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
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... OMIM:619802
Immunodeficiency 11A
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Adult Idiopathic Neutropenia
Monocytopenia, Lymphopenia, Neutropenia, Monocytosis ORPHA:2688
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Cellulitis, Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly... OMIM:618986
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Immunodeficiency 32B
Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocytopenia, Neutrophil... OMIM:226990
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Immunodeficiency 24
Lymphopenia, Decreased proportion of memory B cells, Reduced proportion of mucosal-associated inv... OMIM:615897
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Reduced subcutaneous adipose tissue, Loss of gluteal subcutaneous adipose tissu... ORPHA:280356
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Increased adipose tissue, Hypertriglyceridemia ORPHA:71529
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Type II diabetes mellitus, Impaired glucose tolerance, Hypertriglyceridemia OMIM:610947
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Lymphocytosis, Neutropenia, Monocytosis, Leukemia, Autoimmune thrombo... OMIM:614470
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Acute myeloid leukemia, Refractory anemia, Monocytosis OMIM:616871
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism OMIM:307500
Reticular Dysgenesis
Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus OMIM:267500
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance, Hypertriglyceridemia OMIM:145750
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Lipoatrophy, Diabetes mellitus ORPHA:79084
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Immunodeficiency 15B
Reduced natural killer cell count, Monocytosis OMIM:615592
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Immunodeficiency 8 With Lymphoproliferation
Lymphopenia OMIM:615401
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... OMIM:615615
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... OMIM:617514
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis OMIM:619281
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis OMIM:247800
Immunodeficiency 105
Reduced natural killer cell count, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired lympho... OMIM:619924
X-Linked Sideroblastic Anemia
Anemia, Glucose intolerance, Splenomegaly ORPHA:75563
Autosomal Dominant Severe Congenital Neutropenia
Cellulitis, Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Mono... ORPHA:486
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Hemolytic an... ORPHA:444463
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Increased serum leptin, Hyperinsulinemia, Hyperlipidemia, Hypertriglyceridemia OMIM:617885
Mandibuloacral Dysplasia
Insulin resistance, Increased circulating free fatty acid level, Increased subcutaneous truncal a... ORPHA:2457
Cernunnos-Xlf Deficiency
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia ORPHA:169079
Immunodeficiency 76
Lymphopenia, T lymphocytopenia, Splenomegaly, B lymphocytopenia OMIM:619164
Immunodeficiency 95
Lymphopenia OMIM:619773
Lipodystrophy, Familial Partial, Type 2
Increased adipose tissue around the neck, Increased facial adipose tissue, Insulin-resistant diab... OMIM:151660
Ataxia-Telangiectasia
Aplasia/Hypoplasia of the thymus, Lymphopenia, Type II diabetes mellitus, Delayed puberty, Diabet... ORPHA:100
Immunodeficiency 13
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... OMIM:615518
Mody
Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Glycosuria, Insulin-... ORPHA:552
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia ORPHA:859
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Anemia, Lymphopenia, Type I diabetes mellitus, Thrombocytopenia OMIM:620365
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Spherocytosis, Splenomegaly ORPHA:66518
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Autoimmune thrombocytopenia, D... OMIM:619846
Systemic Lupus Erythematosus 17
Lymphopenia, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia OMIM:301080
Proprotein Convertase 1/3 Deficiency
Elevated circulating proinsulin concentration, Reactive hypoglycemia, Decreased circulating corti... OMIM:600955
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Thrombocytopenia, Monocytosis OMIM:619644
Reni Syndrome
Hypoglycemia, Hypogonadism, Lymphopenia, Adrenal insufficiency, Hypothyroidism, Hypertriglyceridemia OMIM:617575
Hemochromatosis, Type 3
Anemia, Lymphopenia, Hypogonadotropic hypogonadism, Neutropenia OMIM:604250
Estrogen Resistance
Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Increased circulating osteocalc... OMIM:615363
Immunodeficiency 44
Lymphopenia OMIM:616636
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... ORPHA:169154
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i... OMIM:617780
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Hypothyroidism, Neut... OMIM:618849
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Insulin resistance, Glycosuria, Insulin-resistant diabetes mellitus, ... ORPHA:2298
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatosplenomegaly, Leukopenia, Inguinal hernia, Splenomegaly, Erythroid hypoplasia,... OMIM:612541
Immunodeficiency 114, Folate-Responsive
Lymphopenia, Splenomegaly, Megaloblastic anemia, Thrombocytopenia, Hypertriglyceridemia OMIM:620603
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, T lymphocytopenia, B lymphocytopenia ORPHA:277
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lymphopenia, Hemolytic anemia, Thrombocytopenia OMIM:616744
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Splenomegaly, Lipodystrophy, Thrombocytopenia, Hypertriglyceridemia, Anemia, Flexion... OMIM:617591
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Immunodeficiency 49
Abnormally low T cell receptor excision circle level, Umbilical hernia, Lymphopenia, Eosinophilia... OMIM:617237
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Lymphopenia, Decreased... OMIM:619510
Disabling Pansclerotic Morphea Of Childhood
Lymphopenia, Neutropenia, Joint contracture OMIM:620443
Lymphangiectasia, Intestinal
Lymphopenia OMIM:152800
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel... OMIM:616005
Mirage Syndrome
Hypoglycemia, Lymphopenia, Leukopenia, Adrenal insufficiency, Adrenal hypoplasia, Thrombocytopeni... OMIM:617053
Ataxia-Telangiectasia
Lymphopenia, Glucose intolerance, Decreased proportion of CD4-positive helper T cells, Abnormal B... OMIM:208900
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Aplasia of... OMIM:242700
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce... ORPHA:331206
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia OMIM:619767
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia OMIM:207731
Cyclic Neutropenia
Cellulitis, Lymphopenia, Cyclic neutropenia, Perianal abscess, Tooth abscess, Thrombocytopenia, D... ORPHA:2686
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Neutrophilia, Leukocytosis, Autoimmune hemolytic anemia, Splenomegaly, Monocytosis, Autoimmune th... OMIM:620565
Short Stature, Microcephaly, And Endocrine Dysfunction
Insulin resistance, Lymphopenia, Inguinal hernia, Hypothyroidism, Anemia, Diabetes mellitus OMIM:616541
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphope... ORPHA:276
Pgm3-Cdg
Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous abscess, Lymphopenia, Leukop... ORPHA:443811
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Type I diabetes mellitus, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Leukopenia, Leukocytosis... OMIM:615688
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutropenia, Thrombocytopenia, Ane... ORPHA:508542
Cushing Disease
Increased circulating cortisol level, Increased urinary cortisol level, Lymphopenia, Increased ci... ORPHA:96253
Purine Nucleoside Phosphorylase Deficiency
Lymphopenia, Autoimmune hemolytic anemia, Abnormal T cell morphology, Decreased proportion of CD3... ORPHA:760
Icf Syndrome
Anemia, Lymphopenia, Abnormality of neutrophils, Umbilical hernia ORPHA:2268
Immunodeficiency 9
Lymphopenia, Amelogenesis imperfecta, Hypoplasia of the thymus, Abnormal natural killer cell count OMIM:612782
Immunodeficiency 31C
Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Hypothyroidism, Delayed puberty, Impaired... OMIM:614162
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Lymphopenia, Leukopenia, Neutropenia, Schistocytosis, Anemia, Thrombocytopenia, Hemolytic anemia OMIM:301110
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Hypoplasia of the thymus, Enamel hypoplas... OMIM:243150
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Granuloma, Lymphopenia, Hepatosplenomegaly, Impaired oxidative burst, Abscess, Splenomegaly, Peri... OMIM:618935
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Lymphopenia, Splenomegaly, Aplasia of the t... OMIM:602450
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Type I diabetes mellitus, Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemia, Primary h... ORPHA:391487
Autoimmune Lymphoproliferative Syndrome
Thyroid adenoma, Lymphopenia, Hypersplenism, Thyroid carcinoma, Decreased proportion of CD4-posit... ORPHA:3261
Fusariosis
Cellulitis, Granuloma, Brain abscess, Fasciitis, Abnormality of the spleen, Lymphopenia, Lung abs... ORPHA:228119
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Lymphopenia, T lymphocytopenia, Absent natural killer cells, Impaired lymphocyte transformation w... OMIM:600802
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Adrenal cortical sclerosis, Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Reduced red c... OMIM:102700
Cushing Syndrome Due To Ectopic Acth Secretion
Increased circulating cortisol level, Increased urinary cortisol level, Lymphopenia, Adrenal hype... ORPHA:99889
Dyskeratosis Congenita, Autosomal Dominant 1
Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leukopenia, Thrombocytopenia, An... OMIM:127550
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Absent natural killer cells, Lymphopenia, Hepatosplenomegaly, Impaired lymphocyte transformation ... ORPHA:35078
Immunodeficiency 55
Lymphopenia, Absent natural killer cells, Neutropenia OMIM:617827
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Anemia, Lymphopenia, Inguinal hernia ORPHA:935
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea... OMIM:301000

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.

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
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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