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Gene: Cttnbp2 MGI:1353467

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Gene Summary

Name:
cortactin binding protein 2
Synonyms:
9130022E09Rik,  Cortbp2,  3010022N24Rik,  ORF4,  4732477G22Rik

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased grip strength Cttnbp2tm1b(KOMP)Wtsi HOM   Early adult 5.70×10-05
decreased transitional stage T1 B cell number Cttnbp2tm1b(KOMP)Wtsi HOM   Early adult 0.00
increased memory CD4-positive, CD25-positive, alpha-beta regulatory T cell number Cttnbp2tm1b(KOMP)Wtsi HOM   Early adult 0.00
increased plasma cell number Cttnbp2tm1b(KOMP)Wtsi HOM   Early adult 0.00

Download data as:  TSV  XLS

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A 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)
Cerebellum N/A heterozygote 100% (2 of 2)
Cerebral cortex N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote 100% (2 of 2)
Hypothalamus N/A heterozygote 100% (2 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 50% (1 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 100% (2 of 2)
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 100% (2 of 2)
Pituitary gland N/A heterozygote 50% (1 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote 100% (2 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus 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)
Uterus N/A heterozygote 0.0% (0 of 2)
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 0.7% (4 of 573)
aorta 0.18% (1 of 571)
blood vessel 0.0%
bone 0.0%
brain 0.53% (3 of 570)
brainstem 0.35% (2 of 564)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 569)
cerebellum 0.53% (3 of 565)
cerebral cortex 0.35% (2 of 565)
eye 0.0%
gall bladder 0.0%
heart 0.35% (2 of 566)
hippocampus 0.53% (3 of 571)
hypothalamus 0.36% (2 of 560)
kidney 3.72% (21 of 565)
large intestine 1.78% (10 of 561)
liver 0.0%
lower urinary tract 0.0%
lung 0.35% (2 of 577)
lymph node 0.18% (1 of 566)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.18% (1 of 553)
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.89% (5 of 559)
parathyroid gland 0.18% (1 of 546)
peripheral nervous system 0.35% (2 of 574)
peyer's patch 0.58% (1 of 171)
pituitary gland 0.18% (1 of 570)
prostate gland 1.77% (10 of 564)
skeletal muscle tissue 0.0%
skin 0.18% (1 of 563)
small intestine 1.59% (9 of 565)
spinal cord 0.53% (3 of 566)
spleen 0.53% (3 of 566)
stomach 2.12% (12 of 565)
striatum 0.53% (3 of 567)
testis 1.05% (6 of 572)
thymus 0.18% (1 of 567)
thyroid gland 2.84% (16 of 563)
trachea 0.53% (3 of 562)
uterus 0.0%
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 Forepaw

11 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

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X-ray

XRay Images Skull Lateral Orientation

11 Images

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X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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X-ray

XRay Images Whole Body Dorso Ventral

12 Images

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Eye Morphology

Images Slit Lamp

2 Images

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Legacy Phenotype Associated Images
Cttnbp2tm1b(KOMP)Wtsi
HOM, Male, WTSI
Cttnbp2tm1b(KOMP)Wtsi
HOM, Male, WTSI
Cttnbp2tm1b(KOMP)Wtsi
HOM, Male, WTSI
Cttnbp2tm1b(KOMP)Wtsi
HOM, Male, WTSI
Cttnbp2tm1b(KOMP)Wtsi
HOM, Female, WTSI

View all 57 images

Cttnbp2tm1b(KOMP)Wtsi
tail, HET, Male, WTSI
Cttnbp2tm1b(KOMP)Wtsi
TS20 mandibular process, HET, Male, WTSI
Cttnbp2tm1b(KOMP)Wtsi
TS20 hindbrain, HET, Male, WTSI
Cttnbp2tm1b(KOMP)Wtsi
TS20 mandibular process, HET, Male, WTSI
Cttnbp2tm1b(KOMP)Wtsi
eyelids fail to open, HOM, Female, WTSI
Cttnbp2tm1b(KOMP)Wtsi
abnormal pupil morphology, abnormal placement of pupils, HOM, Male, WTSI

Human diseases caused by Cttnbp2 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 Cttnbp2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Schizophrenia 19
Cognitive impairment OMIM:617629
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Cognitive impairment, Emotional lability, Anxiety, Atten... ORPHA:280397
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Dementia, Inappropriate behavior, Motor deterioration, Abnormal neuron morphology, Apathy, Bradyk... ORPHA:412066
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Impaired social interactions OMIM:618830
Intellectual Developmental Disorder, Autosomal Recessive 66
Aggressive behavior, Shyness, Gait ataxia, Attention deficit hyperactivity disorder OMIM:618221
Mental Retardation, Autosomal Dominant 52
Hyperactivity, Anxiety OMIM:617796
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, Hyperactivity ORPHA:436151
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk, Irritability OMIM:616657
Mental Retardation, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Ataxia, Mental deterioration, Anxiety, Attention deficit hyperactivity disorder, Depre... OMIM:619191
Zinc Deficiency, Transient Neonatal
Decreased serum zinc OMIM:608118
Iron Overload In Africa
Elevated transferrin saturation OMIM:601195
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity OMIM:619031
Childhood Disintegrative Disorder
Dementia, Social and occupational deterioration, Impaired social interactions, Mental deteriorati... ORPHA:168782
Early-Onset Schizophrenia
Shyness, No social interaction, Unhappy demeanor, Low self esteem, Suicidal ideation, Cognitive i... ORPHA:96369
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Immunodeficiency 84
B lymphocytopenia, Perianal abscess, Splenomegaly OMIM:619437
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Glycine Encephalopathy
Aggressive behavior, Hyperglycinemia, Hyperactivity, Irritability, Impulsivity, Lethargy OMIM:605899
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia OMIM:616941
Immunodeficiency 8
Hyperactivity OMIM:615401
Immunodeficiency 72 With Autoinflammation
Increased B cell count, Hepatosplenomegaly, Increased proportion of memory T cells OMIM:618982
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Huntington Disease-Like 2
Dystonia, Dementia, Apathy, Bradykinesia, Irritability, Anxiety, Depression OMIM:606438
Juvenile Huntington Disease
Dystonia, Dementia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Irritability, Ata... ORPHA:248111
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Phenylketonuria
Maternal hyperphenylalaninemia, Aggressive behavior, Self-mutilation, Hyperphenylalaninemia, Hype... OMIM:261600
Pandas
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... ORPHA:66624
Dopa-Responsive Dystonia
Panic attack, Gait disturbance, Dystonia, Arm dystonia, Agoraphobia, Inability to walk, Irritabil... ORPHA:255
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Aggressive behavior, Impulsivity OMIM:604317
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Hyperprolinemia, Type I
Hyperprolinemia, Hyperactivity, Aggressive behavior, Ataxia OMIM:239500
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Aggressive behavior, Ataxia, Poor eye contact OMIM:300983
Hyperzincemia With Functional Zinc Depletion
Increased serum zinc OMIM:601979
Lennox-Gastaut Syndrome
Aggressive behavior, Falls, Hyperactivity, Personality disorder, Mental deterioration ORPHA:2382
Landau-Kleffner Syndrome
Steppage gait, Aggressive behavior, Social and occupational deterioration, Hyperactivity, Emotion... ORPHA:98818
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia OMIM:618987
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Aggressive behavior, Impulsivity OMIM:309548
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Hyperactivity, Ataxia, Hypertriglyceridemia, Mental deterioration OMIM:615924
Fraxe Intellectual Disability
Hyperactivity, Aggressive behavior, Impulsivity ORPHA:100973
Mental Retardation, Autosomal Dominant 43
Hyperactivity, Anxiety, Impulsivity OMIM:616977
Female Restricted Epilepsy With Intellectual Disability
Aggressive behavior, Hyperactivity, Impulsivity, Abnormal social behavior, Anxiety ORPHA:101039
11Q22.2Q22.3 Microdeletion Syndrome
Abnormal social behavior, Anxiety, Attention deficit hyperactivity disorder, Poor eye contact ORPHA:444002
Cntnap2-Related Developmental And Epileptic Encephalopathy
Skin-picking, Abnormal neuron morphology, Aggressive behavior, Self-mutilation, Poor eye contact,... ORPHA:163681
Immunodeficiency 76
B lymphocytopenia, T lymphocytopenia, Lymphopenia, Splenomegaly OMIM:619164
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia OMIM:616873
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Hyperactivity, Irrit... ORPHA:3077
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Decreased proportion of class-switched memory B cells, Splenomegaly, Incr... OMIM:615559
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Anxiety, Aggressive behavior, Gait ataxia OMIM:609425
Coffin-Siris Syndrome 8
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:618362
Immunodeficiency 13
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased CD... OMIM:615518
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... ORPHA:231154
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:301008
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Xq25 Microduplication Syndrome
Hyperactivity, Anxiety ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Hyperactivity, Anxiety OMIM:300979
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Aggressive behavior, Hyperactivity, Ataxia, Transient hyperphenylalaninemia OMIM:612716
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior OMIM:615541
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Elevated circulating gamma-a... OMIM:271980
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Broad-based gait OMIM:619470
Early-Onset Autosomal Dominant Alzheimer Disease
Dementia, Semantic dementia, Ataxia, Disinhibition, Abnormal social behavior, Memory impairment ORPHA:1020
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:603909
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Aggressive behavior, Hyperactivity, Anxiety, Depression OMIM:619467
Cln5 Disease
Dysmetria, Aggressive behavior, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ataxia, Tru... ORPHA:228360
Pitt-Hopkins-Like Syndrome 1
Aggressive behavior, Hyperactivity, Ataxia, Impaired social interactions, Progressive language de... OMIM:610042
Hyperlysinemia, Type I
Hyperactivity, Cognitive impairment, Hyperlysinemia OMIM:238700
Aceruloplasminemia
Dystonia, Decreased circulating copper concentration, Aceruloplasminemia, Elevated hepatic iron c... ORPHA:48818
Rasmussen Subacute Encephalitis
Hemidystonia, Cognitive impairment, Hyperactivity, Inability to walk, Emotional lability, Irritab... ORPHA:1929
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased serum zinc, Decreased serum iron, Abnormal circulating selenium concentration, Hypoalbu... ORPHA:89842
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity OMIM:618090
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Shyness, Self-injurious behavior, Aggressive behavior, Poor eye contact, Attention deficit hypera... ORPHA:449291
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Happy demeanor, Inappropriate laughter, Ataxia, Hyperactivity, Broad-based gait ORPHA:411515
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Aggressive behavior OMIM:618342
Clcn4-Related X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Aggressive behavior, Hyperactivity, Progressive cerebellar ataxia, Unste... ORPHA:485350
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypomagnesemia, Hyperactivity, Hypokalemia, Self-biting OMIM:618314
Intellectual Developmental Disorder, X-Linked 107
Attention deficit hyperactivity disorder, Anxiety, Aggressive behavior, Hyperactivity OMIM:301013
Hsd10 Disease
Abnormal social behavior, Gait disturbance, Ataxia ORPHA:391417
Immunodeficiency 68
B lymphocytopenia, Abscess, T lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Autosomal Recessive Non-Syndromic Intellectual Disability
Hyperactivity, Dystonia, Depression, Impulsivity ORPHA:88616
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Hyperactivity, Inability to walk, Paroxysmal bursts of laughter OMIM:618718
X-Linked Adrenoleukodystrophy
Gait disturbance, Dementia, Aggressive behavior, Cognitive impairment, Inappropriate sexual behav... ORPHA:43
Guanidinoacetate Methyltransferase Deficiency
Athetosis, Dystonia, Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia ORPHA:382
Ck Syndrome
Hyperactivity, Aggressive behavior, Irritability ORPHA:251383
Slc39A8-Cdg
Dystonia, Inability to walk, Abnormal blood zinc concentration, Hypomanganesemia ORPHA:468699
Mental Retardation, Autosomal Recessive 61
Hyperactivity, Aggressive behavior OMIM:617773
Intellectual Developmental Disorder, Autosomal Recessive 38
Unsteady gait, Hyperactivity, Aggressive behavior, Self-mutilation OMIM:615516
Childhood Absence Epilepsy
Low self esteem, Abnormal social behavior, Anxiety, Attention deficit hyperactivity disorder, Dep... ORPHA:64280
Myoclonic-Astatic Epilepsy
Lack of peer relationships, Hyperactivity, Attention deficit hyperactivity disorder, Ataxia, Unst... ORPHA:1942
Clark-Baraitser Syndrome
Hyperactivity, Aggressive behavior OMIM:617752
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Dystonia, Aggressive behavior, Hyperactivity, Inability to walk, Impulsivity, Gait ataxia ORPHA:500180
Ck Syndrome
Hyperactivity, Aggressive behavior, Irritability OMIM:300831
Hemochromatosis Type 2
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Elevated transferr... ORPHA:79230
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Hyperactivity, Happy demeanor, Broad-based gait OMIM:617865
Late Infantile Neuronal Ceroid Lipofuscinosis
Gait disturbance, Dementia, Motor deterioration, Aggressive behavior, Hyperactivity, Inability to... ORPHA:168491
Omenn Syndrome
B lymphocytopenia, Hypoplasia of the thymus, Anemia, Splenomegaly, Severe B lymphocytopenia, Thro... OMIM:603554
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Psychomotor deterioration, Hyperactivity, Ataxia, Emotional lability,... ORPHA:35069
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Aggressive behavior, Broad-based gait ORPHA:457260
Gand Syndrome
Hyperactivity, Inappropriate laughter OMIM:615074
Severe Neurodegenerative Syndrome With Lipodystrophy
Progressive psychomotor deterioration, Cognitive impairment, Hyperactivity, Ataxia, Hypertriglyce... ORPHA:363400
Adenylosuccinase Deficiency
Happy demeanor, Aggressive behavior, Self-mutilation, Poor eye contact, Inappropriate laughter, H... OMIM:103050
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Lethargy OMIM:274270
Intellectual Developmental Disorder, X-Linked 30
Hyperactivity, Anxiety, Aggressive behavior OMIM:300558
Hemochromatosis, Neonatal
Increased serum iron, Increased circulating ferritin concentration, Abnormality of iron homeostasis OMIM:231100
Lysinuric Protein Intolerance
Abnormal circulating serine concentration, Decreased HDL cholesterol concentration, Increased LDL... ORPHA:470
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Decreased serum zinc ORPHA:541423
Gomez-Lopez-Hernandez Syndrome
Self-injurious behavior, Cognitive impairment, Hyperactivity, Ataxia, Depression, Bipolar affecti... OMIM:601853
Metachromatic Leukodystrophy, Adult Form
Dystonia, Progressive psychomotor deterioration, Dementia, Progressive gait ataxia, Emotional lab... ORPHA:309271
Hyperphosphatasia With Mental Retardation Syndrome 6
Elevated circulating creatine kinase concentration, Hyperactivity, Aggressive behavior OMIM:616809
Fragile X Syndrome
Hyperactivity, Poor eye contact OMIM:300624
Citrullinemia Type Ii
Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Aggressive behavior, Hy... ORPHA:247585
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Aggressive behavior OMIM:615286
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity, Aggressive behavior OMIM:615824
Neurodegeneration With Brain Iron Accumulation 2B
Dystonia, Dysmetria, Bradykinesia, Hyperactivity, Dysdiadochokinesis, Emotional lability, Impulsi... OMIM:610217
Graves Disease, Susceptibility To, 1
Hyperactivity, Irritability OMIM:275000
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis ORPHA:75563
Copper Deficiency, Familial Benign
Decreased circulating copper concentration, Abnormal circulating copper concentration OMIM:121270
Lamb-Shaffer Syndrome
Abnormal social behavior, Hyperactivity, Ataxia ORPHA:530983
X-Linked Creatine Transporter Deficiency
Athetosis, Dystonia, Abnormal circulating creatine concentration, Self-mutilation, Hyperactivity,... ORPHA:52503
Mental Retardation, Autosomal Dominant 7
Gait disturbance, Happy demeanor, Inappropriate laughter, Hyperactivity, Ataxia OMIM:614104
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Aggressive behavior, Broad-based gait OMIM:300958
Metachromatic Leukodystrophy, Juvenile Form
Dystonia, Progressive psychomotor deterioration, Progressive gait ataxia, Emotional lability, Abn... ORPHA:309263
Cri-Du-Chat Syndrome
Aggressive behavior, Conspicuously happy disposition, Self-mutilation, Hyperactivity, Overfriendl... OMIM:123450
Mednik Syndrome
Decreased circulating copper concentration, Decreased circulating ceruloplasmin concentration ORPHA:171851
X-Linked Lymphoproliferative Disease
Increased B cell count, B lymphocytopenia, Increased T cell count, Bone marrow hypocellularity, S... ORPHA:2442
Optic Atrophy 11
Dysmetria, Hyperactivity, Ataxia OMIM:617302
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity, Aggressive behavior ORPHA:369939
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Hyperactivity, Paroxysmal bursts of laughter, Ataxia ORPHA:228402
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Aggressive behavior, Progressive neurologic deterioration OMIM:252920
Metachromatic Leukodystrophy, Late Infantile Form
Dystonia, Progressive gait ataxia, Emotional lability, Tip-toe gait, Abnormal social behavior, Ga... ORPHA:309256
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Mood swings, Hyperactivity, Aggressive behavior, Gait ataxia OMIM:300354
Smith-Magenis Syndrome
Self-mutilation, Hypercholesterolemia, Hyperactivity, Hypertriglyceridemia, Head-banging OMIM:182290
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Impulsivity OMIM:300143
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:600430
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Aggressive behavior, Hyperactivity, Emotional lability, Low frustration tolerance, Impaired socia... OMIM:309520
Autoimmune Lymphoproliferative Syndrome
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... ORPHA:3261
47,Xyy Syndrome
Attention deficit hyperactivity disorder, Hyperactivity, Impaired social interactions, Impulsivity ORPHA:8
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Aggressive behavior, Irritability ORPHA:391307
Beta-Thalassemia
Abnormality of iron homeostasis, Irritability ORPHA:848
Potocki-Lupski Syndrome
Hypocholesterolemia, Hyperactivity, Poor eye contact OMIM:610883
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Decreased serum zinc, Abnormal circulating selenium concentration, Decreased plasma total carniti... ORPHA:79408
Niemann-Pick Disease Type C
Gait disturbance, Dystonia, Dementia, Axial dystonia, Bipolar affective disorder, Aggressive beha... ORPHA:646
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Aggressive behavior, Self-biting ORPHA:3306
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Anxiety, Aggressive behavior, Ataxia OMIM:618430
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Overfriendliness, Hyperactivity, Aggressive behavior, Ataxia ORPHA:369891
16P12.1P12.3 Triplication Syndrome
Skin-picking, Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Nail-biting ORPHA:485405
Angelman Syndrome
Happy demeanor, Self-injurious behavior, Aggressive behavior, Poor eye contact, Inappropriate lau... ORPHA:72
Myopathy With Extrapyramidal Signs
Dystonia, Elevated circulating creatine kinase concentration, Hypervalinemia, Extremely elevated ... OMIM:615673
X-Linked Cerebral Adrenoleukodystrophy
Gait disturbance, Dysmetria, Abnormal circulating fatty-acid concentration, Hyperactivity, Inabil... ORPHA:139396
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Reduced red cell adenosine deaminase level, Splenomegaly, Aplasia of the thymu... OMIM:102700
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Happy demeanor, Gait imbalance, Inappropriate laughter, Ataxia, Hyperactivity, Broad-based gait ORPHA:98794
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Hyperactivity, Self-mutilation, Low frustration tolerance, Inappropriate laughter ORPHA:363686
Choreoacanthocytosis
Self-injurious behavior, Oromandibular dystonia, Apathy, Irritability, Anxiety, Hair-pulling, Lin... ORPHA:2388
Intellectual Developmental Disorder, X-Linked 98
Self-biting, Aggressive behavior, Poor eye contact, Hyperactivity, Ataxia, Anxiety, Impaired soci... OMIM:300912
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Self-mutilation, Low frustration tolerance, Gait ataxia OMIM:300486
Symptomatic Form Of Hemochromatosis Type 1
Abnormality of iron homeostasis, Apathy, Elevated transferrin saturation, Increased circulating f... ORPHA:465508
13Q12.3 Microdeletion Syndrome
Hyperactivity, Self-mutilation ORPHA:412035
Glass Syndrome
Hyperactivity, Aggressive behavior, Happy demeanor, Broad-based gait OMIM:612313
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Dysmetria, Aggressive behavior, Ataxia, Nonprogressive cerebellar ataxia, Abnormal social behavio... ORPHA:314647
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
48,Xxxy Syndrome
Attention deficit hyperactivity disorder, Irritability, Abnormal social behavior, Anxiety, Abnorm... ORPHA:96263
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Attention deficit hyperactivity disorder OMIM:614294
Argininemia
Spastic gait, Hyperammonemia, Hyperactivity, Irritability, Hyperargininemia OMIM:207800
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Gait disturbance, Dementia, Bradykinesia, Depression, Hyperactivity, Ataxia, Akinesia, ... OMIM:234200
Insensitivity To Pain, Congenital, With Anhidrosis
Emotional lability, Hyperactivity, Self-mutilation OMIM:256800
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Steppage gait, Abnormal circulating copper concentration ORPHA:521411
Angelman Syndrome
Hyperactivity, Paroxysmal bursts of laughter, Progressive gait ataxia, Broad-based gait OMIM:105830
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Motor deterioration OMIM:252930
Prader-Willi Syndrome Due To Translocation
Skin-picking, Happy demeanor, Attention deficit hyperactivity disorder, Abnormal social behavior,... ORPHA:177907
Fg Syndrome Type 1
Abnormal social behavior, Attention deficit hyperactivity disorder, Broad-based gait ORPHA:93932
Tuberous Sclerosis Complex
Self-injurious behavior, Aggressive behavior, Hyperactivity, Impulsivity, Abnormal social behavio... ORPHA:805
Mend Syndrome
Elevated 8(9)-cholestenol, Aggressive behavior, Elevated 8-dehydrocholesterol, Hyperactivity, Abn... ORPHA:401973
7Q11.23 Microduplication Syndrome
Self-injurious behavior, Dysmetria, Aggressive behavior, Hyperactivity, Unsteady gait, Anxiety, I... ORPHA:96121
Wiedemann-Steiner Syndrome
Aggressive behavior, Hyperactivity, Low frustration tolerance, Psychomotor deterioration, Anxiety ORPHA:319182
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity, Neonatal hyperbilirubinemia OMIM:609727
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Dystonia, Violent behavior, Torticollis, Suicidal ideation, Aggressive behavior, Cognitive impair... OMIM:619475
Dihydropyrimidine Dehydrogenase Deficiency
Abnormal social behavior, Inability to walk, Abnormal aggressive, impulsive or violent behavior, ... ORPHA:1675
Mucopolysaccharidosis Type 3
Gait disturbance, Dementia, Loss of ambulation, Aggressive behavior, Progressive neurologic deter... ORPHA:581
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Hyperactivity, Ataxia ORPHA:760
Joubert Syndrome 1
Hyperactivity, Aggressive behavior, Self-mutilation, Ataxia OMIM:213300
Legius Syndrome
Hyperactivity, Dystonia, Attention deficit hyperactivity disorder, Cognitive impairment ORPHA:137605
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Dysmetria, Aggressive behavior, Hyperactivity, Ataxia, Unsteady gait OMIM:614756
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear/anxiety-related behavior, Agoraphobia, Self-injurious behavior, Aggressive behavior... ORPHA:353281
Histidinemia
Hyperhistidinemia, Hyperactivity ORPHA:2157
Mucopolysaccharidosis Type 2
Aggressive behavior, Cognitive impairment, Progressive neurologic deterioration, Hyperactivity, I... ORPHA:580
Koolen-De Vries Syndrome Due To A Point Mutation
Inappropriate laughter, Overfriendliness, Anxiety, Attention deficit hyperactivity disorder, Abno... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Inappropriate laughter, Overfriendliness, Anxiety, Attention deficit hyperactivity disorder, Abno... ORPHA:363958
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Hair-pulling, Irritability ORPHA:447997
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal fear/anxiety-related behavior, Agoraphobia, Self-injurious behavior, Aggressive behavior... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal fear/anxiety-related behavior, Agoraphobia, Self-injurious behavior, Aggressive behavior... ORPHA:353277
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Early Infantile Epileptic Encephalopathy
Self-injurious behavior, Dystonia, Hyperactivity, Episodic ataxia ORPHA:1934
Hereditary Sensory And Autonomic Neuropathy Type 4
Self-mutilation, Hyperactivity, Impulsivity, Difficulty walking, Abnormal emotion/affect behavior... ORPHA:642
Williams Syndrome
Gait disturbance, Hypercalcemia, Gait imbalance, Dysmetria, Abnormal circulating lipid concentrat... ORPHA:904

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 Cttnbp2

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 Cttnbp2.

There are 5 publications 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) Cttnbp2tm1b(KOMP)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Cttnbp2tm1b(KOMP)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Cttnbp2tm1b(KOMP)Wtsi