Gene: Grin2b MGI:95821

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Gene Summary

Name:
glutamate receptor, ionotropic, NMDA2B (epsilon 2)
Synonyms:
NMDAR2B,  NR2B,  Nmdar2b,  GluRepsilon2,  GluN2B

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
increased mean platelet volume Grin2btm1e.1(KOMP)Wtsi HET Early adult 6.72×10-05
enlarged heart Grin2btm1e.1(KOMP)Wtsi HET Early adult 0.00
preweaning lethality, incomplete penetrance Grin2btm1e.1(KOMP)Wtsi HOM   Early adult 0.00
increased startle reflex Grin2btm1e.1(KOMP)Wtsi HET Early adult 1.67×10-10

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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
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 50% (1 of 2)
Ileum  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote Not available
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Jejunum N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote Not available
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)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote Not available
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available
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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
chest bone Unavailable
colon 8.73% (11 of 126)
diaphragm 0.0%
duodenum 0.79% (1 of 126)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 584)
hindlimb 0.0%
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
ileum 10.32% (13 of 126)
jejunum 3.97% (5 of 126)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
tongue 3.97% (5 of 126)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.67% (14 of 381)
vascular system 0.0%
vesicular gland 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.

Phenotype associated images not available

Human diseases caused by Grin2b 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 Grin2b by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Mental Retardation, Autosomal Dominant 6, With Or Without Seizures
Chorea OMIM:613970
Developmental And Epileptic Encephalopathy 27
Chorea OMIM:616139
Autosomal Dominant Non-Syndromic Intellectual Disability
Bilateral generalized polymicrogyria, Hypoplasia of the corpus callosum, Abnormal cerebral white ... ORPHA:178469
Infantile Spasms Syndrome
ORPHA:3451

The table below shows human diseases predicted to be associated to Grin2b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Persistent Idiopathic Facial Pain
Paresthesia, Depression, Somatic sensory dysfunction, Anxiety, Impaired pain sensation ORPHA:398147
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Severe Primary Trimethylaminuria
Negative affectivity, Low self esteem, Aggressive behavior, Depression, Emotional lability, Anxiety ORPHA:468726
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Schizophrenia 19
Cognitive impairment OMIM:617629
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Anemia, ... OMIM:187800
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Autism, Susceptibility To, 20
Impaired social interactions, Attention deficit hyperactivity disorder OMIM:618830
Bleeding Disorder, Platelet-Type, 24
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Inc... OMIM:619271
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Depression, Emotional lability, Anxiety, Cognitive impai... ORPHA:280397
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Giant platelets, Macrothrombocytopenia OMIM:600208
Sebastian syndrome
Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets OMIM:605249
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, Hyperactivity ORPHA:436151
Ethanolaminosis
Cardiomegaly OMIM:227150
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Mental Retardation, Autosomal Recessive 25
Anxiety OMIM:614346
Panic Disorder 1
Anxiety OMIM:167870
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Mental Retardation, Autosomal Recessive 66
Gait ataxia, Shyness, Attention deficit hyperactivity disorder OMIM:618221
Chorea, Benign Hereditary
Chorea, Anxiety OMIM:118700
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets OMIM:155100
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Depression, Chorea, Ataxia, Anxiety, Inappropriate behavior, Cognitive impairment, Memory impairment ORPHA:401901
Creutzfeldt-Jakob Disease
Gait ataxia, Dementia, Depression, Apathy, Irritability, Anxiety, Memory impairment OMIM:123400
Myh9-Related Disease
Congenital thrombocytopenia, Giant platelets, Increased mean platelet volume, Neutrophil inclusio... ORPHA:182050
Childhood-Onset Benign Chorea With Striatal Involvement
Chorea, Anxiety ORPHA:494541
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Fechtner syndrome
Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets OMIM:153640
Bernard-Soulier Syndrome
Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Giant platelets OMIM:231200
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Slc35A1-Cdg
Thrombocytopenia, Giant platelets, Neutropenia, Abnormal platelet granules ORPHA:238459
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Impaired social interactions OMIM:606053
Basal Ganglia Calcification, Idiopathic, 5
Dementia, Depression, Chorea, Apathy, Anxiety, Cognitive impairment, Athetosis OMIM:615483
Huntington Disease-Like 1
Aggressive behavior, Dementia, Depression, Chorea, Anxiety, Dysmetria OMIM:603218
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly OMIM:153670
Epilepsy, Progressive Myoclonic, 12
Depression, Ataxia, Anxiety, Dysmetria, Mental deterioration OMIM:619191
Pandas
Claustrophobia, Depression, Chorea, Agoraphobia, Separation insecurity, Emotional lability, Impul... ORPHA:66624
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Sitosterolemia 1
Impaired platelet aggregation, Episodic hemolytic anemia, Chronic hemolytic anemia, Stomatocytosi... OMIM:210250
Huntington Disease-Like 2
Dementia, Depression, Chorea, Apathy, Irritability, Anxiety OMIM:606438
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Pelger-Huet Anomaly
Ventricular septal defect, Abnormality of neutrophils, Neutropenia, Hyposegmentation of neutrophi... OMIM:169400
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Immunodeficiency 8
Hyperactivity OMIM:615401
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity OMIM:616657
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Impaired social interactions, No social interaction, Polyphagia ORPHA:329249
Dopa-Responsive Dystonia
Inability to walk, Dystonia, Lethargy, Difficulty walking, Abnormal social behavior, Gait disturb... ORPHA:255
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Intellectual Developmental Disorder, X-Linked 104
Poor eye contact, Ataxia, Hyperactivity OMIM:300983
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Hsd10 Disease
Dysphagia, Abnormal social behavior, Gait disturbance, Ataxia ORPHA:391417
Childhood Disintegrative Disorder
Dementia, Abnormal emotion/affect behavior, Social and occupational deterioration, Motor deterior... ORPHA:168782
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Abnormal social behavior, Hyperactivity ORPHA:101039
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume OMIM:617718
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphol... OMIM:300835
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Takenouchi-Kosaki Syndrome
Thrombocytopenia, Pulmonic stenosis, Abnormal cardiac septum morphology, Increased mean platelet ... OMIM:616737
Syndromic Diarrhea
Atrial septal defect, Thrombocytosis, Ventricular septal defect, Abnormal heart morphology, Lymph... ORPHA:84064
Glycosylphosphatidylinositol Biosynthesis Defect 17
Overfriendliness OMIM:618010
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Giant platelets, Decreased platelet glycoprotei... ORPHA:274
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Thrombocytopenia 1
Decreased mean platelet volume, Intermittent thrombocytopenia, Congenital thrombocytopenia OMIM:313900
Trichohepatoenteric Syndrome 1
Thrombocytosis, Ventricular septal defect, Increased mean platelet volume, Hepatomegaly, Pulmonic... OMIM:222470
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Glycine Encephalopathy
Lethargy, Death in infancy, Hyperactivity OMIM:605899
Chromosome Xp11.23-P11.22 Duplication Syndrome
Shyness OMIM:300801
Congenital Toxoplasmosis
Hepatomegaly, Thrombocytopenia, Cardiomegaly, Anemia ORPHA:858
11Q22.2Q22.3 Microdeletion Syndrome
Poor eye contact, Attention deficit hyperactivity disorder, Abnormal social behavior ORPHA:444002
Severe Intellectual Disability And Progressive Spastic Paraplegia
Difficulty walking, Waddling gait, Dystonia, Shyness ORPHA:280763
Lathosterolosis
Increased mean platelet volume, Anisopoikilocytosis, Acanthocytosis, Hepatosplenomegaly, Schistoc... OMIM:607330
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomyopathy OMIM:617713
Lamb-Shaffer Syndrome
Abnormal social behavior, Ataxia, Hyperactivity ORPHA:530983
Early-Onset Schizophrenia
Low self esteem, Depression, Abnormal emotion/affect behavior, Impairment in personality function... ORPHA:96369
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Sotos Syndrome 3
Hyperactivity OMIM:617169
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Juvenile Huntington Disease
Dystonia, Gait ataxia, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Hyperactivity, Broad-... ORPHA:248111
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Thrombocytopenia, Total anomalous pulmonary venous return, Increased mean platelet volume, Abnorm... ORPHA:487796
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Ataxia, Hyperactivity OMIM:615924
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Anemia OMIM:618838
Fragile X Syndrome
Poor eye contact, Hyperactivity OMIM:300624
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Vacuolated lymphocytes, Splenomegaly OMIM:269920
Hyperprolinemia, Type I
Ataxia, Hyperactivity OMIM:239500
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Neuraminidase Deficiency
Bone-marrow foam cells, Vacuolated lymphocytes, Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiom... OMIM:256550
Myoclonic-Astatic Epilepsy
Impaired social interactions, Ataxia, Unsteady gait, Lack of peer relationships, Hyperactivity, A... ORPHA:1942
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hyperactivity OMIM:274270
Intellectual Developmental Disorder, X-Linked 98
Poor eye contact, Ataxia, Hyperactivity OMIM:300912
Congenital Disorder Of Glycosylation, Type Iif
Thrombocytopenia, Decreased platelet glycoprotein Ib, Neutropenia, Macrothrombocytopenia OMIM:603585
Wiskott-Aldrich Syndrome, Autosomal Dominant
Iron deficiency anemia, Decreased mean platelet volume, Hemolytic anemia, Lymphopenia, Thrombocyt... OMIM:600903
Pseudo-Torch Syndrome 3
Leukocytosis, Congenital thrombocytopenia, Cardiomegaly, Anemia OMIM:618886
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Polyphagia, Ataxia, Hyperactivity ORPHA:411515
Familial Atrial Myxoma
Pulmonic valve myxoma, Cardiomegaly, Cardiac myxoma, Bacterial endocarditis ORPHA:615
Tonne-Kalscheuer Syndrome
Dysphagia, Shyness, Broad-based gait OMIM:300978
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Pericardial effusion, Hepatomegaly, Cardiomegaly, Ventricular septal hyp... OMIM:115197
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
Danon Disease
Myocardial fibrosis, Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Hypertrophic card... OMIM:300257
Timothy Syndrome
Patent foramen ovale, Tetralogy of Fallot, Cardiomegaly, Ventricular septal defect OMIM:601005
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Endocardial fibroelastosis, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:212140
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly OMIM:600649
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Elliptocytosis, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomega... OMIM:618278
Gaucher Disease, Type Iiic
Mitral valve calcification, Hepatomegaly, Pancytopenia, Cardiomegaly, Mitral stenosis, Splenomega... OMIM:231005
Intellectual Disability, Birk-Barel Type
Dysphagia, Fatiguable weakness of proximal limb muscles, Fatigable weakness of skeletal muscles, ... ORPHA:166108
Wiskott-Aldrich Syndrome
Iron deficiency anemia, Decreased mean platelet volume, Decreased proportion of CD8-positive T ce... OMIM:301000
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Pitt-Hopkins-Like Syndrome 1
Impaired social interactions, Ataxia, Hyperactivity OMIM:610042
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Mulibrey Nanism
Hepatomegaly, Pericardial constriction, Myocardial fibrosis, Cardiomegaly OMIM:253250
Sickle Cell Anemia
Hemolytic anemia, Leukocytosis, Hepatomegaly, Increased red cell sickling tendency, Cardiomegaly,... OMIM:603903
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly OMIM:252920
Childhood Absence Epilepsy
Abnormal social behavior, Attention deficit hyperactivity disorder ORPHA:64280
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Impaired social interactions, Shyness, Poor eye contact, Hyperactivity, Attention deficit hyperac... ORPHA:449291
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Atrial septal defect, Cardiomegaly, Ventricular septal defect OMIM:618652
Amyloidosis, Hereditary, Transthyretin-Related
Tremor, Cardiomegaly, Cardiomyopathy OMIM:105210
Lennox-Gastaut Syndrome
Falls, Hyperactivity ORPHA:2382
Potocki-Lupski Syndrome
Poor eye contact, Oral-pharyngeal dysphagia, Hyperactivity OMIM:610883
Metachromatic Leukodystrophy, Late Infantile Form
Dystonia, Gait ataxia, Progressive gait ataxia, Abnormal social behavior, Toe walking ORPHA:309256
Early-Onset Autosomal Dominant Alzheimer Disease
Abnormal social behavior, Ataxia ORPHA:1020
Optic Atrophy 11
Dysmetria, Ataxia, Hyperactivity OMIM:617302
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Dysphagia, Hyperactivity ORPHA:500180
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Splenomegaly OMIM:235200
Cantu Syndrome
Congenital hypertrophy of left ventricle, Pericardial effusion, Cardiomegaly, Bicuspid aortic valve OMIM:239850
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Graves Disease, Susceptibility To, 1
Polyphagia, Hyperactivity OMIM:275000
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Ataxia, Hyperactivity OMIM:612716
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Perimembranous ventricu... ORPHA:1457
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:619051
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Single ventricle, Ventricular septal defect, Mitral atresia, Polysplenia, D... OMIM:306955
Sandhoff Disease
Hepatomegaly, Exaggerated startle response, Hepatosplenomegaly, Cardiomegaly OMIM:268800
Landau-Kleffner Syndrome
Steppage gait, Gait ataxia, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:98818
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Thrombocytopenia, Opisthotonus, Cardiomegaly, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:608013
X-Linked Intellectual Disability, Cilliers Type
Shyness ORPHA:163971
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly OMIM:255120
Adenylosuccinase Deficiency
Inability to walk, Poor eye contact, Gait ataxia, Hyperactivity OMIM:103050
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy OMIM:266500
Metachromatic Leukodystrophy, Juvenile Form
Progressive gait ataxia, Abnormal social behavior, Dystonia ORPHA:309263
47,Xyy Syndrome
Impaired social interactions, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:8
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Truncal ataxia, Ataxia, Unsteady gait, Dysmetria, Hyperact... ORPHA:228360
48,Xxxy Syndrome
Abnormal social behavior, Attention deficit hyperactivity disorder ORPHA:96263
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mitral valve prolapse, Aortic valve stenosis, Cardiomegaly, Abnormal atrioventricular valve morph... ORPHA:324410
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Overfriendliness, Ataxia, Hyperactivity ORPHA:369891
Luscan-Lumish Syndrome
Shyness, Polyphagia OMIM:616831
Blepharophimosis-Impaired Intellectual Development Syndrome
Overfriendliness, Attention deficit hyperactivity disorder OMIM:619293
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response, Anemia OMIM:184850
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Cri-Du-Chat Syndrome
Difficulty walking, Overfriendliness, Hyperactivity OMIM:123450
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomegaly ORPHA:42
Infantile Neuroaxonal Dystrophy
Choking episodes, Dystonia, Gait disturbance, Ataxia, Unsteady gait, Hyperactivity ORPHA:35069
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Cardiomegaly, Hypoplasia of the thymus, Ventricular septal defect OMIM:617022
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Hyperactivity ORPHA:3077
Hsd10 Disease, Infantile Type
Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Athetosis, Ataxia, Hyperactivity ORPHA:382
2Q23.1 Microdeletion Syndrome
Polyphagia, Ataxia, Hyperactivity ORPHA:228402
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:616897
Fg Syndrome Type 1
Abnormal social behavior, Attention deficit hyperactivity disorder, Broad-based gait ORPHA:93932
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:201475
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Metachromatic Leukodystrophy, Adult Form
Progressive gait ataxia, Abnormal social behavior, Dystonia, Difficulty walking ORPHA:309271
Mental Retardation, Autosomal Recessive 38
Unsteady gait, Hyperactivity OMIM:615516
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Dysphagia, Ataxia, Abnormal eating behavior, Hyperactivity, Gait imbalance, Broad-based gait ORPHA:98794
Angelman Syndrome
Inability to walk, Polyphagia, Poor eye contact, Dysphagia, Ataxia, Hyperactivity, Broad-based gait ORPHA:72
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Cardiomyopathy, Biventricular hypertrophy OMIM:261740
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
49,Xxxxy Syndrome
Overfriendliness, Shyness, Attention deficit hyperactivity disorder ORPHA:96264
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity OMIM:618504
Chromosome 15Q25 Deletion Syndrome
Attention deficit hyperactivity disorder, Hyperactivity OMIM:614294
Fucosidosis
Hepatomegaly, Cardiomegaly, Vacuolated lymphocytes, Splenomegaly OMIM:230000
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Symptomatic Form Of Hemochromatosis Type 1
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Splenomegaly ORPHA:465508
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Impaired social interactions, Hyperactivity OMIM:309520
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Complete Atrioventricular Septal Defect
Complete atrioventricular canal defect, Displacement of the papillary muscles, Hepatomegaly, Righ... ORPHA:1329
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Abnormal social behavior, Ataxia, Unsteady gait, Dysmetria, Nonprogressive cerebellar ataxia ORPHA:314647
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Glycogen Storage Disease Ii
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:232300
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly, Enlarged kidney OMIM:608836
Histiocytosis-Lymphadenopathy Plus Syndrome
Atrial septal defect, Ventricular septal defect, Hepatomegaly, Pulmonic stenosis, Histiocytosis, ... OMIM:602782
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Dysphagia, Bradykinesia, Dysmetria, Hyperactivity OMIM:610217
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Atrial septal defect, Myocardial fibrosis, Pulmonic stenosis, Exaggerated startle response, Dilat... OMIM:253800
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart morphology OMIM:114620
Fucosidosis
Hepatomegaly, Cardiomegaly ORPHA:349
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Difficulty walking, Dysphagia, Gait disturbance, Ataxia, Dysmetria, Hyperactivity ORPHA:139396
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response ORPHA:309246
X-Linked Creatine Transporter Deficiency
Dystonia, Athetosis, Ataxia, Hyperactivity ORPHA:52503
Hypertrichotic Osteochondrodysplasia, Cantu Type
Abnormal heart valve morphology, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:1517
Niemann-Pick Disease Type C
Dystonia, Axial dystonia, Progressive gait ataxia, Abnormal social behavior, Gait disturbance, Dy... ORPHA:646
Naxos Disease
Dilated cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Right ventricular ca... OMIM:601214
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy OMIM:619259
Prader-Willi Syndrome Due To Translocation
Abnormal social behavior, Impaired social interactions, Attention deficit hyperactivity disorder ORPHA:177907
1P21.3 Microdeletion Syndrome
Abnormal eating behavior, Shyness ORPHA:293948
Mucopolysaccharidosis, Type Iiic
Dysphagia, Hyperactivity OMIM:252930
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:308552
Mend Syndrome
Abnormal social behavior, Hyperactivity ORPHA:401973
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly ORPHA:255249
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Atrial septal defect, Cardiomegaly, Left ventricular hypertrophy, Bicuspid aortic valve, Patent f... OMIM:245600
Dihydropyrimidine Dehydrogenase Deficiency
Inability to walk, Abnormal social behavior ORPHA:1675
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response OMIM:272750
Truncus Arteriosus
Atrial septal defect, Truncus arteriosus, Abnormal heart morphology, Abnormal heart valve morphol... ORPHA:3384
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Abnormal myocardium morphology, Cardiomegaly, Cardiomyopathy ORPHA:228308
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Right ventricular hypertrophy, Cardiomegaly ORPHA:268
Brain-Lung-Thyroid Syndrome
Abnormal drinking behavior, Dystonia, Ataxia, Abnormal eating behavior, Falls, Hyperactivity ORPHA:209905
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cardiomegaly OMIM:618143
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Splenomegaly, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:252500
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Koolen-De Vries Syndrome
Overfriendliness ORPHA:96169
Abetalipoproteinemia
Reticulocytosis, Hepatomegaly, Cardiomegaly, Anemia, Acanthocytosis ORPHA:14
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Hepatosplenomegaly, Cardiomyopathy ORPHA:79255
Citrullinemia Type Ii
Abnormal eating behavior, Lethargy, Hyperactivity ORPHA:247585
Van Esch-O'Driscoll Syndrome
Shyness OMIM:301030
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Tremor, Atrial septal defect, Ventricular septal defect, Right ventricular hypertrophy, Cardiomeg... OMIM:300967
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity OMIM:618314
Aicardi-Goutières Syndrome
Tremor, Chronic lymphatic leukemia, Cardiomegaly, Hepatosplenomegaly, Neonatal alloimmune thrombo... ORPHA:51
Greenberg Dysplasia
Hepatomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Cardiomegaly OMIM:215140
Mucopolysaccharidosis Type 3
Abnormal mitral valve morphology, Abnormal aortic valve morphology, Hepatomegaly, Cardiomegaly, S... ORPHA:581
Aromatic L-Amino Acid Decarboxylase Deficiency
Limb tremor, Exaggerated startle response OMIM:608643
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Tuberous Sclerosis Complex
Abnormal social behavior, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:805
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity ORPHA:85327
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Koolen-De Vries Syndrome Due To A Point Mutation
Abnormal social behavior, Overfriendliness, Attention deficit hyperactivity disorder ORPHA:363965
17Q21.31 Microdeletion Syndrome
Abnormal social behavior, Overfriendliness, Attention deficit hyperactivity disorder ORPHA:363958
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response ORPHA:438216
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Akinesia, Dysphagia, Gait disturbance, Blepharospasm, Ataxia, Bradykinesia, Hyperactivity OMIM:234200
Trichothiodystrophy
Impaired social reciprocity, Gait ataxia ORPHA:33364
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Atrial septal defect, Single ventricle, Vent... ORPHA:99125
Tay-Sachs Disease
Tremor, Exaggerated startle response ORPHA:845
Tropical Endomyocardial Fibrosis
Coronary artery stenosis, Restrictive cardiomyopathy, Myocardial calcification, Hepatomegaly, Lef... ORPHA:75565
Bohring-Opitz Syndrome
Abnormal cardiac septum morphology, Cardiomegaly ORPHA:97297
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Cardiomegaly, Ventricular septal defect ORPHA:96191
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Cardiomegaly, Bicuspid aortic valve ORPHA:91387
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response ORPHA:521426
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:365
Histiocytoid Cardiomyopathy
Hepatomegaly, Cardiomegaly, Ventricular septal defect ORPHA:137675
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Proteasome-Associated Autoinflammatory Syndrome 1
Microcytic anemia, Hepatomegaly, Thrombocytopenia, Cardiomegaly, Splenomegaly OMIM:256040
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Williams Syndrome
Overfriendliness, Abnormal social behavior, Gait disturbance, Ataxia, Death in early adulthood, D... ORPHA:904
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Pancreatic hyperplasia, Cardiomegaly, Cardiomyopathy OMIM:130650
Beckwith-Wiedemann Syndrome
Enlarged kidney, Polycythemia, Visceromegaly, Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrop... ORPHA:116
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, Ex... ORPHA:438213
Cerebellar Ataxia, Nonprogressive, With Mental Retardation
Dysmetria, Unsteady gait, Ataxia, Hyperactivity OMIM:614756
Yunis-Varon Syndrome
Atrial septal defect, Ventricular septal defect, Cardiomegaly, Tetralogy of Fallot, Cardiomyopathy ORPHA:3472
Mental Retardation, Autosomal Dominant 6, With Or Without Seizures
Chorea OMIM:613970
Histidinemia
Hyperactivity ORPHA:2157
Choreoacanthocytosis
Dysphagia, Blepharospasm, Bradykinesia, Lingual dystonia, Laryngeal dystonia, Progressive inabili... ORPHA:2388
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Pseudobulbar paralysis, Shyness, Ataxia ORPHA:466791
Singleton-Merten Syndrome 1
Mitral valve calcification, Aortic valve stenosis, Cardiomegaly, Aortic valve calcification, Subv... OMIM:182250
Developmental And Epileptic Encephalopathy 27
Chorea OMIM:616139
Autosomal Dominant Non-Syndromic Intellectual Disability
Bilateral generalized polymicrogyria, Hypoplasia of the corpus callosum, Abnormal cerebral white ... ORPHA:178469
Generalized Arterial Calcification Of Infancy
Pericardial effusion, Ventricular hypertrophy, Cardiomegaly, Myocardial calcification ORPHA:51608
Infantile Spasms Syndrome
ORPHA:3451

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 Grin2b

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 Grin2b.

No publications found that use IMPC mice or data for Grin2b.

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MGI Allele Allele Type Produced
Grin2btm1e(KOMP)Wtsi Targeted, non-conditional allele Mice
Grin2btm354689(L1L2_Bact_P) Targeting vectors
Grin2btm37380(L1L2_st0) Targeting vectors
Grin2btm1e.1(KOMP)Wtsi Mice, Tissue
Grin2btm37380(L1L2_gt0) Targeting vectors

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