Symbol
Name
ID

Pcsk1
proprotein convertase subtilisin/kexin type 1
MGI:97511

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 resting energy expenditure	Hypoglycemic seizures	Reactive hypoglycemia	Hyperinsulinemia	Hypoinsulinemia	Decreased circulating cortisol level	Elevated circulating proinsulin concentration
Disease(s) Associated with PCSK1	Decreased resting energy expenditure	Hypoglycemic seizures	Reactive hypoglycemia	Hyperinsulinemia	Hypoinsulinemia	Decreased circulating cortisol level	Elevated circulating proinsulin concentration
obesity
proprotein convertase 1/3 deficiency

Mouse Phenotypes

homeostasis/metabolism phenotype

increased susceptibility to diet-induced obesity

decreased circulating glucose level

hypoglycemia

decreased circulating glucagon level

decreased circulating insulin level

increased circulating insulin level

increased circulating leptin level

decreased circulating growth hormone level

increased circulating interferon-gamma level

increased circulating interleukin-1 beta level

increased circulating interleukin-10 level

increased circulating interleukin-12 level

increased circulating interleukin-6 level

increased circulating tumor necrosis factor level

abnormal glucose tolerance

impaired glucose tolerance

insulin resistance

abnormal hormone level

decreased adrenocorticotropin level

abnormal metabolism

increased susceptibility to xenobiotic induced morbidity/mortality

Availability

Mouse Genotype

Pcsk1^em2Irli/Pcsk1^em2Irli

Pcsk1^mpc242H/Pcsk1^mpc242H

Pcsk1^N222D/Pcsk1^N222D

Pcsk1^tm1Dfs/Pcsk1^tm1Dfs

Pcsk1^tm1Dfs/Pcsk1⁺

Pcsk1^tm1Mbi/Pcsk1⁺

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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