slc12a1 Phenotypes

Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.

Phenotypes

Gene Literature (96)

Nucleotides (125)

Interactants (438)

XB-GENEPAGE-479924

Gene Symbol: slc12a1 Gene Name: solute carrier family 12 member 1

Expression Phenotypes Gene expression phenotype annotations where the gene of interest has been disrupted (manipulated) or is the gene assayed (assayed). Computed annotations are derived from differential expression analysis from Xenbase processed GEO data with the criteria of a TPM >= 1, FDR <= 0.05 and an absolute LogFC >= 2.
Manual annotations: slc12a1 assayed (3 sources)
Computed annotations: slc12a1 assayed (5 sources)

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (41 sources): Chondrocalcinosis, Constipation, Dehydration, Diarrhea, Failure to thrive, Fetal polyuria, Fever, Generalized muscle weakness, Global developmental delay, Hyperactive renin-angiotensin system, Hyperaldosteronism, Hypercalcemia, Hypercalciuria, Hyperchloriduria, Hyperparathyroidism, Hyperprostaglandinuria, Hypochloremia, Hypokalemia, Hypokalemic metabolic alkalosis, Hypomagnesemia, Hyposthenuria, Increased circulating renin level, Increased serum prostaglandin E2, Increased urinary potassium, Intellectual disability, Low-to-normal blood pressure, Muscle spasm, Nephrocalcinosis, Osteopenia, Paresthesia, Polyhydramnios, Polyuria, Premature birth, Renal juxtaglomerular cell hypertrophy/hyperplasia, Renal potassium wasting, Renal salt wasting, Seizure, Short stature, Small for gestational age, Tetany, Vomiting [+]
Mouse (33 sources): abnormal blood homeostasis, abnormal circulating magnesium level, abnormal kidney morphology, abnormal mineral level, abnormal renal reabsorption, abnormal renal tubule morphology, abnormal renal water reabsorption, abnormal tubuloglomerular feedback response, abnormal urine urea nitrogen level, behavior/neurological phenotype, decreased circulating glucose level, decreased hematocrit, decreased hemoglobin content, decreased mean systemic arterial blood pressure, decreased skin turgor, decreased systemic arterial systolic blood pressure, decreased tubuloglomerular feedback response, decreased urine creatinine level, decreased urine osmolality, decreased urine sodium level, increased circulating alkaline phosphatase level, increased circulating amylase level, increased circulating atrial natriuretic factor, increased circulating creatinine level, increased creatinine clearance, increased renin activity, increased urine creatinine level, increased urine osmolality, increased urine sodium level, kidney papillary atrophy, postnatal lethality, complete penetrance, pyelitis, reproductive system phenotype [+]
View all ortholog results at Monarch