| Monarch Ortholog Phenotypes
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Human (10 sources):
Age-related nuclear cataract,
Band keratopathy,
Bicarbonate-wasting renal tubular acidosis,
Cataract,
Glaucoma,
Growth delay,
Hyperchloremic acidosis,
Increased red cell osmotic resistance,
Intellectual disability,
Proximal renal tubular acidosis
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Mouse (34 sources):
abnormal ammonia homeostasis,
abnormal blood homeostasis,
abnormal cranium morphology,
abnormal intestine physiology,
abnormal megakaryocyte morphology,
abnormal renal reabsorption,
abnormal renal tubule epithelium morphology,
abnormal spleen B cell follicle morphology,
acidemia,
brittle teeth,
coiled cecum,
decreased birth body size,
decreased body size,
decreased circulating bicarbonate level,
decreased gastrocnemius weight,
decreased hematocrit,
decreased hemoglobin content,
decreased kidney weight,
decreased urine ammonia level,
decreased urine osmolality,
decreased urine pH,
dilated kidney collecting duct,
dilated renal tubules,
homeostasis/metabolism phenotype,
increased long bone epiphyseal plate size,
increased nucleated erythrocyte cell number,
increased spleen red pulp amount,
increased spleen weight,
increased spleen white pulp amount,
increased urine sodium level,
nervous system phenotype,
postnatal lethality, complete penetrance,
small cecum,
vision/eye phenotype
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View all ortholog results at Monarch
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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.