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Gene: Btnl2 MGI:1859549

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Gene Summary

Name:
butyrophilin-like 2
Synonyms:
BTL-II,  NG9,  BTLN2,  butyrophylin-like MHC class II associated

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.

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Btnl2 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 Btnl2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Sarcoidosis
Hepatic failure, Enlarged lacrimal glands, Decreased liver function, Parotitis, Leukopenia, Enlar... ORPHA:797
Sarcoidosis, Susceptibility To, 2
Splenomegaly, Bronchiectasis, Erythema nodosum, Uveitis OMIM:612387

The table below shows human diseases predicted to be associated to Btnl2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Bloody diarrhea, Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia, Ulc... OMIM:619398
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distention OMIM:616868
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Minimal change glomerulonephritis, Decreased specific pneumococcal antibody level, Impaired lymph... OMIM:617006
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Abnormal T cell count, Inflammation of the large intestine, Muco... OMIM:615767
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Decreased circu... OMIM:616098
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Diarrhea, Reduced natural killer cell count, Partial absence... OMIM:618108
Inflammatory Bowel Disease 28, Autosomal Recessive
Hematochezia, Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis OMIM:613148
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pneumonia, Decrea... OMIM:619281
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hepatitis, Hemophagocytosis, ... OMIM:300635
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal... OMIM:619079
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct... OMIM:266600
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Colonic eosinophil... OMIM:617638
Immunodeficiency 70
Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, Recurrent s... OMIM:618969
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Pancolitis, Perianal abscess, Enterocutaneous fistula, Enterocolitis, Rectovaginal ... OMIM:612567
Immunodeficiency 76
Recurrent pneumonia, Lymphopenia, Splenomegaly, T lymphocytopenia, B lymphocytopenia, Colitis, Ch... OMIM:619164
Cutaneous Photosensitivity And Colitis, Lethal
Colitis, Diarrhea OMIM:219095
Hirschsprung Disease, Susceptibility To, 1
Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Enterocolitis, Constipatio... OMIM:142623
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Elevated circulating C-reactive protein conc... OMIM:604416
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Decreased circulating IgG level, Ulcerative colitis, Panc... OMIM:618394
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain OMIM:191390
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Colitis ORPHA:88643
Immunodeficiency 97 With Autoinflammation
Diarrhea, Hemophagocytosis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Decreased pr... OMIM:619802
5-Oxoprolinase Deficiency
Abdominal pain, Vomiting, Diarrhea, Enterocolitis OMIM:260005
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lymphopenia, Skin rash, Ileal ulcer, Thrombocytopenia, Colitis, Hemolytic anemia, Anterior uveitis OMIM:616744
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,... OMIM:613101
Epidermolysis Bullosa Acquisita
Abdominal pain, Inflammation of the large intestine ORPHA:46487
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Reduced natural killer cell count, Secretory diarrhea, Increased circulating fer... OMIM:616050
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Inflammation of the large intestine, Diarrhea, Anoperinea... OMIM:301074
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Inflammation of the large intestine, Diarrhea, Psoriasiform dermatitis, Autoimmune thrombocytopen... ORPHA:436159
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Inflammation of the large intestine, Eczematoid dermatitis, Chro... ORPHA:98813
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Colonic atresia, Lymphopenia, Psoriasiform dermatitis, Intestinal obstruction, Rec... OMIM:243150
Gastroesophageal Reflux
Barrett esophagus, Gastroesophageal reflux, Esophagitis, Esophageal neoplasm OMIM:109350
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Perioral eczema, Diarrhea, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent sinusiti... OMIM:613960
Pseudomyxoma Peritonei
Inflammation of the large intestine, Nausea and vomiting, Intestinal obstruction, Constipation, A... ORPHA:26790
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... OMIM:614700
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis, Decreased proportion of... OMIM:614878
Dyskeratosis Congenita, Autosomal Recessive 5
Colitis, Leukopenia, Decreased circulating antibody level, Esophageal stenosis OMIM:615190
Radiation Proctitis
Hematochezia, Arteritis, Diarrhea, Tenesmus, Abnormal rectum morphology, Intestinal obstruction, ... ORPHA:70475
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Allergic rhinitis, Atopic dermatitis, Gastroesophageal reflux, Vomiting, Eosinophilic microabsces... ORPHA:411696
Pyoderma Gangrenosum
Inflammation of the large intestine, Rheumatoid arthritis, Increased circulating antibody level, ... ORPHA:48104
Esophagitis, Eosinophilic, 1
Eosinophilia, Vomiting, Esophagitis, Dysphagia OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia, Vomiting, Esophagitis, Dysphagia OMIM:613412
Diarrhea 6
Abdominal pain, Chronic diarrhea, Meteorism, Crohn's disease OMIM:614616
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Interm... OMIM:616433
Dyskeratosis Congenita, Autosomal Recessive 8
Inflammation of the large intestine, Reduced natural killer cell count, Oral leukoplakia, Pancyto... OMIM:620133
Mhc Class Ii Deficiency 1
Chronic mucocutaneous candidiasis, Protracted diarrhea, Panhypogammaglobulinemia, Villous atrophy... OMIM:209920
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Lymphadenitis, Chronic mucocutaneous candidiasis, Decreased proportion of CD8-positive... ORPHA:911
Sweet Syndrome
Inflammation of the large intestine, Abnormal circulating interleukin concentration, Increased ci... ORPHA:3243
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Increased circulating interleukin 6 concentration, Hemophagocytosis, Decreased l... ORPHA:540
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Atopic dermatitis, Gastroesophageal reflux, Increased circulating IgE level, Eosinophilic infiltr... OMIM:620532
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia, Diarrhea, Protracted diarrhea, Acute colitis, Leukocytosis, Intestinal obstructi... ORPHA:67
Immunodeficiency 92
Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta... OMIM:619652
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Granuloma, Anal fissure, Lymphopenia, ... OMIM:618935
Autoimmune Hepatitis
Inflammation of the large intestine, Gastrointestinal hemorrhage, Increased circulating IgG level... ORPHA:2137
Secondary Short Bowel Syndrome
Diarrhea, Vomiting, Volvulus, Malnutrition, Villous atrophy, Malabsorption, Abnormal small intest... ORPHA:95427
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Enterocolitis OMIM:620425
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, A... ORPHA:37042
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin rash, Palmoplan... ORPHA:324964
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Hepatosplenomegaly, Colonic eosinophilia, Eosinophilia, Membranous nephropathy... OMIM:618999
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Decreased circulating IgG level, Diarrhea, Eczematoid dermatitis, Lymphopenia... OMIM:616100
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Hematochezia, Inflammation of the large intestine, Recurrent pneu... OMIM:617718
Cyclic Neutropenia
Periodontitis, Lymphopenia, Cyclic neutropenia, Otitis media, Peritonitis, Enterocolitis, Periana... ORPHA:2686
Immunodeficiency 82 With Systemic Inflammation
Diarrhea, Anoperineal fistula, Pustular rash, Decreased circulating total IgG, Recurrent otitis m... OMIM:619381
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Diarrhea, Recurrent otitis media, Lymphopenia, Decreased pro... OMIM:301000
Immunodeficiency 58
Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Eczematoid dermatitis, Cutaneous abscess,... OMIM:618131
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Vomiting, Elevated circulating creatine kinase concentration, Abdominal pain, High palate, Necrot... OMIM:616809
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Shigellosis
Microangiopathic hemolytic anemia, Abscess, Anorexia, Abdominal pain, Intestinal perforation, Blo... ORPHA:810
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... ORPHA:3261
Trichohepatoenteric Syndrome 2
Diarrhea, Villous atrophy, Chronic hepatitis, Colitis, Chronic diarrhea, Bloody diarrhea OMIM:614602
Alopecia Totalis
Inflammation of the large intestine ORPHA:700
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Crohn's disease, Agammaglobulinemia, Absent circulating B cells,... OMIM:619705
Spondyloarthropathy, Susceptibility To, 1
Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthritis, Psoriasiform derma... OMIM:106300
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Decreased specific anti-polysaccharide antibody level, Pancy... OMIM:614576
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Inflammation of the large intestine, Lymphadenitis, Eczematoid dermatitis, Leukocyt... OMIM:615895
Iga Pemphigus
Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Eosinophilia, Increased circul... ORPHA:555905
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Diarrhea, Vomiting, Microangiopathic hemolytic anemia, Bloody diarrhea, Acute colitis, Leukocytos... ORPHA:90038
Pgm3-Cdg
Allergic rhinitis, Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Esophagi... ORPHA:443811
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Recurrent pneumonia, Increased circulating interleukin 8 concentration, Reduced circulating inter... OMIM:301220
Sapho Syndrome
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Malabsorption, Chron... ORPHA:793
Sandifer Syndrome
Gastroesophageal reflux, Esophagitis, Hiatus hernia, Hematemesis, Episodic vomiting, Anemia, Feed... ORPHA:71272
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Anoperineal fistula, Increased circulating IgE level, Leukocytosis, Pancoliti... OMIM:618213
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Diarrhea, Eczematoid dermatitis, Chronic mucocutaneous cand... ORPHA:391487
Zygomycosis
Diarrhea, Ileitis, Pustule, Acute infectious pneumonia, Neutropenia, Abdominal pain, Endocarditis... ORPHA:73263
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Abnormal eosinophil morphology, Acute leukemia, Microcytic a... ORPHA:906
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Granuloma, Interface hepatitis, Sclerosing cholangitis, Gran... ORPHA:562639
Sepsis In Premature Infants
Vomiting, Diarrhea, Increased circulating interleukin 6 concentration, Decreased liver function, ... ORPHA:90051
Infection-Related Hemolytic Uremic Syndrome
Diarrhea, Abdominal pain, Intestinal perforation, Abnormal circulating chemokine concentration, G... ORPHA:544482
Thymoma
Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Ulcerative colitis, Myosi... ORPHA:99867
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Inflammation of the large intestine, Lymphopenia, Absent uvula, Intestinal atresia, Rectovaginal ... OMIM:619708
Autoinflammatory Disease, Systemic, With Vasculitis
Diarrhea, Hepatosplenomegaly, Abnormal circulating IgG level, Elevated circulating C-reactive pro... OMIM:620376
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Reduced natural killer cell count, Ecz... OMIM:243700
Hermansky-Pudlak Syndrome 1
Abdominal pain, Inflammation of the large intestine, Colitis, Hematochezia OMIM:203300
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Hepatic failure, Myeloid leukemia ORPHA:331
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Enterocolitis, Decreased pineal volume OMIM:301108
Kindler Epidermolysis Bullosa
Cheilitis, Inflammation of the large intestine, Periodontitis, Esophagitis, Colitis, Abnormality ... ORPHA:2908
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Gastroesophageal reflux, Necrotizing enterocolitis, Episodic vomiting, Elevated circulating creat... OMIM:201475
Reactive Arthritis
Inflammation of the large intestine, Diarrhea, Osteomyelitis, Recurrent aphthous stomatitis, Pust... ORPHA:29207
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Hepatosplenomegaly, Thrombocytosis, Feeding difficulties in... ORPHA:3260
Pancreatic Triacylglycerol Lipase Deficiency
Diarrhea, Exocrine pancreatic insufficiency, Colitis, Keratoconjunctivitis sicca, Iron deficiency... ORPHA:309031
Glycogen Storage Disease Ib
Inflammation of the large intestine, Gout, Splenomegaly, Pancreatitis, Protuberant abdomen, Neutr... OMIM:232220
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Abnormal myeloid leukocyte morphology, Inflammation of the large intestine, Diarrhea, Periodontit... ORPHA:79259
Syndromic Diarrhea
Intractable diarrhea, Panhypogammaglobulinemia, Lymphopenia, Villous atrophy, Splenomegaly, Hypop... ORPHA:84064
Hyperlipoproteinemia, Type Id
Colitis, Recurrent pancreatitis, Pancreatitis, Splenomegaly OMIM:615947
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Early satiety, Diarrhea, Increased circulating IgE level, Eosinophilic infiltration of the esopha... OMIM:147060
Plague
Inflammation of the large intestine, Diarrhea, Lymphadenitis, Vomiting, Chapped lip, Bloody diarr... ORPHA:707
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Hepatic failure, Secretory diarrhea, Lymphopenia, Feeding difficulties, Villo... OMIM:619573
Familial Mediterranean Fever
Diarrhea, Vomiting, Erysipelas, Leukocytosis, Splenomegaly, Chronic constipation, Crohn's disease... OMIM:249100
Glycogen Storage Disease Ic
Inflammation of the large intestine, Cyclic neutropenia, Gout, Chronic pancreatitis, Hepatoblasto... OMIM:232240
Primary Sclerosing Cholangitis
Hypoalbuminemia, Uveitis, Cholelithiasis, Hepatitis, Celiac disease, Acute hepatic failure, Hepat... ORPHA:171
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Enlarged lacrimal glands, Pancytopenia, Splenomegaly, Increa... OMIM:181000
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Gastroesophageal reflux, Esophagitis, Feeding difficulties ORPHA:79350
Cocaine Intoxication
Vomiting, Gastrointestinal infarctions, Elevated circulating creatine kinase concentration, Nause... ORPHA:90068
Hereditary Hyperekplexia
Hiatus hernia, Esophagitis, Gastroesophageal reflux ORPHA:3197
Multiple Endocrine Neoplasia, Type I
Peptic ulcer, Diarrhea, Pituitary adenoma, Increased circulating prolactin concentration, Pituita... OMIM:131100
Chronic Thromboembolic Pulmonary Hypertension
Elevated circulating C-reactive protein concentration, Osteomyelitis, Inflammation of the large i... ORPHA:70591
Zollinger-Ellison Syndrome
Hematochezia, Gastrointestinal hemorrhage, Diarrhea, Peptic ulcer, Pituitary adenoma, Pituitary p... ORPHA:913
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Recurrent otitis media, Esophagitis, Macrocytic anemia, Neutro... OMIM:612562
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Esophagitis ORPHA:3348
Microgastria-Limb Reduction Defect Syndrome
Microgastria, Gastroesophageal reflux, Intestinal malrotation, Abnormality of the spleen, Esophag... ORPHA:2538
Esophageal Atresia
Barrett esophagus, Gastrointestinal carcinoma, Gastroesophageal reflux, Vomiting, Intestinal malr... ORPHA:1199
Fumarase Deficiency
Hepatic failure, High palate, Polycythemia, Necrotizing enterocolitis OMIM:606812
Turner Syndrome Due To Structural X Chromosome Anomalies
High, narrow palate, Inflammation of the large intestine, Recurrent otitis media, Abnormality of ... ORPHA:99413
Turner Syndrome
High, narrow palate, Inflammation of the large intestine, Recurrent otitis media, Abnormality of ... ORPHA:881
Mosaic Monosomy X
High, narrow palate, Inflammation of the large intestine, Recurrent otitis media, Abnormality of ... ORPHA:99228
Monosomy X
High, narrow palate, Inflammation of the large intestine, Recurrent otitis media, Abnormality of ... ORPHA:99226
Bardet-Biedl Syndrome
Inflammation of the large intestine, Decreased testicular size, Otitis media, Cryptorchidism, Pol... ORPHA:110
Frontometaphyseal Dysplasia 2
Bifid uvula, Gastroesophageal reflux, Cryptorchidism, Feeding difficulties in infancy, High palat... OMIM:617137
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Peptic ulcer, Diarrhea, Pituitary adenoma, Parathyroid carcinoma, Pituitary ... ORPHA:276152
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Vomiting, Gastroesophageal reflux, Esophagitis, Megaloblastic anemia, Feeding difficulties ORPHA:79351
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatosplenomegaly, Hepatic failure, Esophagitis, Feeding difficulties ORPHA:541423
Localized Scleroderma
Gastroesophageal reflux, Fasciitis, Esophagitis, Hashimoto thyroiditis, Arthritis, Uveitis ORPHA:90289
Dermatosparaxis Ehlers-Danlos Syndrome
Hiatus hernia, Esophagitis, Gastroesophageal reflux ORPHA:1901
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
High, narrow palate, Vomiting, Gastroesophageal reflux, Decreased response to growth hormone stim... ORPHA:96182
Pitt-Hopkins Syndrome
Gastroesophageal reflux, Supernumerary nipple, Esophagitis, Cryptorchidism, Hiatus hernia, Agangl... ORPHA:2896
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Esophagitis, Achalasia, Feeding difficulties, Elevated circulating creatine kinase concentration OMIM:615356
Arterial Tortuosity Syndrome
Gastroesophageal reflux, Esophagitis, Median cleft palate, Hiatus hernia, Myocarditis, Pyloric st... ORPHA:3342
9Q33.3Q34.11 Microdeletion Syndrome
Esophagitis, Dysphagia, Cryptorchidism, Constipation ORPHA:495818
Mowat-Wilson Syndrome
Bifid uvula, Submucous cleft of soft and hard palate, Vomiting, Recurrent otitis media, Decreased... ORPHA:2152
Occipital Horn Syndrome
High, narrow palate, Gastroesophageal reflux, Hepatitis, Gastroparesis, Esophagitis, Abnormal eso... ORPHA:198
Sarcoidosis
Hepatic failure, Enlarged lacrimal glands, Decreased liver function, Parotitis, Leukopenia, Enlar... ORPHA:797
Sarcoidosis, Susceptibility To, 2
Splenomegaly, Bronchiectasis, Erythema nodosum, Uveitis OMIM:612387

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 Btnl2

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 Btnl2.

There are 2 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) Btnl2em1(IMPC)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Btnl2em1(IMPC)Wtsi Btnl2em1(IMPC)Wtsi PMC6671969

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
Btnl2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Btnl2tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Btnl2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Btnl2em1(IMPC)Wtsi Deletion Mice

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