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Gene: Slc7a5 MGI:1298205

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Gene Summary

Name:
solute carrier family 7 (cationic amino acid transporter, y+ system), member 5
Synonyms:
D0H16S474E,  Gm42049,  LAT1,  TA1

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased basophil cell number Slc7a5em1(IMPC)H HET Early adult 4.74×10-05
increased circulating potassium level Slc7a5em1(IMPC)H HET Early adult 2.32×10-05
increased mean corpuscular volume Slc7a5em1(IMPC)H HET   Early adult 6.81×10-07
preweaning lethality, complete penetrance Slc7a5em1(IMPC)H HOM   Early adult 0.00

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Viewing: all phenotypes
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Viewing: all phenotypes

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 Slc7a5 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 Slc7a5 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Elevated transferrin saturation, Sideroblastic anemia, Decreased mean corpuscular volume,... OMIM:205950
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Anemia, Hypochromic Microcytic, With Iron Overload 1
Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Elevated hepatic iron concentra... OMIM:206100
Familial Pseudohyperkalemia
Stomatocytosis, Hyperkalemia, Reticulocytosis, Episodic hemolytic anemia, Increased mean corpuscu... ORPHA:90044
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume OMIM:252270
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... OMIM:619041
Intrinsic Factor Deficiency
Reduced haptoglobin level, Megaloblastic anemia, Increased RBC distribution width, Increased mean... OMIM:261000
Diamond-Blackfan Anemia 3
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Hyper... OMIM:616689
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia, Hyperkalemia OMIM:141000
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... ORPHA:2133
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Sickle Cell Anemia
Hemolytic anemia, Unconjugated hyperbilirubinemia, Reticulocytosis, Persistence of hemoglobin F, ... ORPHA:232
Bone Marrow Failure And Diabetes Mellitus Syndrome
T-cell acute lymphoblastic leukemias, Pancytopenia, Increased mean corpuscular volume OMIM:620044
Dehydrated Hereditary Stomatocytosis
Increased total bilirubin, Increased mean corpuscular hemoglobin concentration, Congenital hemoly... ORPHA:3202
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Increased total iron binding capacity, Hyperbilirubinemia, Poikilocytosis, Abnormal eryth... ORPHA:98870
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin ORPHA:231249
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Bone Marrow Failure Syndrome 6
Anemia, Lymphopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia OMIM:618849
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decreased mean corpuscular he... ORPHA:3203
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... ORPHA:521
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Macrocytic anemia... OMIM:300946
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anemia, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Anisocytosi... OMIM:616860
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Elevated transferrin saturation, Poikilocytosis, Decreased mean corpuscular volume, Incre... OMIM:615234
Elliptocytosis 3
Decreased mean corpuscular volume, Elliptocytosis, Chronic hemolytic anemia, Pyropoikilocytosis OMIM:617948
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Hypokalemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular vo... OMIM:611590
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anemia, Dysplastic erythropoesis, Reticulocytopenia, Anisopoikilocytosis, Decreased transferrin s... ORPHA:300298
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia, Pancytopenia OMIM:613839
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioninemia, Increased m... OMIM:277410
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
Methylcobalamin Deficiency Type Cble
Hyperhomocystinemia, Hypomethioninemia, Pancytopenia, Macrocytic anemia, Increased mean corpuscul... ORPHA:2169
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Anemia, Congenital hemolytic anemia, Increased serum iron, Unconjugated hyperbilirubinemia, Eleva... ORPHA:766
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Majeed Syndrome
Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Anemia of inadequat... OMIM:609628
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... OMIM:202700
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal mean corpuscular vol... ORPHA:86839
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Elliptocytosis, Decreased serum iron, Poikilocytosis, Decreased mean corpuscular volume, ... OMIM:616959
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperkalemia, Increased circulating renin level, Hyponatremia OMIM:620126
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperkalemia, Increased circulating renin level, Hyponatremia OMIM:620125
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Immunodeficiency 96
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells OMIM:619774
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Iron-Refractory Iron Deficiency Anemia
Hypochromic microcytic anemia, Anisocytosis, Elevated circulating hepcidin concentration, Poikilo... OMIM:206200
Immunodeficiency 60 And Autoimmunity
Splenomegaly, Decreased proportion of memory B cells, Pancytopenia, Decreased basophil count OMIM:618394
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis OMIM:603529
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Systemic Mastocytosis With Associated Hematologic Neoplasm
Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C... ORPHA:98849
Shwachman-Diamond Syndrome
Acute myeloid leukemia, Chronic neutropenia, Leukopenia, Anemia, Neutropenia, Hypoamylasemia, Imp... ORPHA:811
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612562
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
Malignant Hyperthermia, Susceptibility To, 1
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:145600
Beta-Thalassemia Intermedia
Abnormality of iron homeostasis, Increased HbA2 hemoglobin, Elevated hepatic iron concentration, ... ORPHA:231222
Glycogen Storage Disease Due To Aldolase A Deficiency
Hyperkalemia, Hemolytic anemia, Elevated creatine kinase after exercise ORPHA:57
Dyskeratosis Congenita, Autosomal Dominant 1
Leukopenia, Anemia, Lymphopenia, Increased mean corpuscular volume, Thrombocytopenia, Aplastic an... OMIM:127550
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Increased circulating renin level, Hyponatremia OMIM:610600
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Increased circulating renin level, Hyponatremia OMIM:203400
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
Pseudohypoaldosteronism Type 2
Hyperkalemia ORPHA:757
Pseudohypoaldosteronism, Type Iic
Decreased circulating renin level, Hyperchloremia, Hyperkalemia OMIM:614492
Liddle Syndrome 3
Hypokalemia OMIM:618126
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis OMIM:301083
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Blackfan-Diamond Anemia
Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Pure red cell aplasia, Erythroid hypoplasi... ORPHA:124
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Increased circulating renin level, Hyponatremia OMIM:177735
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyperkalemia, Hyponatremia OMIM:264350
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Increased circulating renin level, Hyponatremia ORPHA:556037
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Increased circulating renin level, Hyponatremia ORPHA:556030
Hyperkalemic Periodic Paralysis
Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration ORPHA:682
Corticosteroid-Binding Globulin Deficiency
Hypokalemia, Anemia OMIM:611489
Congenital Isolated Acth Deficiency
Hyperkalemia, Hyponatremia ORPHA:199296
Dominant Beta-Thalassemia
Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A, Decreased mean corpuscular ... ORPHA:231226
Elliptocytosis 2
Elliptocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis OMIM:130600
Beta-Thalassemia Major
Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A, Anisopoikilocytosis, Decrea... ORPHA:231214
Mirage Syndrome
Leukopenia, Anemia, Hyperkalemia, Lymphopenia, Thrombocytopenia, Hyponatremia, Hypoplastic spleen OMIM:617053
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia OMIM:614736
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Increased serum prostaglandin E2, Hypokalemia, Abnormal magnesium concentration, Increased circul... OMIM:241150
Late-Onset Isolated Acth Deficiency
Hyperuricemia, Normocytic anemia, Hyperkalemia, Hypercalcemia, Macrocytic anemia, Eosinophilia, H... ORPHA:199299
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Stomatocytosis, Hemolytic anemia, Hyperkalemia, Splenomegaly, Conjugated hyperbilirubinemia OMIM:608885
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Unconjugated hyperbilirubinemia, Elliptocytosis, Reticulocytosis, Hepatosplenom... OMIM:618278
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypokalemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Increased circulating renin level, Hyponatremia ORPHA:171876
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hyperuricemia, Hypocalcemia, Hyperkalemia, Elevated circulating creatine kinas... ORPHA:94093
Renal Hypoplasia, Bilateral
Anemia, Hyperkalemia, Hyponatremia ORPHA:97362
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hypocalcemia, Hyperkalemia, Hyperphosphatemia ORPHA:99845
Liddle Syndrome 2
Decreased circulating renin level, Hypokalemia OMIM:618114
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Hypomagnesemia ORPHA:564178
Renal Tubular Acidosis, Distal, 1
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia OMIM:179800
Liddle Syndrome
Hypokalemia ORPHA:526
Familial Hypoaldosteronism
Hyperkalemia, Increased circulating renin level, Hyponatremia ORPHA:427
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia OMIM:300971
Acute Adrenal Insufficiency
Hyperuricemia, Normocytic anemia, Hyperkalemia, Increased circulating renin level, Hypercalcemia,... ORPHA:95409
Birk-Landau-Perez Syndrome
Increased circulating creatine kinase MB isoform, Hyperkalemia OMIM:617595
Castleman Disease
Decreased mean corpuscular volume, Thrombocytopenia, Elevated circulating C-reactive protein conc... ORPHA:160
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Anemia, Hypocalcemia, Hypomagnesemia OMIM:175500
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Anemia, Hypersplenism, Hyperkalemia, Hepatosplenomegaly, Bone-marrow foam c... ORPHA:275761
Eisenmenger Syndrome
Brain abscess, Hyperuricemia, Hypochromic microcytic anemia, Abnormal B-type natriuretic peptide ... ORPHA:97214
Hypomagnesemia 2, Renal
Hypokalemia, Hypomagnesemia OMIM:154020
Colchicine Poisoning
Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration, Leukocytosis, Hyponatremia, Hypo... ORPHA:31824
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hypokalemia, Hyperamylasemia OMIM:604278
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyperkalemia, Autoimmune thrombocytopenia, Severe B lymphocytopenia, Hyponatremia, Abnormal lymph... ORPHA:293978
Addison Disease
Hyperuricemia, Normocytic anemia, Hyperkalemia, Increased circulating renin level, Thiamine-respo... ORPHA:85138
Liddle Syndrome 1
Decreased circulating renin level, Hypokalemia OMIM:177200
Infection-Related Hemolytic Uremic Syndrome
Brain abscess, Hemolytic anemia, Hypocalcemia, Hyperkalemia, Leukocytosis, Hyponatremia, Thromboc... ORPHA:544482
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypokalemia, Hypomagnesemia OMIM:618314
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Unconjugated hyperbilirubinemia, Microangiopathic hemolytic anemia, Hypokalemia, Reticulocytosis,... ORPHA:90038
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyperkalemia, Increased circulating renin level, Hyponatremia ORPHA:90791
Malignant Hyperthermia Of Anesthesia
Hyperphosphatemia, Hyperkalemia, Elevated creatine kinase after exercise ORPHA:423
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Mildly elevated creatine kinase, ... ORPHA:79102
Familial Glucocorticoid Deficiency
Hyperkalemia, Hyponatremia ORPHA:361
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia OMIM:602722
Juvenile Polyposis Syndrome
Hypokalemia, Anemia, Hypoalbuminemia OMIM:174900
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Hypokalemia OMIM:218030
Hemorrhagic Fever-Renal Syndrome
Anemia, Hyperphosphatemia, Hyperkalemia, Leukocytosis, Elevated circulating creatinine concentrat... ORPHA:340
Renal Tubular Acidosis Iii
Hypokalemia OMIM:267200
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia OMIM:188580
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Hyponatremia ORPHA:90790
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Mildly elevated creatine kinase ORPHA:681
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia OMIM:613239
Ethylene Glycol Poisoning
Hypocalcemia, Hyperkalemia ORPHA:31826
Exercise-Induced Malignant Hyperthermia
Hyperphosphatemia, Hypocalcemia, Hyperkalemia, Elevated circulating creatine kinase concentration... ORPHA:466650
Diarrhea 1, Secretory Chloride, Congenital
Increased circulating renin level, Hypokalemia, Hypochloremia, Hyponatremia OMIM:214700
Hyperaldosteronism, Familial, Type Iii
Decreased circulating renin level, Hypokalemia OMIM:613677
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Increased circulating renin level, Hyperkalemia, Abnormal circulating cholesterol concentration, ... ORPHA:168558
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyperkalemia, Hyponatremia OMIM:201810
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Increased circulating renin level, Hyperkalemia, Abnormal circulating cholesterol concentration, ... ORPHA:289548
Fanconi Renotubular Syndrome 1
Hypokalemia, Hypophosphatemia OMIM:134600
Fanconi-Bickel Syndrome
Hypokalemia, Hypophosphatemia, Hypouricemia OMIM:227810
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration, Hypokalemia, Elevated circulating alpha-fetoprotei... OMIM:613095
Familial Hyperaldosteronism Type I
Hypokalemia ORPHA:403
East Syndrome
Hypokalemia, Hypomagnesemia, Increased circulating renin level ORPHA:199343
Familial Hyperaldosteronism Type Ii
Hypokalemia ORPHA:404
Hepatocellular Carcinoma
Anemia, Liver abscess, Hypokalemia, Hyperbilirubinemia, Polycythemia, Thrombocytosis, Hypercalcem... ORPHA:88673
Romano-Ward Syndrome
Hypokalemia ORPHA:101016
Osteootohepatoenteric Syndrome
Hypokalemia, Anemia, Increased serum bile acid concentration OMIM:619377
Cystinosis
Hypokalemia, Hypophosphatemia ORPHA:213
Ectopic Aldosterone-Producing Tumor
Decreased circulating renin level, Hypokalemia ORPHA:231632
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia OMIM:613090
Familial Hyperaldosteronism Type Iii
Hypokalemia ORPHA:251274
Primary Unilateral Adrenal Hyperplasia
Decreased circulating renin level, Hypokalemia ORPHA:231580
Cholera
Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Hyponatremia ORPHA:173
Pearson Syndrome
Anemia, Hyperalaninemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Reticulocytosis, Pancytopen... ORPHA:699
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Decreased circulating renin level, Hypokalemia ORPHA:231625
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Calcinosis, Hypokalemia, Hyponatremia, Hypocalcemia, Splenomegaly OMIM:617913
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Hypokalemia ORPHA:320
Immunodeficiency 87 And Autoimmunity
Decreased CD4:CD8 ratio, Hemolytic anemia, Hypokalemia, Lymphopenia, Decreased proportion of CD4-... OMIM:619573
Juvenile Nephropathic Cystinosis
Hypocalcemic tetany, Hypophosphatemia, Hypokalemia, Hyponatremia, Elevated circulating creatinine... ORPHA:411634
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyperkalemia, Hyperlipidemia, Hyponatremia ORPHA:293987
Helix Syndrome
Hypokalemia, Hypermagnesemia OMIM:617671
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypokalemia ORPHA:369929
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Decreased circulating renin level, Hypokalemia OMIM:615474
Mercury Poisoning
Hypokalemia ORPHA:330021
Marburg Hemorrhagic Fever
Leukopenia, Hypokalemia, Reticulocytosis, Lymphopenia, Elevated circulating creatine kinase conce... ORPHA:99826
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hypochloremia, Hyperkalemia, Hyponatremia ORPHA:90794
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypokalemia, Hypomagnesemia, Increased circulating renin level OMIM:612780
Bartter Syndrome, Type 3
Hyperchloriduria, Hypokalemia, Increased circulating renin level OMIM:607364
Pituitary Adenoma 4, Acth-Secreting
Hypokalemia OMIM:219090
Infantile Nephropathic Cystinosis
Hypokalemia, Hypophosphatemia, Abnormal blood ion concentration ORPHA:411629
Gitelman Syndrome
Hypokalemia, Hypomagnesemia, Increased circulating renin level OMIM:263800
Primary Fanconi Renotubular Syndrome
Hypophosphatemia, Hypokalemia, Decreased plasma carnitine, Hypophosphatemic rickets, Bicarbonatur... ORPHA:3337
Vipoma
Hypokalemia, Hypercalcemia, Normochromic anemia ORPHA:97282
Bartter Syndrome, Type 1, Antenatal
Increased serum prostaglandin E2, Hypokalemia, Increased circulating renin level, Hyperchloriduri... OMIM:601678
Adrenocortical Carcinoma
Hypokalemia ORPHA:1501
Andersen Cardiodysrhythmic Periodic Paralysis
Hypokalemia OMIM:170390
Cystinosis, Nephropathic
Reduced blood urea nitrogen, Decreased plasma carnitine, Hypophosphatemia, Hypokalemia, Hypophosp... OMIM:219800
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia OMIM:602522
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating renin level, Hypokalemia ORPHA:90795
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating renin level, Hyperkalemia, Hyponatremia OMIM:201750
Distal Renal Tubular Acidosis
Hypokalemia, Hemolytic anemia ORPHA:18
Bartter Syndrome Type 4
Hypokalemia, Increased circulating renin level, Hypochloremia, Hyponatremia, Hypomagnesemia ORPHA:89938
Gitelman Syndrome
Hypokalemia, Hypermagnesemia, Iron deficiency anemia, Hypocalcemia, Hypomagnesemia ORPHA:358
Oculocerebrorenal Syndrome Of Lowe
Anemia, Hyponatremia, Hypophosphatemia, Hypokalemia, Hypercholesterolemia, Hypoammonemia, Thrombo... ORPHA:534
Rabson-Mendenhall Syndrome
Hypokalemia, Increased C-peptide level ORPHA:769
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating renin level, Hypokalemia ORPHA:90793
Bartter Syndrome, Type 2, Antenatal
Increased serum prostaglandin E2, Hypokalemia, Increased circulating renin level, Hyperchloriduri... OMIM:241200
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Decreased circulating renin level, Hypokalemia OMIM:202010
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypokalemia, Hyponatremia OMIM:618426
Scorpion Envenomation
Hypokalemia, Increased circulating creatine kinase MB isoform, Increased circulating NT-proBNP co... ORPHA:466677
Nelson Syndrome
Hypokalemia ORPHA:199244
Generalized Glucocorticoid Resistance Syndrome
Hypokalemia ORPHA:786
Tsh-Secreting Pituitary Adenoma
Hypokalemia ORPHA:91347
Proximal Renal Tubular Acidosis
Hypokalemia, Bicarbonaturia ORPHA:47159
Leprechaunism
Hypokalemia, Increased circulating renin level ORPHA:508
Vascular Ehlers-Danlos Syndrome
Hypokalemia ORPHA:286

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 Slc7a5

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 Slc7a5.

No publications found that use IMPC mice or data for Slc7a5.

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MGI Allele Allele Type Produced
Slc7a5em2(IMPC)H Exon Deletion Mice
Slc7a5tm85615(L1L2_Pgk_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Slc7a5em1(IMPC)H Exon Deletion Mice
Slc7a5tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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