Mouse Genome Informatics
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype

Histological analysis of the adrenal gland of Mc2rtm1Dchi/Mc2rtm1Dchi mice

• three-quarters of mice die prior to weaning with most dying within the first 48 hours after birth likely due to hypoglycemia with decreased gluconeogenesis in the liver and defective neonatal nutritional adaptatio
• while most mice that display reduced glucose levels die by day 7 mice that maintained normal glucose levels survive

• 0.12+/-0.02 ng/ml compared to 0.72+/-0.14 ng/ml in heterozygotes and 0.59+/-0.08 ng/ml in wild-type mice
• however, norephrinepherine and dopamine levels are normal
• corticosterone serum levels are undetectable in male mice
• fasting mice do not display increased corticosterone levels as wild-type mice do
• 104+/-25 pg/ml compared to 343+/-103 pg/ml in wild-type mice
• 1394+/-89 pg/ml compared to 370+/-50 pg/ml in heterozygotes and 281+/-106 pg/ml in wild-type mice
• response to adrenocorticotropin is defective
• blood glucose levels decline faster after a 36-hour fast compared to in wild-type mice (45.8+/-11.7 mg/dl compared to 79.2+/-9.5 mg/dl in wild-type mice)
• at P0.5, 13 of 14 mice are hypoglycemic and 12 of 14 mice had glucose levels below 20 mg/dl
• however, while most mice that display reduced glucose levels die by day 7 mice maintained normal glucose levels survive
• gluconeogenesis is impaired

endocrine/exocrine glands
• in adulthood, the thickness of the adrenal capsule is increased compared to in wild-type mice
• in adulthood, zona fasciculate cells exhibit an increase number of lipid droplets and inactive mitochondrial compared to wild-type mice
• however, zona glomerulosa cells are normal and adrenal glands of newborn mice are normal
• 0.58+/-0.02 mg per pair compared to 2.24+/-0.18 mg per pair in wild-type mice
• while cell number is not reduced cell size is compared to in wild-type adrenal glands

• some mice are pale and lethargic at birth

adipose tissue

cardiovascular system
• heart rate is decreased
• however, blood pressure is normal

hematopoietic system

immune system


Mouse Models of Human Disease
Glucocorticoid Deficiency 1; GCCD1 202200 J:127445