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Gene: Slc19a1 MGI:103182

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
solute carrier family 19 (folate transporter), member 1
Synonyms:
RFC1,  reduced folate carrier,  RFC-1

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

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 Slc19a1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Slc19a1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Megaloblastic Anemia, Folate-Responsive
Episodic hemolytic anemia, Schistocytosis, Folate-responsive megaloblastic anemia, Hypersegmentat... OMIM:601775

The table below shows human diseases predicted to be associated to Slc19a1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia ORPHA:46532
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Short stature, Anisocytosis, Anemia of inadequate production, Sple... OMIM:615631
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Growth delay, Decreased mean corpuscular volume, Azoospermia, Hypogon... OMIM:615234
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Weight loss, Anemia, Pallor, Thrombocytopenia ORPHA:517
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... ORPHA:75564
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno... ORPHA:507
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Isothenuria, Hemolytic anemia, Reticulocytosis, Short stature, Hepatosplenomegaly, Nephrocalcinos... OMIM:611590
Familial Adenomatous Polyposis 2
Adenomatous colonic polyposis, Colon cancer OMIM:608456
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Petechiae, Portal hypertension, Cachexi... ORPHA:824
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated hepatic transaminase, Sideroblastic anemia, Hepatomegaly, Growth delay, Pallor, Failure ... OMIM:613561
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Splenomegaly, Pallor, Anemia ORPHA:75563
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly... ORPHA:848
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Abnormality of the liver, Pallor, Elevated hepatic iron concentrati... ORPHA:231222
Acute Peripheral Arterial Occlusion
Leukocytosis, Pallor ORPHA:90064
Polyposis Syndrome, Hereditary Mixed, 2
Hyperplastic colonic polyposis, Adenomatous colonic polyposis, Colon cancer, Juvenile colonic pol... OMIM:610069
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated hepatic transaminase, Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Growth... ORPHA:300298
Immunodeficiency 24
Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ... OMIM:615897
Breath-Holding Spells
Iron deficiency anemia, Pallor OMIM:607578
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa... ORPHA:3226
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... ORPHA:822
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim... ORPHA:331206
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Pallor, Hypoparathyroidism, Skin ul... ORPHA:231226
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl... OMIM:617514
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Cold Agglutinin Disease
Hemolytic anemia, Abnormal urinary color, Hepatomegaly, Splenomegaly, Lymphadenopathy, Pallor ORPHA:56425
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Prolonged ne... OMIM:300908
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hepatic fibrosis, Pallor, Hypoparathyroidism, Hepatomegaly, Anemia ... ORPHA:231214
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Abnormal hemoglobin, Splenomegaly, Pallor, Anemia ORPHA:163596
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, Growth delay, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Growth delay, Pallor, Hypochromic a... OMIM:600462
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Failure to thrive, Pallor ORPHA:79283
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Megaloblastic anemia, Anisopoikilo... ORPHA:35858
Congenital Dyserythropoietic Anemia Type Iii
Elevated hepatic transaminase, Short stature, Anisocytosis, Abnormal erythrocyte morphology, Incr... ORPHA:98870
Thiamine-Responsive Megaloblastic Anemia Syndrome
Short stature, Pallor, Thrombocytopenia, Megaloblastic anemia ORPHA:49827
Anemia, Sideroblastic, 1
Sideroblastic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production, Hypochro... OMIM:300751
Elliptocytosis 1
Hemolytic anemia, Splenomegaly, Jaundice, Elliptocytosis, Pallor OMIM:611804
Immunodeficiency 54
Hepatomegaly, Failure to thrive, Short stature, Postnatal growth retardation, Splenomegaly, Adren... OMIM:609981
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Evans Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Jaundice, Neutropenia in presence of an... ORPHA:1959
Mirage Syndrome
Decreased body weight, Short stature, Hypospadias, Hypergonadotropic hypogonadism, Petechiae, Cry... OMIM:617053
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Pa... OMIM:613839
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Esophageal neoplasm, Gastroesop... ORPHA:2198
Hirschsprung Disease, Susceptibility To, 3
Total colonic aganglionosis, Aganglionic megacolon, Long-segment aganglionic megacolon OMIM:613711
Immunodeficiency 19
T lymphocytopenia, Failure to thrive, Abnormal B cell morphology, Abnormal natural killer cell mo... OMIM:615617
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... OMIM:619924
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, Growth delay, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia, Pallor, Abnormal urinary color ORPHA:90037
Hemochromatosis, Type 3
Elevated hepatic transaminase, Purpura, Hypogonadotropic hypogonadism, Impotence, Cirrhosis, Neut... OMIM:604250
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... ORPHA:98849
3-Methylglutaconic Aciduria, Type V
Hypospadias, Elevated circulating aspartate aminotransferase concentration, Postnatal growth reta... OMIM:610198
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... ORPHA:101096
Fanconi Anemia, Complementation Group I
Short stature, Decreased response to growth hormone stimulation test, Renal hypoplasia, Horseshoe... OMIM:609053
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc... OMIM:619846
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Reticulocytopenia, 3-Methylglutaric aciduria, Renal Fanconi syndrome, Compl... OMIM:557000
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Glomerulonephritis, Hepatosplenomegaly, Iron deficiency anemia, Pallor, Failure to ... ORPHA:99931
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Glomerulonephritis OMIM:247800
Letterer-Siwe Disease
Jaundice, Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Thrombocytopenia OMIM:246400
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic le... ORPHA:90033
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Short stature, Pallor ORPHA:2786
Myelofibrosis
Splenomegaly, Pallor, Myeloproliferative disorder, Purpura OMIM:254450
Sepsis In Premature Infants
Hepatomegaly, Small for gestational age, Petechiae, Splenomegaly, Leukocytosis, Jaundice, Oliguri... ORPHA:90051
Peripheral Cone Dystrophy
Pallor OMIM:609021
Fanconi Anemia, Complementation Group E
Pancytopenia, Short stature, Hypergonadotropic hypogonadism, Small for gestational age, Ectopic k... OMIM:600901
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Intrauterine growth retardation, Pancytopenia OMIM:600546
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Increased level of hippuric acid in urine, Glutaric aciduria, Anemia, 3-Methylgluta... OMIM:246450
Immunodeficiency 8 With Lymphoproliferation
Lymphopenia OMIM:615401
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Short stature, Postnatal growth retardation, Splenomegaly, Leukopenia, Lymphopenia OMIM:620210
Fanconi Anemia, Complementation Group A
Male infertility, Pancytopenia, Short stature, Hypergonadotropic hypogonadism, Small for gestatio... OMIM:227650
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Pallor, Failure to thrive, Thrombocytopenia ORPHA:90045
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Fanconi Anemia, Complementation Group C
Pancytopenia, Short stature, Hypergonadotropic hypogonadism, Small for gestational age, Ectopic k... OMIM:227645
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Optic Atrophy 1
Pallor OMIM:165500
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Mild postnatal growth retardation, Small for ges... OMIM:224120
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor, Pancreatic islet-cell hyperplasia, Increased body weight ORPHA:276608
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Psoriasiform lesion, Eosinophilia, Autoimmune thrombocytopenia, Decreased prop... ORPHA:169154
Ataxia-Telangiectasia
Elevated hepatic transaminase, Failure to thrive, Short stature, Polycystic ovaries, Aplasia/Hypo... ORPHA:100
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropenia, Monocytopeni... OMIM:614172
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Failure... ORPHA:277
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Large for gestational age, Pallor, Diffuse pancreatic islet hyperplasia, Focal panc... ORPHA:276575
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... OMIM:602450
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Small for gestational age, Pallor, Large for gestational age ORPHA:324575
Dermatitis, Atopic
Dry skin, Pallor, Facial erythema OMIM:603165
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Large for gestational age, Pallor, Hepatomegaly ORPHA:276556
Stormorken Syndrome
Howell-Jolly bodies, Short stature, Asplenia, Anemia, Hematuria, Hypoplastic spleen, Thrombocytop... OMIM:185070
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Large for gestational age, Pallor, Hepatomegaly ORPHA:276580
Adenohypophysitis
Decreased female libido, Reduced circulating prolactin concentration, Decreased male libido, Adre... ORPHA:95512
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Pallor, Poikilocytosis, Anemia OMIM:616959
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemic pallor, Anemia of inadequate production, Leukocytosis, Abnormal me... ORPHA:86839
Immunodeficiency 36 With Lymphoproliferation
Short stature, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Growth delay, Increase... OMIM:616005
Panhypophysitis
Decreased female libido, Reduced circulating prolactin concentration, Decreased male libido, Adre... ORPHA:95513
Gracile Bone Dysplasia
Short stature, Asplenia, Micropenis, Hypoplastic spleen, Failure to thrive OMIM:602361
Mixed-Type Autoimmune Hemolytic Anemia
Abnormal urinary color, Autoimmune hemolytic anemia, Pallor ORPHA:90036
Diamond-Blackfan Anemia
Acute myeloid leukemia, Short stature, Hypospadias, Pure red cell aplasia, Small for gestational ... ORPHA:124
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ketonuria, Leukocytosis, Jaundic... ORPHA:20
American Trypanosomiasis
Hepatomegaly, Splenomegaly, Pallor, Lymphadenopathy ORPHA:3386
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Short stature, Abscess, Perianal abscess, Splenomegaly, Lym... OMIM:618935
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Immunodeficiency 95
Lymphopenia OMIM:619773
Lissencephaly Syndrome, Norman-Roberts Type
Intrauterine growth retardation, Hypoplastic spleen ORPHA:89844
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Postnatal growt... ORPHA:288
Immunodeficiency 55
Absent natural killer cells, Short stature, Postnatal growth retardation, Dry skin, Lymphadenopat... OMIM:617827
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Renal insufficiency, Abnormality of neutrophils, Splenomegaly, L... ORPHA:33226
Fanconi Anemia, Complementation Group D2
Pancytopenia, Short stature, Hypergonadotropic hypogonadism, Small for gestational age, Ectopic k... OMIM:227646
Sheehan Syndrome
Dyspareunia, Decreased female libido, Reduced circulating prolactin concentration, Adrenocorticot... ORPHA:91355
Transcobalamin Deficiency
Pancytopenia, Methylmalonic aciduria, Neutropenia, Lymphopenia, Acute kidney injury, Thrombocytop... ORPHA:859
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Elevated hepatic tr... ORPHA:79303
Senior-Loken Syndrome 8
Global glomerulosclerosis, Hepatic cysts, Pancreatic cysts, Stage 5 chronic kidney disease, Pallo... OMIM:616307
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Large for gestational age, Increased bo... ORPHA:263455
Macrocephaly/Autism Syndrome
Hepatomegaly, Penile freckling, Large for gestational age, Splenomegaly, Obesity, Cutis laxa, Hyd... OMIM:605309
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Stillbirth, Lymphopenia OMIM:152800
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Postnatal growth retardation, Splenomegaly, Growth d... OMIM:613027
Cyclic Vomiting Syndrome
Growth delay, Pallor OMIM:500007
Microphthalmia, Syndromic 9
Severe short stature, Short stature, Cryptorchidism, Multilobulated spleen, Renal hypoplasia, Hor... OMIM:601186
Immunodeficiency 85 And Autoimmunity
Failure to thrive in infancy, Growth delay, T lymphocytopenia, Decreased proportion of CD4-positi... OMIM:619510
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Plummer-Vinson Syndrome
Iron deficiency anemia, Pallor, Hypochromic microcytic anemia ORPHA:54028
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Beta-Ketothiolase Deficiency
Hepatomegaly, Ketonuria, Leukocytosis, Weight loss, Pallor, Thrombocytosis ORPHA:134
Meconium Ileus
Microcolon, Meconium ileus OMIM:614665
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Pearson Syndrome
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Neut... ORPHA:699
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil chemotaxis, Lymphadenitis, Neutrop... OMIM:618986
Pituitary Apoplexy
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... ORPHA:95613
Non-Functioning Paraganglioma
Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated urinary epinephr... ORPHA:94080
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T... OMIM:242700
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Retinitis Pigmentosa 51
Pallor, Obesity OMIM:613464
Idiopathic Hypereosinophilic Syndrome
Elevated hepatic transaminase, Neutrophilia, Generalized lymphadenopathy, Eosinophilia, Cholangit... ORPHA:3260
Prolactinoma
Pallor, Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed p... ORPHA:2965
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Thrombocy... OMIM:617780
Immunodeficiency 44
Lymphopenia, Elevated circulating alanine aminotransferase concentration OMIM:616636
Congenital Heart Block
Intrauterine growth retardation, Pallor ORPHA:60041
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Lymphopenia, Thrombocytopenia, Genital ulcers OMIM:616744
Diamond-Blackfan Anemia 1
Macrocytic anemia, Short stature, Congenital hypoplastic anemia, Spina bifida occulta, Reticulocy... OMIM:105650
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Hepatomegaly, Decreased proportion of naive T cells, Failure to thrive, Jaundice, Ly... ORPHA:276
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... OMIM:618849
Myopathic Ehlers-Danlos Syndrome
Failure to thrive, Pallor ORPHA:536516
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Short stature, Dysmenorrhea, Postnatal growth retard... ORPHA:79240
Schimke Immunoosseous Dysplasia
Pancytopenia, Renal insufficiency, Proteinuria, Small for gestational age, Bilateral cryptorchidi... OMIM:242900
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Failure to thrive, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypop... OMIM:612541
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Growth delay, Anemic pallor, Anemia ORPHA:329971
Schimke Immuno-Osseous Dysplasia
Neutropenia, Nephropathy, Nephrotic range proteinuria, Short stature, Minimal change glomerulonep... ORPHA:1830
Systemic Lupus Erythematosus 17
Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia OMIM:301080
Fumarase Deficiency
Failure to thrive, Increased urine succinate level, Intrahepatic cholestasis, Mitochondrial swell... OMIM:606812
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, Cutis laxa, T lymphocyt... OMIM:617237
Trichothiodystrophy 3, Photosensitive
Failure to thrive, Short stature, Bilateral cryptorchidism, Neutropenia, Intrauterine growth reta... OMIM:616395
Syndromic Diarrhea
Hepatomegaly, Short stature, Small for gestational age, Increased mean platelet volume, Splenomeg... ORPHA:84064
Pgm3-Cdg
Hemolytic anemia, Failure to thrive, Membranoproliferative glomerulonephritis, Abnormal proportio... ORPHA:443811
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Eosinophilia, Hepatitis, Hepatosplenomegaly, Failure to thrive secondary to recurrent infections,... ORPHA:169160
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Hematochezia, Gastric ul... ORPHA:263665
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Portal hypertension, Cryptorchidism, Anemia, Lymphopenia, Thrombocytopenia OMIM:620365
Irida Syndrome
Intrahepatic cholestasis, Pallor ORPHA:209981
Sporadic Pheochromocytoma/Secreting Paraganglioma
Extraadrenal pheochromocytoma, Proteinuria, Elevated urinary norepinephrine level, Elevated urina... ORPHA:276621
Dyskeratosis Congenita, Autosomal Recessive 5
Postnatal growth retardation, Leukopenia, Bone marrow hypocellularity, Intrauterine growth retard... OMIM:615190
Common Variable Immunodeficiency
Elevated hepatic transaminase, Hemolytic anemia, Failure to thrive in infancy, Autoimmune thrombo... ORPHA:1572
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Weight loss, Growth delay, Abnormal lymphatic vessel morphology, Decreased p... ORPHA:90362
Incontinentia Pigmenti
Short stature, Eosinophilia, Supernumerary nipple, Leukocytosis, Erythema, Breast aplasia, Hypopl... OMIM:308300
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Pyoderma gangrenosum, Acute lymphoblastic ... ORPHA:486
Degcags Syndrome
Bilateral renal hypoplasia, Leukopenia, Iron deficiency anemia, Pallor, Hepatomegaly, Hypospadias... OMIM:619488
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Splenomegaly, Lymphadenopathy, An... OMIM:617591
Dravet Syndrome
Pallor ORPHA:33069
Myopathy, Mitochondrial, And Ataxia
Short stature, Primary amenorrhea, Growth delay, Pallor, Increased circulating prolactin concentr... OMIM:617675
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia,... OMIM:102700
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... OMIM:243150
Cyclic Neutropenia
Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Peritonitis, Recurrent tonsilliti... ORPHA:2686
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Short stature, Thrombocytopenia, Reticulocytopenia, Dry skin, Leukopenia, Rhizomelic arm shorteni... ORPHA:508542
Sting-Associated Vasculopathy, Infantile-Onset
Failure to thrive, Follicular hyperplasia, Erythema, Paratracheal lymphadenopathy, Leukopenia, Th... OMIM:615934
Short Stature, Microcephaly, And Endocrine Dysfunction
Short stature, Unilateral renal agenesis, Ectopic kidney, Cryptorchidism, Renal hypoplasia, Trunc... OMIM:616541
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Failure to thrive, Pure red cell aplasia, Autoimmune thrombocytopeni... OMIM:613179
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop... OMIM:616100
Reni Syndrome
Diffuse mesangial sclerosis, Proteinuria, Cryptorchidism, Stage 5 chronic kidney disease, Nephrot... OMIM:617575
Tsh-Secreting Pituitary Adenoma
Pallor, Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed p... ORPHA:91347
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia ORPHA:2688
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Splenomegaly, Lymphadenopathy, Growth delay, Pallor, Anemia ORPHA:667
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Microcolon, Intestinal malrotation OMIM:619431
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Increased urinary glycerol, Pallor, Hepatic steatosis ORPHA:348
Hereditary Pheochromocytoma-Paraganglioma
Extraadrenal pheochromocytoma, Proteinuria, Elevated urinary norepinephrine level, Elevated urina... ORPHA:29072
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Pa... ORPHA:892
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Elevated hepatic transaminase, Severe B lymphocytopenia, Portal hypertension, C... OMIM:620005
Icf Syndrome
Short stature, Abnormality of neutrophils, Umbilical hernia, Lymphopenia, Anemia ORPHA:2268
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b... ORPHA:3261
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... OMIM:614162
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Lymphopenia, Short stature, Premature ovarian insufficiency ORPHA:391307
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... OMIM:600802
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Multiple Endocrine Neoplasia Type 2
Cervical neoplasm, Elevated urinary catecholamine level, Thyroid C cell hyperplasia, Elevated uri... ORPHA:653
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Lymphopenia, Bone marrow hypocellularity, Abnormally low T cell receptor excision c... OMIM:619767
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Abnormal gastrointestinal vascular morphology, Hematochez... ORPHA:70475
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Lymphopenia OMIM:207731
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Abnormality of the gastrointestinal tract, Intestinal malrotation, Hypoperistalsis, Cryptorchidis... ORPHA:2241
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... ORPHA:35078
Rheumatic Fever
Nephrotic syndrome, Erythema, Pallor ORPHA:3099
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Brain abscess, Anuria, Pancreatitis, Leukocytosis, Oliguria, Pallor, Acute kidn... ORPHA:544482
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal T cell morphology, Decreased u... ORPHA:760
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leu... OMIM:615688
Legionnaires Disease
Renal insufficiency, Proteinuria, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Hematuria, ... ORPHA:549
Immunodeficiency 23
Hemolytic anemia, Failure to thrive, Membranoproliferative glomerulonephritis, Eosinophilia, Absc... OMIM:615816
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Dysphagia, Megaduodenum, Microcolon OMIM:155310
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... OMIM:619573
Ataxia-Telangiectasia
Failure to thrive, Short stature, Female hypogonadism, Acute lymphoblastic leukemia, T lymphocyto... OMIM:208900
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Hepatic necrosis, Anemia, Leukopenia, Increased mean corpuscular volume, Bone ma... OMIM:127550
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, T lymphocytopenia, Abn... OMIM:615607
Acute Radiation Syndrome
Skin ulcer, Scaling skin, Granulocytopenia, Lymphopenia, Thrombocytopenia ORPHA:454831
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Absent pubertal gr... OMIM:250250
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Failure to thrive, Short stature, Renal hypoplasia, Renal cyst, Neutropenia... OMIM:618460
Mednik Syndrome
Volvulus, Jejunal atresia, Microcolon OMIM:609313
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Short stature, Autoimmune thrombocytopenia, Functional abnormality o... ORPHA:391487
Histiocytoid Cardiomyopathy
Hepatomegaly, Renal cyst, Polycystic ovaries, Pallor, Failure to thrive ORPHA:137675
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Petechiae, Microcytic anemia, Abnormality of th... ORPHA:906
Retinitis Pigmentosa 75
Pallor OMIM:617023
Childhood Absence Epilepsy
Pallor, Urinary incontinence ORPHA:64280
Fusariosis
Brain abscess, Lung abscess, Abnormality of the spleen, Peritonitis, Skin ulcer, Abnormality of t... ORPHA:228119
Tay-Sachs Disease
Pallor OMIM:272800
Generalized Pustular Psoriasis
Elevated hepatic transaminase, Renal insufficiency, Overweight, Leukocytosis, Obesity, Lymphopenia ORPHA:247353
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Esophageal Atresia
Abnormal external genitalia, Failure to thrive in infancy, Small for gestational age, Growth dela... ORPHA:1199
Spondyloenchondrodysplasia With Immune Dysregulation
Purpura, Short stature, Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Neutrope... OMIM:607944
Goodpasture Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Weight loss, Pallor, Macroscop... OMIM:233450
Ebola Hemorrhagic Fever
Acute pancreatitis, Hepatitis, Leukopenia, Lymphopenia, Thrombocytopenia ORPHA:319218
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Microcolon OMIM:619362
Vici Syndrome
Failure to thrive, Postnatal growth retardation, Leukopenia, T lymphocytopenia, Abnormal thymus m... OMIM:242840
Primary Sjögren Syndrome
Normocytic anemia, Renal insufficiency, Chronic active hepatitis, Parotitis, Glomerulonephritis, ... ORPHA:289390
Cushing Disease
Increased urinary cortisol level, Purpura, Adrenal hyperplasia, Pituitary corticotropic cell aden... ORPHA:96253
Alternating Hemiplegia Of Childhood
Failure to thrive, Pallor ORPHA:2131
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Fg Syndrome Type 1
Abnormal large intestine morphology, Malrotation of colon, Cryptorchidism, Pyloric stenosis, Gast... ORPHA:93932
Hennekam Syndrome
Mild postnatal growth retardation, Ectopic kidney, Splenomegaly, Pulmonary lymphangiectasia, Hors... ORPHA:2136
Isotretinoin-Like Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Lymphopenia ORPHA:2306
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Abnormality of the pancreas, Lymphopenia, Anemia ORPHA:935
Reynolds Syndrome
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestas... OMIM:613471
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... ORPHA:90291
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Ileus, Aganglionic megacolon, Microcolon ORPHA:163746
Marburg Hemorrhagic Fever
Elevated hepatic transaminase, Lymphopenia, Reticulocytosis, Renal insufficiency, Petechiae, Orch... ORPHA:99826
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Microcolon, Ileal atresia OMIM:619351
Bannayan-Riley-Ruvalcaba Syndrome
Hamartomatous polyposis, Narrow palate, Abnormal large intestine morphology, Intestinal polyposis ORPHA:109
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Intestinal malrotation, Colon perforation, Pancreatic hypoplasia, Microcolon OMIM:600001
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor OMIM:253280
Restrictive Dermopathy
Aplasia/Hypoplastia of the eccrine sweat glands, Submucous cleft hard palate, Microcolon ORPHA:1662
Megaloblastic Anemia, Folate-Responsive
Episodic hemolytic anemia, Schistocytosis, Folate-responsive megaloblastic anemia, Hypersegmentat... OMIM:601775
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Pallor ORPHA:99125

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 Slc19a1

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 Slc19a1.

No publications found that use IMPC mice or data for Slc19a1.

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
Slc19a1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Slc19a1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Slc19a1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Slc19a1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Slc19a1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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