Phenotypes Associated with This Genotype

Genotype
MGI:3629805

• Allelic Composition: Pcsk1^N222D/Pcsk1^N222D
• Genetic Background: C57BL/6-Pcsk1^N222D

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

growth/size/body

increased body weight ( J:109531 )

• from 8 weeks of age, mice display elevated body weight compared to wild-type littermates; at 6 months of age, males are 32% heavier than wild-type littermates and females are 68% heavier

obese ( J:109531 )

• from 8 weeks of age and during the length of the study, mice remain more obese than wild-type controls on a breeder diet (21% calories from fat)

behavior/neurological

polyphagia ( J:109531 )

• over a week, mice eat 13% more than wild-type controls

homeostasis/metabolism

increased circulating leptin level ( J:109531 )

• at 26 weeks, leptin levels are increased in females 94 mg/ml vs control 13 mg/ml)

abnormal metabolism ( J:109531 )

• mice show a trend to decreased (10%) metabolic rate vs controls

endocrine/exocrine glands

decreased testis weight ( J:109531 )

♂ • testes show a significant decrease in weight

adipose tissue

increased white adipose tissue amount ( J:109531 )

• weight difference is due to increase in fat mass in males and females on all diets tested

abnormal inguinal fat pad morphology ( J:109531 )

• there is massive adipocyte hypertrophy with a 10- to 100-fold increase in adipocyte volume compared to wild-type littermates

reproductive system

decreased testis weight ( J:109531 )

♂ • testes show a significant decrease in weight

reduced fertility ( J:109531 )

• males and females reproduce but less frequently compared to controls

muscle

decreased skeletal muscle mass ( J:109531 )

• on normal chow diet, mice exhibit muscle mass reduction

increased skeletal muscle mass ( J:109531 )

• on a breeder diet, mice show increased muscularity

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
obesity		DOID:9970	OMIM:601665	J:109531