hnf1b Phenotypes

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Phenotypes

Gene Literature (53)

Nucleotides (105)

Interactants (818)

XB-GENEPAGE-485651

Gene Symbol: hnf1b Gene Name: HNF1 homeobox B

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: hnf1b assayed (34 sources)
Computed annotations: hnf1b assayed (19 sources)

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (66 sources): Abnormal renal morphology, Abnormality of alkaline phosphatase level, Abnormality of endocrine pancreas physiology, Abnormality of exocrine pancreas physiology, Abnormality of the genital system, Abnormality of the kidney, Absent vas deferens, Acute kidney injury, Aplasia/Hypoplasia of the pancreas, Arthritis, Atretic vas deferens, Bicornuate uterus, Biliary tract abnormality, Cerebral cortical atrophy, Chondrocalcinosis, Decreased numbers of nephrons, Decreased waist to hip ratio, Diabetes mellitus, Elevated circulating creatinine concentration, Elevated circulating hepatic transaminase concentration, Epididymal cyst, Exocrine pancreatic insufficiency, Generalized muscle weakness, Global developmental delay, Glomerulopathy, Glucose intolerance, Glycosuria, Gout, Hearing impairment, Hepatic steatosis, Horseshoe kidney, Hyperuricemia, Hypocalciuria, Hypokalemia, Hypomagnesemia, Hypoplasia of the uterus, Hypospadias, Hypothyroidism, Impaired glucose tolerance, Insulin resistance, Intellectual disability, Jaundice, Mandibular prognathia, Maturity-onset diabetes of the young, Multicystic kidney dysplasia, Multiple glomerular cysts, Nephrolithiasis, Pancreatic hypoplasia, Papillary cystadenoma of the epididymis, Polydipsia, Proteinuria, Pyloric stenosis, Reduced sperm motility, Renal Fanconi syndrome, Renal agenesis, Renal cell carcinoma, Renal cyst, Renal hypoplasia, Renal insufficiency, Renal magnesium wasting, Seizure, Stage 5 chronic kidney disease, Type II diabetes mellitus, Unilateral renal agenesis, Ureteropelvic junction obstruction, obsolete Joint hyperflexibility [+]
Mouse (40 sources): abnormal bile duct physiology, abnormal cystic duct morphology, abnormal developmental patterning, abnormal ectoderm development, abnormal embryonic epiblast morphology, abnormal embryonic tissue morphology, abnormal extraembryonic endoderm formation, abnormal extraembryonic tissue morphology, abnormal extrahepatic bile duct morphology, abnormal gallbladder epithelium morphology, abnormal hepatobiliary system morphology, abnormal inner cell mass morphology, abnormal interlobular bile duct morphology, abnormal intrahepatic bile duct morphology, abnormal kidney morphology, abnormal lipid homeostasis, abnormal loop of Henle morphology, abnormal metanephros morphology, abnormal primitive endoderm morphology, abnormal proximal convoluted tubule morphology, abnormal renal tubule morphology, abnormal visceral endoderm morphology, absent blastocoele, absent ectoplacental cavity, absent parietal endoderm, absent proamniotic cavity, absent visceral endoderm, decreased body size, decreased embryo size, disorganized embryonic tissue, disorganized extraembryonic tissue, embryonic growth arrest, embryonic growth retardation, embryonic lethality between implantation and somite formation, complete penetrance, failure to gastrulate, muscular atrophy, postnatal lethality, complete penetrance, premature death, renal glomerulus cyst, renal/urinary system phenotype [+]
View all ortholog results at Monarch