Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
sorbin and SH3 domain containing 1
Synonyms:
2310065E01Rik,  c-Cbl-associated protein,  CAP,  Ponsin,  9530001P15Rik,  Sh3d5

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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 Sorbs1 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 Sorbs1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 21
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... OMIM:614172
Neutropenia, Severe Congenital, X-Linked
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Immunodeficiency 40
Lymphopenia OMIM:616433
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Immunodeficiency 97 With Autoinflammation
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly... OMIM:619802
Immunodeficiency 18
Lymphopenia, Decreased proportion of CD3-positive T cells OMIM:615615
Immunodeficiency 8
Lymphopenia OMIM:615401
Adult Idiopathic Neutropenia
Monocytopenia, Monocytosis, Lymphopenia, Neutropenia ORPHA:2688
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Neutropenia, Lymphopenia, Cellulitis, Abnormally low T cell receptor excision circle level, Hepat... OMIM:618986
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus, Increased adipose tissue ORPHA:71529
Plin1-Related Familial Partial Lipodystrophy
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Lipoatrophy, Loss of gluteal subcutaneous ... ORPHA:280356
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... ORPHA:263458
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Diabetes m... OMIM:610947
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyper... ORPHA:79299
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Lymphopenia,... OMIM:615897
Insulinomatosis And Diabetes Mellitus
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... OMIM:147630
Immunodeficiency 19
Lymphopenia OMIM:615617
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:256450
Lipodystrophy, Familial Partial, Type 3
Reduced subcutaneous adipose tissue, Type II diabetes mellitus, Hyperinsulinemia, Loss of gluteal... OMIM:604367
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... OMIM:202700
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Lipoatrophy, Diabetes mellitus ORPHA:79084
Transient Neonatal Diabetes Mellitus
Hypoinsulinemia, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Maternal diabetes, ... ORPHA:99886
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Hypoplasia of the ovary, Decreased serum testosterone concentration, Hypergonad... ORPHA:66628
Immunodeficiency 31C
Lymphopenia, Hypothyroidism, Delayed puberty, Diabetes mellitus, Autoimmune hemolytic anemia OMIM:614162
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:179494
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Hemolytic anemia, Pancytop... OMIM:614470
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia, Hyperinsulinemia, Increased serum leptin, Hypertriglyceridemia, Insulin resistance OMIM:617885
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Refractory anemia, Leukopenia, Monocytosis, Acute myeloid leukemia OMIM:616871
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Glucose intolerance, Hypopituitarism OMIM:144600
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia OMIM:307500
Hypertriglyceridemia 1
Hypertriglyceridemia, Glucose intolerance, Hypopituitarism OMIM:145750
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis OMIM:267500
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Maturity-onset diabetes of the young, Ketotic hy... ORPHA:324575
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Neutropenia OMIM:614868
Obesity Due To Prohormone Convertase I Deficiency
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Central adrenal insuffic... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Central adrenal insuffic... ORPHA:71526
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Delayed puberty, Delayed thelarche, Dorsocervical fat pad, Diabete... OMIM:616033
Mandibuloacral Dysplasia
Glucose intolerance, Increased adipose tissue around the neck, Hyperinsulinemia, Lipoatrophy, Inc... ORPHA:2457
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hyp... ORPHA:276580
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Lymphopenia OMIM:247630
Estrogen Resistance
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance OMIM:615363
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:606762
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia ORPHA:169079
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis OMIM:247800
Lipodystrophy, Familial Partial, Type 2
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Type II diabetes m... OMIM:151660
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... ORPHA:276608
Immunodeficiency 105
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf... OMIM:619924
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia ORPHA:35878
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hyp... ORPHA:276575
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Autoimmune hemolytic an... ORPHA:444463
X-Linked Sideroblastic Anemia
Glucose intolerance, Anemia, Splenomegaly ORPHA:75563
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Gen... ORPHA:363400
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Spherocytosis, Splenomegaly ORPHA:66518
Autosomal Dominant Severe Congenital Neutropenia
Lymphopenia, Cellulitis, Eosinophilia, Monocytosis, Aplastic anemia, Acute lymphoblastic leukemia... ORPHA:486
Mody
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal circulating insulin... ORPHA:552
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia ORPHA:369873
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... OMIM:617514
Immunodeficiency 76
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Splenomegaly OMIM:619164
Immunodeficiency 95
Lymphopenia OMIM:619773
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Diabetic ketoacidosis, Hypoglyc... OMIM:262190
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperlipidemia, Hyperinsulinemia, Flexion contracture, Loss of truncal subcu... OMIM:608612
Ataxia-Telangiectasia
Type II diabetes mellitus, Lymphopenia, Delayed puberty, Diabetes mellitus, Aplasia/Hypoplasia of... ORPHA:100
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Immunodeficiency 13
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Retinitis Pigmentosa
Atypical scarring of skin, Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism ORPHA:791
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Congenital Generalized Lipodystrophy
Precocious puberty in females, Hyperinsulinemia, Hypertriglyceridemia, Lipodystrophy, Adipose tis... ORPHA:528
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Glucose intolerance, Increased serum testosterone level, Hyperinsulin... ORPHA:2298
Nephrotic Syndrome, Type 14
Adrenal insufficiency, Lymphopenia, Hypoglycemia, Hypertriglyceridemia, Hypothyroidism, Hypogonadism OMIM:617575
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... ORPHA:79644
Transcobalamin Deficiency
Pancytopenia, Thrombocytopenia, Lymphopenia, Neutropenia ORPHA:859
Polyendocrine-Polyneuropathy Syndrome
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad... ORPHA:453533
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:619326
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Hyp... ORPHA:1227
Insulinoma
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... ORPHA:97279
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Hypergonadotropic hypogonadism, Hyperinsulinemia, Type II diabetes mellitus ORPHA:3085
Hyperinsulinism Due To Ucp2 Deficiency
Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hypoketotic hypoglyce... ORPHA:276556
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of class-switched memory B cells, Lymphopenia, Autoimmune thrombocytopenia, ... OMIM:619846
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Monocytosis, Thrombocytopenia OMIM:619644
Mandibuloacral Dysplasia With Type A Lipodystrophy
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperlipidemia, Hy... OMIM:248370
Galactokinase Deficiency
Hyperinsulinemia, Hypergonadotropic hypogonadism, Hepatosplenomegaly, Hypoglycemia, Hypercholeste... ORPHA:79237
Hemochromatosis, Type 3
Hypogonadotropic hypogonadism, Anemia, Lymphopenia, Neutropenia OMIM:604250
Holoprosencephaly, Recurrent Infections, And Monocytosis
Monocytosis OMIM:610680
Systemic Lupus Erythematosus 17
Leukopenia, Thrombocytopenia, Lymphopenia, Autoimmune thrombocytopenia OMIM:301080
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia ORPHA:277
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... OMIM:617780
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, T lymp... ORPHA:169154
Perlman Syndrome
Femoral hernia, Hyperinsulinemia, Inguinal hernia ORPHA:2849
Immunodeficiency 44
Lymphopenia OMIM:616636
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Generalized lipodystrophy, Hypertriglyceridemia, Insulin-resistant diabetes mel... ORPHA:79086
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Hypothyroidism, Neut... OMIM:618849
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Inguinal hernia, Splenomegaly, Hypoplasia of the thymus, Monocytosis, Hepatosplenome... OMIM:612541
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Spl... OMIM:608594
Noonan Syndrome 12
Thrombocytopenia, Lymphopenia, Decreased response to growth hormone stimulation test OMIM:618624
Estrogen Resistance Syndrome
Glucose intolerance, Hyperinsulinemia, Absence of pubertal development, Absence of secondary sex ... ORPHA:785
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Flexion contracture, Splenomegaly, Hypertriglyceridemia, Lipodystrophy, Anemia, Thro... OMIM:617591
Donohue Syndrome
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Pancreatic islet-cell hyperplas... OMIM:246200
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Thrombocytopenia, Lymphopenia OMIM:616744
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Typ... OMIM:269700
Immunodeficiency 85 And Autoimmunity
Lymphopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Reduced natu... OMIM:619510
Hyperinsulinism Due To Hnf4A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Glycosuria, Neonatal h... ORPHA:263455
Multiple Endocrine Neoplasia Type 4
Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, A... ORPHA:276152
Immunodeficiency 36
Lymphopenia, Splenomegaly, B lymphocytopenia, Chronic lymphatic leukemia, Decreased proportion of... OMIM:616005
Lymphangiectasia, Intestinal
Lymphopenia OMIM:152800
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Flexion contracture, Splenomegaly, Hypertriglyceridemia, Lipodystrophy, Insulin... OMIM:613327
Sneddon Syndrome
Lymphopenia, Atrophic scars OMIM:182410
Immunodeficiency 49
Eosinophilia, Lymphopenia, Umbilical hernia OMIM:617237
Mirage Syndrome
Adrenal insufficiency, Lymphopenia, Hypergonadotropic hypogonadism, Leukopenia, Hypoglycemia, Hyp... OMIM:617053
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphopenia, Eosinophilia, Hepatosplenomegaly, Abnormal B cell count, Abno... ORPHA:331206
T-Cell Immunodeficiency With Thymic Aplasia
Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision circle level, Hepatos... OMIM:242700
Ataxia-Telangiectasia
Glucose intolerance, Lymphopenia, Hypoplasia of the thymus, T lymphocytopenia, Acute lymphoblasti... OMIM:208900
X-Linked Acrogigantism
Increased circulating insulin-like growth factor 1 concentration, Decreased thyroid-stimulating h... ORPHA:300373
Cyclic Neutropenia
Lymphopenia, Cellulitis, Cyclic neutropenia, Perianal abscess, Tooth abscess, Thrombocytopenia, D... ORPHA:2686
Macrocephaly/Autism Syndrome
Lymphopenia, Splenomegaly OMIM:605309
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia OMIM:619767
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Cutaneous abscess, Neutropenia, Reduced natural killer cell count, Lymphopenia OMIM:619752
Short Stature, Microcephaly, And Endocrine Dysfunction
Lymphopenia, Inguinal hernia, Hypothyroidism, Diabetes mellitus, Insulin resistance, Anemia OMIM:616541
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia OMIM:207731
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Reduced subcutaneous adipose tissue, Increased serum testosterone lev... ORPHA:769
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Lymphopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Leukopenia, Thrombocytosis, Type I d... OMIM:615688
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Anemia, Hyperinsulinemia, Insulin resistance ORPHA:230
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia ORPHA:1116
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Lymphopenia, Abnormally low T cell receptor excision circl... ORPHA:276
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Eosinophilia, Lymphopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly ORPHA:169160
Pgm3-Cdg
Cutaneous abscess, Abnormal proportion of CD8-positive T cells, Lymphopenia, Neutropenia in prese... ORPHA:443811
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Leukopenia, B lymphocytopenia, Neutropenia, Anemia, Thrombocytopenia, Reticulocytope... ORPHA:508542
Alstrom Syndrome
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Hypergonadotropic hypogo... OMIM:203800
Purine Nucleoside Phosphorylase Deficiency
Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal T cell morphology... ORPHA:760
Cushing Disease
Paradoxical increased cortisol secretion on dexamethasone suppression test, Lymphopenia, Leukocyt... ORPHA:96253
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Lymphopenia, Leukocytosis, Hypoplasia of the thymus, Enamel hypoplasia, Thrombocytosis, Impaired ... OMIM:243150
Icf Syndrome
Abnormality of neutrophils, Anemia, Lymphopenia, Umbilical hernia ORPHA:2268
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphopenia, Splenomegaly, Hepatosplenomegaly, Abscess, Hemolytic anemia, Perianal abscess, Granu... OMIM:618935
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Abnormality of the endocrine system, Neutropenia in presence of anti-neutropil antibodies, Lympho... ORPHA:391487
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Aplasia of the thymus, Splenomegaly, Abnormally low T cell receptor excision circle ... OMIM:602450
Autoimmune Lymphoproliferative Syndrome
Thyroiditis, Abnormal proportion of CD8-positive T cells, Lymphopenia, Coombs-positive hemolytic ... ORPHA:3261
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoglycemia, Recurrent hypoglycemia, Hypoinsulinemia ORPHA:2126
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent natural killer cells, Impaired lymphocyte transformation with phytohemagglutinin, Lymphope... OMIM:600802
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Lymphopenia, Autoimmune thrombocytopenia, Splenomegaly OMIM:616100
Cowden Syndrome 1
Lymphopenia, Hyperthyroidism, Hypothyroidism, Subcutaneous lipoma, Goiter, Thyroid adenoma, Thyro... OMIM:158350
Fusariosis
Lymphopenia, Cellulitis, Abnormality of the spleen, Brain abscess, Fasciitis, Neutropenia, Granul... ORPHA:228119
Woodhouse-Sakati Syndrome
Hyperlipidemia, Hyperinsulinemia, Decreased serum testosterone concentration, Decreased response ... ORPHA:3464
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf... ORPHA:35078
Cushing Syndrome Due To Ectopic Acth Secretion
Medullary thyroid carcinoma, Neuroendocrine neoplasm, Neoplasm of the thymus, Small intestine car... ORPHA:99889
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegaly, Autoimmune throm... OMIM:613179
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Lymphopenia, Splenomegaly, Aplasia of the thymus, Severe B lymphocytopenia, Eosinophilia, Autoimm... OMIM:102700
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Immunodeficiency 55
Neutropenia, Lymphopenia, Absent natural killer cells OMIM:617827
Leprechaunism
Postprandial hyperglycemia, Reduced subcutaneous adipose tissue, Hyperinsulinemia, Insulin resist... ORPHA:508
Ebola Hemorrhagic Fever
Leukopenia, Thrombocytopenia, Lymphopenia ORPHA:319218
Atypical Werner Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Lipoatrophy, Chondrocalcinosis, Glycosuria, Generali... ORPHA:79474
Dyskeratosis Congenita, Autosomal Dominant 1
Anemia, Thrombocytopenia, Aplastic anemia, Lymphopenia OMIM:127550
Prader-Willi Syndrome
Adrenal insufficiency, Hyperinsulinemia, Precocious puberty, Type II diabetes mellitus, Decreased... OMIM:176270
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Anemia, Lymphopenia, Inguinal hernia ORPHA:935
Wiskott-Aldrich Syndrome
Lymphopenia, Abnormal eosinophil morphology, Hypoplasia of the thymus, Hemolytic anemia, Microcyt... ORPHA:906
Wiskott-Aldrich Syndrome
Lymphopenia, Eosinophilia, Absent microvilli on the surface of peripheral blood lymphocytes, Decr... OMIM:301000
Whim Syndrome
Cellulitis, Lymphopenia, Abnormality of neutrophil morphology, Neutropenia ORPHA:51636
Wiskott-Aldrich Syndrome, Autosomal Dominant
Lymphopenia, Absent microvilli on the surface of peripheral blood lymphocytes, Decreased mean pla... OMIM:600903
Common Variable Immunodeficiency
Hemolytic anemia, Lymphopenia, Autoimmune thrombocytopenia, Splenomegaly ORPHA:1572
Steinert Myotonic Dystrophy
Secondary hyperparathyroidism, Testicular atrophy, Hyperinsulinemia, Decreased serum testosterone... ORPHA:273
Turner Syndrome Due To Structural X Chromosome Anomalies
Glucose intolerance, Hyperinsulinemia, Hyperlipidemia, Type II diabetes mellitus, High urinary go... ORPHA:99413
Turner Syndrome
Glucose intolerance, Hyperinsulinemia, Hyperlipidemia, Type II diabetes mellitus, High urinary go... ORPHA:881
Mosaic Monosomy X
Glucose intolerance, Hyperinsulinemia, Hyperlipidemia, Type II diabetes mellitus, High urinary go... ORPHA:99228
Monosomy X
Glucose intolerance, Hyperinsulinemia, Hyperlipidemia, Type II diabetes mellitus, High urinary go... ORPHA:99226
Pmm2-Cdg
Multiple joint contractures, Hyperinsulinemia, Elevated circulating growth hormone concentration,... ORPHA:79318
Alström Syndrome
Precocious puberty in females, Hyperinsulinemia, Type II diabetes mellitus, Hyperlipidemia, Decre... ORPHA:64

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 Sorbs1

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 Sorbs1.

No publications found that use IMPC mice or data for Sorbs1.

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MGI Allele Allele Type Produced
Sorbs1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Sorbs1tm119390(pL1L2_GT1_DelLacZ_bsd) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Sorbs1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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