Phenotypes Associated with This Genotype

Genotype
MGI:7279194

• Allelic Composition: Pcsk1^em2Irli/Pcsk1^em2Irli
• Genetic Background: C57BL/6J-Pcsk1^em2Irli

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

premature death ( J:324309 )

• most mice die by 4 weeks of age, with only 8 surviving past 4 weeks and none surviving beyond 22 weeks

postnatal lethality, incomplete penetrance ( J:324309 )

• pups rapidly exhibit postnatal decline and lethality, with most succumbing by day 2

growth/size/body

decreased body size ( J:324309 )

• surviving mice are runted and show severe growth impairment

postnatal growth retardation ( J:324309 )

• surviving mice show severe growth impairment

endocrine/exocrine glands

abnormal pancreatic islet morphology ( J:324309 )

• pancreatic islets show an increase in proinsulin

abnormal pituitary gland physiology ( J:324309 )

• pituitary adrenocorticotropin production is severely impaired and pituitary proopiomelanocortin levels are highly elevated, indicating that proopiomelanocortin processing to intact adrenocorticostropin is impaired in the pituitary gland

abnormal pancreas physiology ( J:324309 )

• pancreas exhibits little to no conversion of proinsulin to insulin

homeostasis/metabolism

decreased circulating glucose level ( J:324309 )

• mice exhibit lower blood glucose levels

increased circulating insulin level ( J:324309 )

• plasma insulin levels are elevated

decreased adrenocorticotropin level ( J:324309 )

• pituitary adrenocorticotropin level is severely reduced

• however, alpha-MSH production is unchanged in the pituitary and the brain and corticosterone level is normal

digestive/alimentary system

abnormal intestinal goblet cell morphology ( J:324309 )

• neonatal intestine shows an increase in the goblet cell population

decreased enteroendocrine cell number ( J:324309 )

• neonatal intestine shows a reduction in the number of enteroendocrine cells

nervous system

abnormal pituitary gland physiology ( J:324309 )

• pituitary adrenocorticotropin production is severely impaired and pituitary proopiomelanocortin levels are highly elevated, indicating that proopiomelanocortin processing to intact adrenocorticostropin is impaired in the pituitary gland

cellular

abnormal intestinal goblet cell morphology ( J:324309 )

• neonatal intestine shows an increase in the goblet cell population

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
endocrine system disease		DOID:28		J:324309