegaly, Impaired T cell function ORPHA:30
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
X-Linked Adrenoleukodystrophy
Hyperactivity, Progressive hearing impairment, Cognitive impairment, Disinhibition, Dementia, Att... ORPHA:43
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Increased circulating ferritin concentration, Vestibular areflexia, Absent brainstem auditory res... ORPHA:3240
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, Sensorineural hearing impairment, Abnormal auditory evoked potentials, A... ORPHA:99027
Pearson Syndrome
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Hepatomegaly... ORPHA:699
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Tremor, Impaired T cell function, Decreased testicular size, Short stature, Splenom... OMIM:201100
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system OMIM:165550
T-Cell Immunodeficiency With Thymic Aplasia
Lymphadenopathy, Decreased proportion of naive T cells, T lymphocytopenia, Atypical or prolonged ... ORPHA:83471
Ciliary Dyskinesia, Primary, 53
Abdominal situs inversus, Hypoplastic spleen, Polysplenia OMIM:620642
Hereditary Elliptocytosis
Postnatal growth retardation, Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonge... ORPHA:288
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal B cell morpho... OMIM:615607
Arthrogryposis, Distal, Type 2A
Hearing impairment, Abnormal auditory evoked potentials OMIM:193700
Cockayne Syndrome Type 1
Optic atrophy, Absent brainstem auditory responses, Hearing impairment, Increased blood urea nitr... ORPHA:90321
Cockayne Syndrome A
Optic atrophy, Decreased nerve conduction velocity, Dementia, Sensorineural hearing impairment, A... OMIM:216400
Mend Syndrome
Hyperactivity, Abnormal auditory evoked potentials, Low-set ears, Elevated 8(9)-cholestenol, Elev... ORPHA:401973
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Microtia, Low-set ears, Elevated c... OMIM:614643
Wiskott-Aldrich Syndrome
Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, Decreased cir... OMIM:301000
Cockayne Syndrome B
Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal pi... OMIM:133540
Neurodegeneration With Brain Iron Accumulation 2B
Optic atrophy, Hyperactivity, Emotional lability, Short attention span, Impulsivity, Dysphagia, M... OMIM:610217
Mucopolysaccharidosis Type 2
Optic atrophy, Abnormal temper tantrums, Decreased nerve conduction velocity, Hyperactivity, Sens... ORPHA:580
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia... OMIM:258900
Mogs-Cdg
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Abnormality... ORPHA:79330
Microphthalmia/Coloboma 12
Optic disc coloboma, Optic nerve aplasia, Remnants of the hyaloid vascular system OMIM:120200
Trisomy 10P
Low voltage EEG, EEG with focal spikes, Abnormal auditory evoked potentials, Low-set ears, Macrot... ORPHA:171929
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Aganglionic megacolon, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, ... OMIM:609136
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system ORPHA:231736
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Transient hyperphenylalaninemia, Hyperactivity, Depression, Hyperphenylalaninemia, Abnormal circu... OMIM:612716
Atelis Syndrome 2
Attention deficit hyperactivity disorder, Protruding ear, Low-set ears, Remnants of the hyaloid v... OMIM:620185
Developmental Delay With Dysmorphic Facies And Dental Anomalies
EEG abnormality OMIM:619228
Neurodegeneration With Brain Iron Accumulation 1
Optic atrophy, Obsessive-compulsive trait, Dementia, Hyperactivity, Depression, Mental deteriorat... OMIM:234200
Full Nf2-Related Schwannomatosis
Memory impairment, Sensorineural hearing impairment, Facial palsy, Remnants of the hyaloid vascul... ORPHA:637
Sarcoidosis, Susceptibility To, 1
Enlarged lacrimal glands, Abnormal salivary gland morphology, Mediastinal lymphadenopathy, Hepato... OMIM:181000
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Histidinemia
Hyperactivity, Hyperhistidinemia ORPHA:2157
Persistent Hyperplastic Primary Vitreous
Hyaloid vascular remnant and retrolental mass, Tractional retinal detachment, Remnants of the hya... ORPHA:91495
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Macrotia, Thickened helices, Remnants of the hyaloid vascular system ORPHA:2714
Norrie Disease
Optic atrophy, Irritability, Protruding ear, Retinal detachment, Sensorineural hearing impairment... ORPHA:649
Pierson Syndrome
Retinal detachment, Remnants of the hyaloid vascular system, Hypoproteinemia, Retinal hemorrhage OMIM:609049
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal nonattachment, Remnants of the hyaloid vascular system OMIM:221900
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology, Parathyroid hypoplasia, Hypoparathyroidism, Severe postnatal gr... ORPHA:2237
Neuroocular Syndrome
Unilateral deafness, Low-set ears, Remnants of the hyaloid vascular system, Attention deficit hyp... OMIM:619539
Acromelic Frontonasal Dysostosis
Optic nerve hypoplasia, Low-set ears, Remnants of the hyaloid vascular system OMIM:603671
Microphthalmia, Syndromic 2
Retinal detachment, Sensorineural hearing impairment, Anteverted ears, Remnants of the hyaloid va... OMIM:300166
Holoprosencephaly 2
Remnants of the hyaloid vascular system OMIM:157170
Den Hoed-De Boer-Voisin Syndrome
Intrauterine growth retardation, Downslanted palpebral fissures, Tremor, Thick eyebrow OMIM:619229

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 Satb1

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 Satb1.

There are 6 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
The 3D enhancer network of the developing T cell genome is shaped by SATB1. Nature communications (November 2022) Satb1tm1c(EUCOMM)Hmgu Satb1tm1a(EUCOMM)Hmgu PMC9663569
TGF-β-mediated silencing of genomic organizer SATB1 promotes Tfh cell differentiation and formation of intra-tumoral tertiary lymphoid structures. Immunity (January 2022) Satb1tm1c(EUCOMM)Hmgu PMC8852221
Satb1 Regulates Contactin 5 to Pattern Dendrites of a Mammalian Retinal Ganglion Cell. Neuron (August 2017) Satb1tm1a(EUCOMM)Hmgu PMC5575751
SATB1 Expression Governs Epigenetic Repression of PD-1 in Tumor-Reactive T Cells. Immunity (January 2017) Satb1tm1c(EUCOMM)Hmgu PMC5336605
Satb1 Overexpression Drives Tumor-Promoting Activities in Cancer-Associated Dendritic Cells. Cell reports (February 2016) Satb1tm1a(EUCOMM)Hmgu PMC4767618
Maturation-promoting activity of SATB1 in MGE-derived cortical interneurons. Cell reports (November 2012) Satb1tm1a(EUCOMM)Hmgu PMC3607226

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
Satb1tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Satb1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Satb1tm83411(L1L2_gt1_Del_LacZ) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Satb1tm83411(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Satb1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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