Symbol
Name
ID

Hnf1a
HNF1 homeobox A
MGI:98504

Phenotype annotations related to homeostasis/metabolism

*	Aspects of the system are reported to show a normal phenotype.
	Darker colors indicate more annotations

Human Phenotypes

Decreased level of 1,5 anhydroglucitol in serum

Increased LDL cholesterol concentration

Hypercholesterolemia

Hypertriglyceridemia

Elevated circulating creatinine concentration

Abnormal circulating C-peptide concentration

Elevated circulating hepatic transaminase concentration

Hyperglycemia

Neonatal hypoglycemia

Glucose intolerance

Diabetes mellitus

Insulin-resistant diabetes mellitus

Transient neonatal diabetes mellitus

Maturity-onset diabetes of the young

Type I diabetes mellitus

Type II diabetes mellitus

Impaired glucose tolerance

Abnormal oral glucose tolerance

Hyperinsulinemic hypoglycemia

Insulin resistance

Ketoacidosis

Edema

Pulmonary edema

Glycosuria

Proteinuria

Abnormal circulating insulin concentration

Hypoinsulinemia

Disease(s) Associated with HNF1A

coronary artery disease

familial hepatic adenoma

maturity-onset diabetes of the young

maturity-onset diabetes of the young type 3

pre-eclampsia

type 1 diabetes mellitus

type 1 diabetes mellitus 20

type 2 diabetes mellitus

Mouse Phenotypes

homeostasis/metabolism phenotype

decreased insulin secretion

argininuria

abnormal circulating amino acid level

aminoaciduria

increased circulating ammonia level

increased circulating bilirubin level

increased circulating glucose level

hyperglycemia

decreased circulating insulin level

decreased circulating insulin-like growth factor I level

increased circulating growth hormone level

increased circulating cholesterol level

increased circulating alanine transaminase level

increased circulating aspartate transaminase level

abnormal energy homeostasis

abnormal renal glucose reabsorption

increased urine glucose level

increased cholesterol level

abnormal urine homeostasis

abnormal urine calcium level

increased urine phosphate level

increased urine uric acid level

oroticaciduria

Availability

Mouse Genotype

Hnf1a^tm1.1Ylee/Hnf1a^tm1.1Ylee

Hnf1a^tm1Mya/Hnf1a^tm1Mya

Hnf1a^tm2Mya/Hnf1a^tm2Mya

Hnf1a^tm1.1Ylee/Hnf1a^tm2Ylee

Hnf1a^tm1.1Ylee/Hnf1a^tm2Ylee
Speer6-ps1^{Tg(Alb-cre)21Mgn}/? (conditional)

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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