Gene Summary

Name:
SID1 transmembrane family, member 1
Synonyms:
B830021E24Rik

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
abnormal liver morphology Sidt1tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal lymph node morphology Sidt1tm1.1(KOMP)Vlcg HOM Early adult 0.00

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Cecum  Section images heterozygote 100% (1 of 1)
Colon  Section images heterozygote 100% (1 of 1)
Epididymis  Section images heterozygote 100% (1 of 1)
Ileum  Section images heterozygote 100% (1 of 1)
Prostate gland  Section images heterozygote 100% (1 of 1)
Vas deferens  Section images heterozygote 100% (1 of 1)
Adrenal gland N/A heterozygote 0.0% (0 of 1)
Aorta N/A heterozygote 0.0% (0 of 1)
Blood N/A heterozygote 0.0% (0 of 1)
Bone marrow N/A heterozygote 0.0% (0 of 1)
Brain N/A heterozygote Not available
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 1)
Cartilage tissue N/A heterozygote Not available
Cerebellum N/A heterozygote 0.0% (0 of 1)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Diaphragm N/A heterozygote 0.0% (0 of 1)
Duodenum N/A heterozygote 0.0% (0 of 1)
Esophagus N/A heterozygote 0.0% (0 of 1)
Eye N/A heterozygote 0.0% (0 of 1)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 1)
Harderian gland N/A heterozygote 0.0% (0 of 1)
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 1)
Kidney N/A heterozygote 0.0% (0 of 1)
Large intestine N/A heterozygote Not available
Liver N/A heterozygote 0.0% (0 of 1)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 1)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote Not available
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 1)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 1)
Midbrain N/A heterozygote 0.0% (0 of 1)
Olfactory lobe N/A heterozygote 0.0% (0 of 1)
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote Not available
Pancreas N/A heterozygote 0.0% (0 of 1)
Parathyroid gland N/A heterozygote Not available
Parotid gland N/A heterozygote 0.0% (0 of 1)
Penis N/A heterozygote 0.0% (0 of 1)
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 1)
Quadriceps N/A heterozygote 0.0% (0 of 1)
Sciatic nerve N/A heterozygote Not available
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 1)
Small intestine N/A heterozygote Not available
Spinal cord N/A heterozygote 0.0% (0 of 1)
Spleen N/A heterozygote 0.0% (0 of 1)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 1)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 1)
Submandibular gland N/A heterozygote 0.0% (0 of 1)
Testis N/A heterozygote 0.0% (0 of 1)
Thymus N/A heterozygote 0.0% (0 of 1)
Thyroid gland N/A heterozygote Not available
Tongue N/A heterozygote 0.0% (0 of 1)
Trachea N/A heterozygote Not available
Trigeminal V nerve N/A heterozygote 0.0% (0 of 1)
Urinary bladder N/A heterozygote 0.0% (0 of 1)
Uterus N/A heterozygote Not available
Vagina N/A heterozygote Not available
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 1)
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 0.7% (4 of 573)
aorta 0.18% (1 of 571)
blood 0.0%
bone marrow 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)
cecum 3.33% (12 of 360)
cerebellum 0.53% (3 of 565)
cerebral cortex 0.35% (2 of 565)
chest bone Unavailable
colon 9.6% (12 of 125)
diaphragm 0.0%
duodenum 1.63% (2 of 123)
epididymis 13.08% (17 of 130)
esophagus 1.8% (7 of 389)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.35% (2 of 566)
hindlimb 0.0%
hippocampus 0.53% (3 of 571)
hypothalamus 0.36% (2 of 560)
ileum 9.68% (12 of 124)
jejunum 4.84% (6 of 124)
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%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 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)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.35% (2 of 574)
peyers patch 0.0%
pituitary gland 0.18% (1 of 570)
prostate gland 1.77% (10 of 564)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 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)
stomach pyloric region 0.0%
striatum 0.53% (3 of 567)
sublingual gland 0.0%
submandibular gland 1.56% (2 of 128)
testis 1.05% (6 of 572)
thymus 0.18% (1 of 567)
thyroid gland 2.84% (16 of 563)
tongue 3.25% (4 of 123)
trachea 0.53% (3 of 562)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 4.03% (15 of 372)
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.

X-ray

XRay Images Hind Leg and Hip

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Adult LacZ

LacZ Images Section

7 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Sidt1 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 Sidt1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Absence of lymph node germinal center OMIM:235550
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Reticuloendotheliosis, X-Linked
Lymphadenopathy, Hepatosplenomegaly, Jaundice OMIM:312500
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Immunodeficiency 75
Lymphadenopathy, Hepatosplenomegaly, Follicular hyperplasia OMIM:619126
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:608971
Mast Cell Sarcoma
Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly ORPHA:66661
Autoinflammation With Episodic Fever And Lymphadenopathy
Lymphadenopathy, Hepatomegaly, Recurrent tonsillitis, Splenomegaly OMIM:618852
Kerion Celsi
Lymphadenopathy ORPHA:499
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:618495
Kimura Disease
Lymphadenopathy, Follicular hyperplasia ORPHA:482
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenopathy, Hepatomegaly, Elevated hepatic transaminase OMIM:615895
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Lymphadenopathy, Extrahepatic cholestasis, Jaundice ORPHA:99978
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Burkitt Lymphoma
Abnormality of the liver, Abnormality of the spleen, Abnormality of the lymph nodes, Abnormality ... ORPHA:543
Immunodeficiency 7
Lymphadenopathy OMIM:615387
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Abnormality of the peritoneum, Splenomegaly ORPHA:545
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Hepatitis, Splenomegaly ORPHA:444463
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Fish-Eye Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
Mu-Heavy Chain Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:100024
Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:98293
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Lymphoproliferative Syndrome 3
Lymphadenopathy, Hepatosplenomegaly OMIM:618261
Hemophagocytic Lymphohistiocytosis, Familial, 4
Lymphadenopathy, Jaundice, Hepatomegaly, Splenomegaly OMIM:603552
Alpha-Heavy Chain Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:100025
Pfapa Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:42642
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the lymphatic system, Abnormality of the lymph nodes, Abnormality of the pancreas,... ORPHA:54251
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Elevated circulating as... OMIM:615559
Immunodeficiency, Common Variable, 2
Lymphadenopathy, Hepatomegaly, Follicular hyperplasia, Splenomegaly OMIM:240500
Immunodeficiency 76
Lymphadenopathy, Splenomegaly OMIM:619164
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Hepatosplenomegaly, Abnormality of the lymph nodes, Splenomegaly OMIM:612840
Immunodeficiency 72 With Autoinflammation
Lymphadenopathy, Hepatosplenomegaly OMIM:618982
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormality of the lymph nodes ORPHA:97290
Immunodeficiency 14A, Autosomal Dominant
Lymphadenopathy, Splenomegaly OMIM:615513
Granulomatous Slack Skin
Abnormality of the lymph nodes ORPHA:33111
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Abnormality of the lymph nodes ORPHA:319487
Pseudomyxoma Peritonei
Lymphadenopathy, Abnormality of the peritoneum ORPHA:26790
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Lymphadenopathy OMIM:619220
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Cold Agglutinin Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:56425
Congenital Toxoplasmosis
Lymphadenopathy, Hepatomegaly, Elevated hepatic transaminase, Jaundice ORPHA:858
Candidiasis, Familial, 2
Lymphadenopathy OMIM:212050
Immunodeficiency 64
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Cervical lymphade... OMIM:618534
Heme Oxygenase 1 Deficiency
Hepatomegaly, Asplenia, Lymphadenopathy, Elevated circulating aspartate aminotransferase concentr... OMIM:614034
Classic Mycosis Fungoides
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:2584
Pleural Mesothelioma
Lymphadenopathy, Hepatomegaly ORPHA:50251
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Hepatosplenomegaly, Splenomegaly OMIM:613101
Schnitzler Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:37748
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy OMIM:618987
Indolent Systemic Mastocytosis
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:98848
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:619375
Rosaï-Dorfman Disease
Lymphadenopathy ORPHA:158014
Immunodeficiency 55
Lymphadenopathy OMIM:617827
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly OMIM:300853
Classic Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Bone marrow hypocellularity, Splenomegaly ORPHA:391
Immunodeficiency, Common Variable, 1
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:607594
Immunodeficiency 52
Lymphadenopathy, Splenomegaly OMIM:617514
Nephroblastoma
Lymphadenopathy, Neoplasm of the liver ORPHA:654
Desmoplastic Small Round Cell Tumor
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Neoplasm of the pancreas, Abnormality... ORPHA:83469
Immunodeficiency 27A
Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, Splenomegaly OMIM:209950
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center OMIM:606843
Systemic-Onset Juvenile Idiopathic Arthritis
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:85414
Immunodeficiency 54
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:609981
Griscelli Syndrome Type 2
Lymphadenopathy, Hepatomegaly, Jaundice, Splenomegaly ORPHA:79477
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Follicular hyperplasia, Splenomegaly OMIM:614470
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy, Neoplasm of the liver ORPHA:424019
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Lymphadenopathy, Fulminant hepatitis, Splenomegaly, Hepatic failure OMIM:308240
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center OMIM:608184
Lymphoproliferative Syndrome 2
Lymphadenopathy, Hepatomegaly, Hepatosplenomegaly, Splenomegaly OMIM:615122
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy OMIM:618048
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, Absence of lymph node germinal center ORPHA:277
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Sclerosing cholangitis, Hepatitis, Splenomegaly, Cirrhosis, Chronic hepatitis, Enla... OMIM:308230
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Pancreatoblastoma
Pancreatic calcification, Abnormality of the lymph nodes, Jaundice ORPHA:677
Familial Pancreatic Carcinoma
Lymphadenopathy, Peritoneal abscess, Pancreatic adenocarcinoma, Neoplasm of the liver, Hepatosple... ORPHA:1333
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Splenomegaly OMIM:611762
Caspase 8 Deficiency
Lymphadenopathy, Splenomegaly OMIM:607271
Omenn Syndrome
Lymphadenopathy, Hepatomegaly, Hypoplasia of the thymus, Splenomegaly OMIM:603554
Rhabdoid Tumor
Lymphadenopathy, Neoplasm of the liver ORPHA:69077
Proteasome-Associated Autoinflammatory Syndrome 4
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:619183
Leishmaniasis
Lymphadenopathy, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly ORPHA:507
Medullary Thyroid Carcinoma
Lymphadenopathy, Abnormal liver parenchyma morphology ORPHA:1332
Griscelli Syndrome
Hepatomegaly, Lymphadenopathy, Hepatitis, Bone marrow hypocellularity, Splenomegaly, Jaundice ORPHA:381
Macrophage Activation Syndrome
Hepatomegaly, Lymphadenopathy, Hepatitis, Splenomegaly, Decreased liver function, Elevated circul... ORPHA:158061
Gallbladder Neuroendocrine Tumor
Biliary tract obstruction, Biliary tract neoplasm, Chronic noninfectious lymphadenopathy, Extrahe... ORPHA:100086
Kaposi Sarcoma
Abnormality of the liver, Abnormality of the spleen, Generalized lymphadenopathy ORPHA:33276
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Splenomegaly OMIM:601859
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Lymphadenopathy, Splenomegaly OMIM:150550
Tularemia
Lymphadenopathy, Abnormal nasopharyngeal adenoid morphology, Mediastinal lymphadenopathy, Cervica... ORPHA:3392
Roifman Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:616651
Deafness-Lymphedema-Leukemia Syndrome
Lymphadenopathy, Hepatomegaly, Bone marrow hypocellularity, Splenomegaly ORPHA:3226
Diffuse Cutaneous Mastocytosis
Lymphadenopathy, Abnormality of the spleen, Hepatomegaly, Abnormality of the liver ORPHA:79456
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Lymphadenopathy, Hepatosplenomegaly, Acute hepatic failure, Elevated hepatic transa... OMIM:619644
Sézary Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:3162
Niemann-Pick Disease, Type A
Hepatomegaly, Lymphadenopathy, Splenomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:257200
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenopathy, Lymphadenitis, Splenomegaly, Hepatosplenomegaly, Acute pancreatitis, Recurrent t... OMIM:618935
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Lymphadenopathy, Splenomegaly, Chronic noninfectious lymphadenopathy, Follicular hy... OMIM:603909
Cinca Syndrome
Lymphadenopathy, Hepatosplenomegaly OMIM:607115
Primary Myelofibrosis
Hepatomegaly, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Portal hypertension ORPHA:824
Boutonneuse Fever
Lymphadenopathy, Cervical lymphadenopathy, Elevated hepatic transaminase ORPHA:83313
Adult-Onset Still Disease
Hepatomegaly, Hepatitis, Bone marrow hypocellularity, Splenomegaly, Generalized lymphadenopathy, ... ORPHA:829
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:616100
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenopathy, Lymphadenitis, Hepatosplenomegaly, Abnormality of the lymph nodes ORPHA:911
American Trypanosomiasis
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:3386
Roifman Syndrome
Lymphadenopathy, Hepatosplenomegaly ORPHA:353298
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased liver function, Cholestatic liver disease,... ORPHA:540
Immunodeficiency 10
Lymphadenopathy OMIM:612783
Cyclic Neutropenia
Lymphadenopathy, Cervical lymphadenopathy, Peritonitis, Recurrent tonsillitis ORPHA:2686
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Microvesicular hepatic steatosis, Hepatomegaly, Macronodular cirrhosis, Lymphadenopathy, Splenome... OMIM:619418
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Biliary tract obstruction, Hepatic cysts, Neoplasm of the liver, Intrahepatic chole... ORPHA:100085
Hyperimmunoglobulinemia D With Periodic Fever
Lymphadenopathy, Hepatomegaly, Peritonitis ORPHA:343
Combined Immunodeficiency Due To Crac Channel Dysfunction
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:169090
Aggressive Systemic Mastocytosis
Lymphadenopathy, Decreased liver function, Hepatosplenomegaly, Hypersplenism, Portal hypertension ORPHA:98850
Periodic Fever, Familial, Autosomal Dominant
Cervical lymphadenopathy, Hepatomegaly, Hepatic amyloidosis OMIM:142680
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Liver abscess OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Liver abscess OMIM:233710
Omenn Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:39041
Gamma-Heavy Chain Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:100026
Legionnaires Disease
Lymphadenopathy, Hepatitis, Bone marrow hypocellularity, Pancreatitis, Splenomegaly, Jaundice ORPHA:549
Hereditary Amyloidosis With Primary Renal Involvement
Hepatomegaly, Lymphadenopathy, Abnormality of the lymph nodes, Decreased liver function, Hepatosp... ORPHA:85450
Lymphoproliferative Syndrome 1
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:613011
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Felty Syndrome
Lymphadenopathy, Hepatomegaly, Bone marrow hypocellularity, Splenomegaly ORPHA:47612
Cinca Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:1451
Castleman Disease
Mediastinal lymphadenopathy, Follicular hyperplasia, Lymphadenopathy, Generalized lymphadenopathy... ORPHA:160
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Liver abscess OMIM:233690
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Liver abscess OMIM:306400
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Lymphadenopathy ORPHA:69126
Thymic Neuroendocrine Tumor
Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy, Mediastinal lymphadenopathy... ORPHA:97289
Thyroid Lymphoma
Lymphadenopathy ORPHA:97285
Scrub Typhus
Lymphadenopathy, Splenomegaly ORPHA:83317
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Hepatosplenomegaly, Elevated hepatic transaminase, Portal hypertension, Chronic hep... ORPHA:79124
Hypocomplementemic Urticarial Vasculitis
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:36412
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphadenopathy, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly OMIM:617591
Mixed Connective Tissue Disease
Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly ORPHA:809
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Elevated hepatic transaminase, J... OMIM:603553
Q Fever
Hepatomegaly, Lymphadenopathy, Hepatitis, Splenomegaly, Abnormality of the liver, Hepatosplenomeg... ORPHA:781
Lig4 Syndrome
Lymphadenopathy, Hepatomegaly ORPHA:99812
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphadenopathy, Acute hepatic failure, Hepatitis, Elevated hepatic transaminase ORPHA:139402
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Mevalonic Aciduria
Fluctuating splenomegaly, Lymphadenopathy, Fluctuating hepatomegaly, Hepatosplenomegaly, Elevated... OMIM:610377
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Lymphadenopathy, Hepatitis OMIM:304790
Graft Versus Host Disease
Lymphadenopathy, Acute hepatitis, Hepatosplenomegaly, Elevated hepatic transaminase, Chronic hepa... ORPHA:39812
Neuroendocrine Tumor Of The Colon
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy ORPHA:100080
Common Variable Immunodeficiency
Lymphadenopathy, Elevated hepatic transaminase, Abnormality of the liver, Splenomegaly ORPHA:1572
Hemophagocytic Lymphohistiocytosis, Familial, 1
Lymphadenopathy, Jaundice, Hepatomegaly, Splenomegaly OMIM:267700
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphadenopathy OMIM:617718
Anaplastic Thyroid Carcinoma
Lymphadenopathy ORPHA:142
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphadenopathy, Hepatosplenomegaly ORPHA:169154
Farber Disease
Hepatic fibrosis, Lymphadenopathy, Intrahepatic cholestasis with episodic jaundice, Hepatosplenom... ORPHA:333
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Hepatosplenomegaly, Enlarged tonsils OMIM:606367
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Chediak-Higashi Syndrome
Lymphadenopathy, Jaundice, Hepatomegaly, Splenomegaly OMIM:214500
Immunodeficiency, Common Variable, 8, With Autoimmunity
Lymphadenopathy, Generalized lymphadenopathy, Splenomegaly OMIM:614700
Kikuchi-Fujimoto Disease
Hepatomegaly, Elevated hepatic transaminase, Lymphadenopathy, Abnormality of the lymph nodes, Spl... ORPHA:50918
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Pancreatic hypoplasia, Lymphadenopathy, Retroperitoneal fibrosis, Splenomegaly, Hep... OMIM:602782
Neuroendocrine Tumor Of The Rectum
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy ORPHA:100082
Hyper-Igd Syndrome
Lymphadenopathy, Lymphadenitis, Hepatosplenomegaly, Splenomegaly OMIM:260920
Adenocarcinoma Of The Anal Canal
Lymphadenopathy, Neoplasm of the liver ORPHA:424016
X-Linked Lymphoproliferative Disease
Elevated hepatic transaminase, Lymphadenopathy, Hepatic necrosis, Bone marrow hypocellularity, Fu... ORPHA:2442
Waldenström Macroglobulinemia
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:33226
Duodenal Neuroendocrine Tumor
Lymphadenopathy, Insulinoma, Intrahepatic cholestasis with episodic jaundice, Extrahepatic choles... ORPHA:100076
Ileal Neuroendocrine Tumor
Lymphadenopathy, Extrahepatic cholestasis, Hepatic failure, Elevated hepatic transaminase ORPHA:100078
Jejunal Neuroendocrine Tumor
Lymphadenopathy, Extrahepatic cholestasis, Hepatic failure, Elevated hepatic transaminase ORPHA:100077
Systemic Mastocytosis With Associated Hematologic Neoplasm
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:98849
Acute Interstitial Pneumonia
Lymphadenopathy ORPHA:79126
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Hepatosplenomegaly, Ele... OMIM:615688
Pulmonary Capillary Hemangiomatosis
Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:199241
Aregenerative Anemia
Lymphadenopathy, Bone marrow hypocellularity ORPHA:101096
Thymic Aplasia
Lymphadenopathy, Aplasia of the thymus, Atypical or prolonged hepatitis ORPHA:83471
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Hepatocellular carcinoma, Lymphadenopathy, Hepatitis, Bone marrow hypocellularity, ... ORPHA:3261
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy ORPHA:93552
Lymphatic Filariasis
Lymphadenopathy, Lymphadenitis, Lymphangiectasis, Abnormality of the lymphatic system ORPHA:2035
Malt Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:52417
Carney Triad
Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:139411
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy OMIM:617099
Chédiak-Higashi Syndrome
Lymphadenopathy, Splenomegaly, Decreased liver function, Hepatosplenomegaly, Elevated hepatic tra... ORPHA:167
Acute Promyelocytic Leukemia
Lymphadenopathy ORPHA:520
H Syndrome
Lymphadenopathy, Hepatosplenomegaly ORPHA:168569
Coccidioidomycosis
Abnormality of the spleen, Mediastinal lymphadenopathy, Peritonitis, Lymphadenopathy, Pancreatiti... ORPHA:228123
Familial Mediterranean Fever
Peritonitis, Lymphadenopathy, Pancreatitis, Splenomegaly, Acute hepatic failure ORPHA:342
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Lymphadenopathy, Hepatitis, Elevated hepatic transaminase, Splenomegaly ORPHA:37042
Igg4-Related Submandibular Gland Disease
Lymphadenopathy, Cholangitis, Retroperitoneal fibrosis, Abnormal pancreas morphology ORPHA:449432
Igg4-Related Kidney Disease
Abnormality of mesentery morphology, Lymphadenopathy, Lymphadenitis, Retroperitoneal fibrosis, Pa... ORPHA:449395
Poems Syndrome
Lymphadenopathy ORPHA:2905
Tangier Disease
Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Orange discolored tonsils ORPHA:31150
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Lymphadenopathy, Hepatosplenomegaly ORPHA:85408
Selective Igm Deficiency
Lymphadenopathy, Lymphadenitis ORPHA:331235
Multiple Myeloma
Lymphadenopathy, Splenomegaly ORPHA:29073
Brucellosis
Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormality of the liver, Hypersplenism, Liver abscess ORPHA:1304
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphadenopathy OMIM:607944
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Lymphadenopathy, Peritonitis, Splenomegaly ORPHA:32960
Hennekam Syndrome
Lymphadenopathy, Lymphangioma, Pulmonary lymphangiectasia, Splenomegaly ORPHA:2136
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent peripheral lymph nodes in presence of infection OMIM:600802
Sarcoidosis
Hepatomegaly, Lymphadenopathy, Abnormality of the lymph nodes, Abnormal liver parenchyma morpholo... ORPHA:797
Lymphangioleiomyomatosis
Lymphadenopathy, Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system ORPHA:538
Crimean-Congo Hemorrhagic Fever
Hepatomegaly, Lymphadenopathy, Splenomegaly, Hemoperitoneum, Acute pancreatitis, Hepatic failure,... ORPHA:99827
Autosomal Recessive Malignant Osteopetrosis
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:667
Igg4-Related Ophthalmic Disease
Lymphadenopathy, Cholangitis, Retroperitoneal fibrosis, Pancreatitis ORPHA:449563
Leptospirosis
Hepatomegaly, Elevated serum transaminases during infections, Lymphadenopathy, Hepatitis, Jaundice ORPHA:509
Primary Sjögren Syndrome
Lymphadenopathy, Chronic hepatitis, Biliary cirrhosis, Chronic active hepatitis ORPHA:289390
Proteasome-Associated Autoinflammatory Syndrome 1
Lymphadenopathy, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly OMIM:256040
Chikungunya
Lymphadenopathy, Cervical lymphadenopathy ORPHA:324625
Behçet Disease
Lymphadenopathy, Pancreatitis, Splenomegaly ORPHA:117
Marburg Hemorrhagic Fever
Lymphadenopathy, Pancreatitis, Elevated hepatic transaminase, Jaundice ORPHA:99826
Blau Syndrome
Lymphadenopathy, Abnormality of the liver, Splenomegaly ORPHA:90340
Igg4-Related Dacryoadenitis And Sialadenitis
Lymphadenopathy, Retroperitoneal fibrosis ORPHA:79078
African Trypanosomiasis
Hepatomegaly, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Jaundice ORPHA:3385
Immunodeficiency 82 With Systemic Inflammation
Lymphadenopathy, Hepatitis, Follicular hyperplasia, Splenomegaly OMIM:619381
Cushing Syndrome Due To Ectopic Acth Secretion
Pancreatoblastoma, Pancreatic adenocarcinoma, Abnormality of the lymph nodes, Neoplasm of the thymus ORPHA:99889

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 Sidt1

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 Sidt1.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
SIDT1 plays a key role in type I IFN responses to nucleic acids in plasmacytoid dendritic cells and mediates the pathogenesis of an imiquimod-induced psoriasis model. EBioMedicine (January 2022) Sidt1tm1(KOMP)Vlcg PMC8784643
SIDT1-dependent absorption in the stomach mediates host uptake of dietary and orally administered microRNAs. Cell research (August 2020) Sidt1tm1(KOMP)Vlcg PMC8026584
SIDT1 Localizes to Endolysosomes and Mediates Double-Stranded RNA Transport into the Cytoplasm. Journal of immunology (Baltimore, Md. : 1950) (May 2019) Sidt1tm1(KOMP)Vlcg 31061008

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MGI Allele Allele Type Produced
Sidt1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Sidt1tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue
Sidt1tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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