Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
ribosomal protein L22
Synonyms:
2700038K18Rik

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 Rpl22 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 Rpl22 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis, Pn... OMIM:247800
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia, Recurrent otitis media, Defective T ce... OMIM:615615
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Podocyte foot process effacement, Decreased specific pneumococcal antibody level, Increased CD4:C... OMIM:617006
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Agammaglobulinemia OMIM:200900
Immunodeficiency 79
Recurrent otitis media, Decreased proportion of CD4-positive T cells OMIM:619238
Immunodeficiency 40
Lymphopenia OMIM:616433
Reticular Dysgenesis
Congenital agranulocytosis, Lymphopenia, Lack of T cell function, Hypoplasia of the thymus, Impai... OMIM:267500
Immunodeficiency 15A
Cutaneous abscess, Decreased proportion of CD8-positive T cells, Decreased proportion of memory B... OMIM:618204
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... OMIM:312863
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, E... OMIM:614493
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Immunodeficiency 24
Partial absence of specific antibody response to tetanus vaccine, Defective T cell proliferation,... OMIM:615897
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Immunodeficiency 17
Autoimmune hemolytic anemia, Eczema, Recurrent otitis media, Decreased proportion of CD8-positive... OMIM:615607
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Decreased helper T cell proportion, Pancytopenia, Hypersplenism, Splenomegaly OMIM:183350
Severe Combined Immunodeficiency, X-Linked
T lymphocytopenia, Skin rash, Chronic oral candidiasis, Decreased circulating IgE, Impaired lymph... OMIM:300400
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Nephrotic Syndrome, Type 7
Hemolytic anemia, Acute kidney injury, Thrombocytopenia, Glomerulonephritis, Hemolytic-uremic syn... OMIM:615008
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgM level, Increased circulating IgE level, Decreased proportion of CD8-pos... OMIM:617241
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Atopic dermatitis, Abnormally low T cell receptor excision circle level, Pneum... OMIM:618806
Immunodeficiency 8
Lymphopenia OMIM:615401
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Absent tonsils, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positiv... OMIM:611926
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I... OMIM:615513
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Pneumonia, Splenomegaly, Eczema, Otitis media, Lymphadenopathy OMIM:608971
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Glomerulonephritis, Hematuria, Increased circulating IgA level OMIM:314000
Cd8 Deficiency, Familial
Absence of CD8-positive T cells, Bronchiectasis OMIM:608957
Immunodeficiency, Common Variable, 6
Autoimmune thrombocytopenia, Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune compl... OMIM:613496
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Decreased circulating to... OMIM:618987
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Immunodeficiency 19
Lymphopenia, Recurrent otitis media OMIM:615617
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Recurrent urinary tract infections, Neutropeni... OMIM:300988
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... OMIM:247630
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Immunodeficiency 76
T lymphocytopenia, Recurrent pneumonia, Lymphopenia, Colitis, B lymphocytopenia, Splenomegaly, Ly... OMIM:619164
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Increased circulating IgE level, Decreased proportion of CD8-po... ORPHA:169154
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, T lymphocytopenia, Increased circulating IgE level, Lymphopenia, Recurrent otitis... ORPHA:277
Cernunnos-Xlf Deficiency
T lymphocytopenia, Decreased circulating antibody level, Lymphopenia, Thrombocytopenia, B lymphoc... ORPHA:169079
Tubulointerstitial Nephritis With Uveitis
Panuveitis, Reversible renal failure, Uveitis, Acute tubulointerstitial nephritis, Glomerulonephr... OMIM:607665
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Autoimmu... OMIM:619375
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Purulent rhinitis, Panhypogammaglobulinemia, Pneumonia, Conjunctivitis, B lymp... OMIM:601457
Immunodeficiency 13
T lymphocytopenia, Bronchiectasis, Lymphopenia, Decreased proportion of CD4-positive helper T cel... OMIM:615518
Systemic Lupus Erythematosus
Hemolytic anemia, Pericarditis, Thrombocytopenia, Lupus nephritis, Malar rash, Leukopenia, Nephri... OMIM:152700
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Focal segmental glomerulo... OMIM:619201
Immunodeficiency 72 With Autoinflammation
Increased circulating IgE level, Bronchiectasis, Recurrent otitis media, Increased circulating Ig... OMIM:618982
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, T lymphocytopenia, Skin rash, Partial absence of specific an... OMIM:618108
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD69 upregulation upon TCR activation, Autoimmune thrombocytopenia, Bronchiectasis, Dec... OMIM:300853
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Skin rash, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopen... ORPHA:911
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Skin rash, Autoimmune hemolytic anemia, Re... OMIM:619374
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased circulating IgM level, Increased proportion autoreactive unresp... OMIM:618534
Omenn Syndrome
Severe B lymphocytopenia, Erythroderma, Pneumonia, Lymphadenopathy, Thrombocytopenia, Hypoplasia ... OMIM:603554
Immunodeficiency 52
Coombs-positive hemolytic anemia, Recurrent pneumonia, Autoimmune thrombocytopenia, Bronchiectasi... OMIM:617514
Agammaglobulinemia 8, Autosomal Dominant
Recurrent otitis media, B lymphocytopenia, Agammaglobulinemia OMIM:616941
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Nephrotic Syndrome, Type 10
Steroid-resistant nephrotic syndrome, Podocyte foot process effacement, Minimal change glomerulon... OMIM:615861
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Renal insufficiency, Glomerular deposits, Nephrotic syndrome ORPHA:69063
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Interstitial pneumonitis, Autoimmune hemolytic anemia, Neutropenia in presence... ORPHA:231154
Immunodeficiency 25
T lymphocytopenia, Increased circulating IgM level, Increased circulating IgE level, Autoimmune h... OMIM:610163
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, T l... OMIM:618986
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Bronchiectasis, Eczematoid dermatitis, Lymphopenia, Pyoderma, Abnormal T c... OMIM:242700
Idiopathic Non-Lupus Full-House Nephropathy
Skin rash, Acute kidney injury, Proteinuria, Synovitis, Abnormal glomerular mesangium morphology,... ORPHA:567544
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Increased circulating IgE level, Autoimmune thrombocytopenia, H... OMIM:304790
Immunodeficiency 68
T lymphocytopenia, Lymphadenitis, Abnormal natural killer cell count, Septic arthritis, B lymphoc... OMIM:612260
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Renal insufficiency, Minimal ... OMIM:256020
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent peripheral lymph nodes in presence of infection, T lymphocytopenia, Cutaneous anergy, Abse... OMIM:600802
Transcobalamin Deficiency
Acute kidney injury, Decreased circulating antibody level, Lymphopenia, Neutropenia, Thrombocytop... ORPHA:859
Pgm3-Cdg
Cutaneous abscess, Bronchiectasis, Decreased proportion of CD4-positive helper T cells, Neutropen... ORPHA:443811
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Hypothyroidism, Membranous nephropathy, Nephrotic syndrome, Hepatosplenomegaly... OMIM:618999
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Atopic dermatitis, Increased circulating IgE level, Recurrent bacterial skin i... ORPHA:217390
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
C3 Glomerulopathy 3
Glomerulonephritis, Renal insufficiency, Hematuria, Stage 5 chronic kidney disease OMIM:614809
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Recurren... ORPHA:444463
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Immunodeficiency 70
Furuncle, Decreased proportion of CD4-positive helper T cells, Recurrent sinusitis, Decreased cir... OMIM:618969
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Decreased specific anti-polysaccharid... ORPHA:3261
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Recurrent pneumonia, Bronchiectasis, Recur... OMIM:607594
Ataxia-Telangiectasia
Defective B cell differentiation, T lymphocytopenia, Bronchiectasis, Decreased proportion of CD4-... OMIM:208900
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Neutropenia OMIM:614868
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:601859
Complement Component 3 Deficiency, Autosomal Recessive
Membranoproliferative glomerulonephritis, Renal insufficiency, Nephrotic syndrome OMIM:613779
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Recurrent pneumonia, Intermittent thrombocytopenia, Bronchiectasis, Chron... OMIM:150550
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, Skin rash, Pustule, Absent natural killer cells, Chronic oral candidiasis, Par... ORPHA:35078
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Skin rash, Autoimmune hemolytic anemia, Lymphadenitis, Decreased proportion of CD3-positive T cel... ORPHA:331206
C3 Glomerulopathy
Hematuria, Acute kidney injury, Membranoproliferative glomerulonephritis, Paraproteinemia, Chroni... ORPHA:329918
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Increased circulating IgE level, Autoimmune thro... OMIM:102700
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Splenomegaly OMIM:606445
Lipodystrophy, Partial, Acquired, Susceptibility To
Hematuria, Polycystic ovaries, Membranoproliferative glomerulonephritis, Nephrotic syndrome, Diab... OMIM:608709
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgG level, Increased B cell count, Lymphadenopathy, Eosinophilia, Iron defi... OMIM:603909
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Nephrotic Syndrome, Type 15
Minimal change glomerulonephritis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:617609
Selective Igm Deficiency
Cutaneous abscess, Bronchiectasis, Decreased specific antibody response to vaccination, Recurrent... ORPHA:331235
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Cryptorchidism, Lymphopenia, Patent ductus arteriosus, Neutrop... OMIM:612541
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Skin rash, Chronic oral candidiasis, Decreased proportion of CD3-positive T cells... ORPHA:276
Immunodeficiency By Defective Expression Of Mhc Class Ii
T lymphocytopenia, Abnormal CD4:CD8 ratio, Skin rash, Chronic hepatitis due to cryptosporidium in... ORPHA:572
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hemolytic anemia, Increased circulating IgE level, Chronic oral candidiasis, D... OMIM:606367
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Erythroderma, Decreased proportion of CD3-positive T cells, Lymphopenia... ORPHA:169160
Schimke Immuno-Osseous Dysplasia
Focal segmental glomerulosclerosis, Abnormal proportion of naive CD4 T cells, Lymphopenia, Nephro... ORPHA:1830
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Immunodeficiency, Common Variable, 13
Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Immunodeficiency 23
Allergic rhinitis, Hemolytic anemia, Increased circulating IgM level, Bronchiectasis, Increased c... OMIM:615816
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Decreased proportion of CD4-positive helpe... OMIM:301000
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia, Arthritis ORPHA:2582
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia... OMIM:619126
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Monocytosis, Thrombocytosis, Leukocytosis, Decreased circula... OMIM:619281
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Interstitial pneumonitis, Eczematoid dermatitis, Thyroiditis, Neutropenia, Pneumonia, Myositis, E... ORPHA:37042
C1Q Deficiency
Membranoproliferative glomerulonephritis OMIM:613652
X-Linked Lymphoproliferative Disease
Lymphocytosis, Pancytopenia, Histiocytosis, Myocarditis, Increased B cell count, Cervical lymphad... ORPHA:2442
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Membranoproliferative glomerulonephritis, Hematuria, Proteinuria, Nephrotic syndrome OMIM:613913
Immunodeficiency 22
Decreased proportion of CD4-positive helper T cells, Panniculitis OMIM:615758
Immunodeficiency 21
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... OMIM:614172
Progressive Multifocal Leukoencephalopathy
Abnormal proportion of CD4-positive T cells, Decreased proportion of CD8-positive T cells ORPHA:217260
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Lymphopenia, Decreased circulating IgG level OMIM:152800
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Glomerulonephritis, Chronic kidney disease ORPHA:2172
Lymphoproliferative Syndrome 1
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased circulating antibody level, D... OMIM:613011
Marfanoid Habitus With Microcephaly And Glomerulonephritis
Glomerulonephritis, Renal insufficiency OMIM:248760
Autoimmune Hepatitis
Inflammation of the large intestine, Acute hepatitis, Viral hepatitis, Thyroiditis, Increased cir... ORPHA:2137
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Recurrent pneumonia, Thrombocytosis, Megaloblastic anemia, Decreased circulating antibody level, ... OMIM:617780
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Increased circulating IgM level, Bronchiectasis, Pneumonia, Reduced natural ki... OMIM:242860
Igg4-Related Kidney Disease
Increased circulating IgG1 level, Hematuria, Pericarditis, Acute kidney injury, Interstitial pneu... ORPHA:449395
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Aplasia of the thymus, Lymph node hypoplasia, Panhypogammaglobulinemia, Pneumonia... OMIM:602450
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Urachal cyst, Leukocytosis, Impaired oxidative burst, Abnormally low T cell receptor excision cir... OMIM:608203
Galloway-Mowat Syndrome 2, X-Linked
Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Minimal change glomerul... OMIM:301006
Congenital Disorder Of Glycosylation, Type Iir
Hypospadias, Decreased circulating antibody level, Decreased proportion of CD4-positive T cells OMIM:301045
Complement Component 4A Deficiency
Glomerulonephritis OMIM:614380
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolytic anemia, Decreased circulating a... OMIM:616100
Gastrointestinal Defects And Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Interface hepatitis, Hypoplasia of the thymus OMIM:243150
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Nephrotic Syndrome, Type 11
Focal segmental glomerulosclerosis, Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic ki... OMIM:616730
Burkitt Lymphoma
Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen, Abnormality of th... ORPHA:543
Cystic Echinococcosis
Ovarian cyst, Peritoneal abscess, Increased circulating antibody level, Abnormality of the testis... ORPHA:400
Bacterial Toxic-Shock Syndrome
Peritonitis, Skin rash, Myocarditis, Recurrent urinary tract infections, Increased circulating me... ORPHA:36234
Immunodeficiency 36
Bronchiectasis, Decreased circulating antibody level, Lymphopenia, Chronic lymphatic leukemia, Sp... OMIM:616005
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Chronic oral candidiasis, Decreased proportion of CD3-positive T cells, Hashimoto thyr... ORPHA:275
Idiopathic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Acute kidney injury, Focal segmental glomerulosclerosis, Foamy urine, Abnormal glome... ORPHA:567548
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Increased circulating IgM level, Lymphopenia, Neutropenia, Recurrent ... ORPHA:2688
Primary Sjögren Syndrome
Thyroiditis, Decreased proportion of CD4-positive helper T cells, Optic neuritis, Chronic hepatit... ORPHA:289390
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal tubular ... OMIM:613092
Lymphatic Filariasis
Hydrocele testis, Epididymitis, Hematuria, Urethral obstruction, Lymphadenitis, Orchitis, Vaginal... ORPHA:2035
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Glomerulonephritis, Stage 5 chronic kidney disease, Chronic tubulointerstitial ... OMIM:614376
Galloway-Mowat Syndrome 7
Focal segmental glomerulosclerosis, Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic ki... OMIM:618348
Brucellosis
Pericarditis, Intrarenal abscess, Pneumonia, Increased circulating IgG level, Anemia, Hyperspleni... ORPHA:1304
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Mesangial hypercellularity, Crescentic glomerulonephritis, Arthritis OMIM:616414
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased proportion of... ORPHA:66628
Macrocephaly/Autism Syndrome
Decreased circulating antibody level, Lymphopenia, Splenomegaly OMIM:605309
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Decreased proportion of memory B cells, Panhypogammaglobulinemia, Abnormal nat... ORPHA:79124
Mu-Heavy Chain Disease
Abnormal B cell count, Lymphadenopathy, Anemia, Splenomegaly ORPHA:100024
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Hypothyroidism, Lymphopenia, Recurrent sinusitis, Neutropenia, Anemi... OMIM:618849
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased proportion of... ORPHA:179494
Igg4-Related Retroperitoneal Fibrosis
Dysuria, Hydrocele testis, Unilateral renal hypoplasia, Hematuria, Acute kidney injury, Renovascu... ORPHA:49041
Wiskott-Aldrich Syndrome
Chronic leukemia, Neutropenia, Anemia, Sinusitis, Eczema, Otitis media, Acute leukemia, Hypoplasi... ORPHA:906
Aregenerative Anemia
Erythroid hypoplasia, Decreased proportion of CD4-positive helper T cells, Neutropenia, Reticuloc... ORPHA:101096
Alport Syndrome 3, Autosomal Dominant
Renal insufficiency, Hematuria, Glomerulonephritis, Glomerular basement membrane lamellation, Sta... OMIM:104200
Lysinuric Protein Intolerance
Argininuria, Anemia, Leukopenia, Hyperlysinuria, Decreased response to growth hormone stimuation ... ORPHA:470
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
T lymphocytopenia, Horseshoe kidney, Decreased proportion of CD8-positive T cells, Increased circ... ORPHA:508533
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Enlarged kidney, Membranoproliferative glomerulonephritis, Delayed pub... ORPHA:251004
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Recurrent tonsillitis, Hemolytic anemia, Lymphadenitis, Lymphopenia, Impaire... OMIM:618935
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Skin rash, Increased circulating IgM level, Leukocytosis, Panniculitis, Increased proportion of C... OMIM:617099
Syndromic Diarrhea
Thrombocytosis, Renal hypoplasia, Hypothyroidism, Lymphopenia, Patent ductus arteriosus, Increase... ORPHA:84064
Actinic Prurigo
Glomerulonephritis, Pyoderma, Cheilitis OMIM:174770
Leukocyte Adhesion Deficiency
Peritonitis, Hyperinsulinemic hypoglycemia, Bronchiectasis, Recurrent urinary tract infections, P... ORPHA:2968
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Increased circulating IgM level, Hemolytic anemia, Decreased c... OMIM:308230
Complement Factor I Deficiency
Pyelonephritis, Recurrent otitis media, Recurrent sinusitis, Recurrent urinary tract infections, ... OMIM:610984
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Lymphopenia OMIM:207731
Pauci-Immune Glomerulonephritis
Arteritis, Acute kidney injury, Scleritis, Nephrotic range proteinuria, Glomerular sclerosis, Dec... ORPHA:93126
Chronic Beryllium Disease
Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T cells, Lymphocytic interstitia... ORPHA:133
Wiskott-Aldrich Syndrome, Autosomal Dominant
Iron deficiency anemia, Inflammation of the large intestine, Decreased mean platelet volume, Hemo... OMIM:600903
Purine Nucleoside Phosphorylase Deficiency
Decreased urinary urate, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased prop... ORPHA:760
Nijmegen Breakage Syndrome
T lymphocytopenia, Recurrent pneumonia, Bronchiectasis, Autoimmune hemolytic anemia, Recurrent ur... OMIM:251260
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hypoplasia of the thymus, Cryptorchidism, Aminoaciduria, Polycystic kidney dysplasia OMIM:214110
Secondary Intestinal Lymphangiectasia
Decreased circulating antibody level, Lymphopenia, Abnormality of the lymphatic system, Recurrent... ORPHA:90363
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Hydrocele testis, Membranoproliferative glomerulonephritis, Chronic kidney disease, Pulmonary lym... OMIM:137940
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus ORPHA:40366
Agammaglobulinemia 1, Autosomal Recessive
B lymphocytopenia, Neutropenia OMIM:601495
Isolated Anencephaly
Thymus hyperplasia, Maternal diabetes, Adrenal hypoplasia ORPHA:563609
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Autoimmune hemolytic anemia, Hashimoto thyroiditis, Rectal abscess, Hypoplasi... ORPHA:436252
Spondyloenchondrodysplasia With Immune Dysregulation
T lymphocytopenia, Autoimmune thrombocytopenia, Tubulointerstitial fibrosis, Hypothyroidism, Lymp... OMIM:607944
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus OMIM:617022
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Chronic oral candidiasis, Decreased circulating total IgM, Decreased specific antibody response t... ORPHA:221139
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial fibrosis, Renal hypoplasia, Glomerular sclerosis, Renal salt wasting, Renal tu... OMIM:174000
Orotic Aciduria
Hypochromia, Hematuria, Folate-unresponsive megaloblastic anemia, Anisocytosis, Impaired T cell f... OMIM:258900
Progeria-Short Stature-Pigmented Nevi Syndrome
T lymphocytopenia, Microcytic anemia, Hypergonadotropic hypogonadism, Insulin-resistant diabetes ... ORPHA:2959
Refractory Celiac Disease
Iron deficiency anemia, Inflammatory abnormality of the skin, Microcytic anemia, Increased propor... ORPHA:398063
Cryptosporidiosis
Cholangitis, Decreased proportion of CD4-positive helper T cells, Abnormal T cell count, Pancreat... ORPHA:1549
Systemic Sclerosis
Osteomyelitis, Acute kidney injury, Pericarditis, Albuminuria, Proteinuria, Glomerulonephritis, C... ORPHA:90291
Eec Syndrome
Urethral atresia, Hypoplasia of the thymus, Vesicoureteral reflux, Keratitis, Hydronephrosis, Inf... ORPHA:1896
Vici Syndrome
Cutaneous anergy, Penile hypospadias, Decreased proportion of CD4-positive helper T cells, Decrea... OMIM:242840
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Iron deficiency anemia, Gastrointestinal inflammation, Urinary bladder sphincter dysfunction, Ren... ORPHA:79408
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hydrocele testis, Albuminuria, Focal segmental glomerulosclerosis, Microscopic hematuria, Macrosc... ORPHA:567546
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus ORPHA:3004
Nail-Patella Syndrome
Hematuria, Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Proteinuria OMIM:161200
22Q11.2 Deletion Syndrome
Cryptorchidism, Seborrheic dermatitis, Multiple renal cysts, Renal hypoplasia, Hypothyroidism, Ch... ORPHA:567
Bloom Syndrome
Skin rash, Recurrent tonsillitis, Decreased circulating total IgM, Decreased circulating antibody... ORPHA:125
Goodpasture Syndrome
Erythrocyte cylindruria, Cylindruria, Glomerulonephritis, Macroscopic hematuria, Anemia, Renal in... OMIM:233450
Microsporidiosis
Peritonitis, Thyroiditis, Decreased proportion of CD4-positive helper T cells, Pneumonia, Abnorma... ORPHA:2552
Treacher-Collins Syndrome
Cryptorchidism, Patent ductus arteriosus, Hypoplasia of the thymus, Thyroid hypoplasia, Hypoplasi... ORPHA:861
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Autoimmune he... OMIM:614700
Cocaine Intoxication
Hematuria, Acute kidney injury, Colitis, Glomerulonephritis, Tubulointerstitial nephritis, Protei... ORPHA:90068
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Neutropenia, Reticulocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Leukope... ORPHA:508542
Thymoma
Hemolytic anemia, Abnormal lymphocyte morphology, Pancytopenia, B lymphocytopenia, Lymphadenopathy ORPHA:99867
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Severe B lymphocytopenia, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Abnormal s... ORPHA:293978
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, Sideroblastic anemia, B lymphocytopenia, Splenomegaly, Schistocytosis OMIM:616084
Monosomy 22
Hypochromic microcytic anemia, Seborrheic dermatitis, Aplasia of the thymus, Hepatosplenomegaly, ... ORPHA:96123
Proteus-Like Syndrome
Thymus hyperplasia, Abnormality of the parathyroid gland, Polycystic ovaries, Splenomegaly ORPHA:2969
Truncus Arteriosus
Hypoplasia of the thymus, Adrenocortical abnormality, Patent ductus arteriosus ORPHA:3384
Alström Syndrome
Decreased circulating T4 level, Elevated circulating thyroid-stimulating hormone concentration, R... ORPHA:64
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Neutropenia in presence of... ORPHA:391487
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, Cryptorchidism, Cholelithiasis, Biliary hyperplasia, Pancreatic hypopla... ORPHA:83617
Proteus Syndrome
Ovarian neoplasm, Long penis, Macroorchidism, Neoplasm of the thymus, Renal cyst, Splenomegaly, T... ORPHA:744

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 Rpl22

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 Rpl22.

No publications found that use IMPC mice or data for Rpl22.

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MGI Allele Allele Type Produced
Rpl22tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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