About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:3762956
Allelic
Composition
Nr3c1tm1Gsc/Nr3c1tm1Gsc
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nr3c1tm1Gsc mutation (0 available); any Nr3c1 mutation (35 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• Background Sensitivity: on a mixed genetic background, most homozygous mice die shortly after birth with a few (4.5%) survivors present at 4 weeks of age; on a 129 isogenic background, all homozygous mice die at birth

endocrine/exocrine glands
• overall, adrenals appear disorganized
• normal formation of the zona glomerulosa
• the expression of steroid biosynthetic enzymes is elevated 2-3 fold or more
• hypertrophy, with increased production of corticosterone
• hypertrophy, with increased production of corticosterone
• prominent hypertrophy and possible hyperplasia of adrenal cortical cells, apparent by day 15 p.c.
• cells are enlarged 2-3 fold
• at E18.5, a small number of tyrosine hydroxylase (TH)-expressing chromaffin cells are scattered among the enlarged cells of the cortex instead of in the medulla
• these cells do not express phenylethanolamine N-methyltransferase (PNMT) suggesting that these are noradrenergic chromaffin cells
• at E13.5 and E15.5, a greatly reduced number of chromaffin cells are present in adrenal glands in mutant embryos
• among the scattered chromaffin cells present in the cortex, these do not express phenylethanolamine N-methyltransferase (PNMT) suggesting that these are noradrenergic chromaffin cells and that adrenergic cells are missing
• only noradrenaline-specific chromaffin granules are present in chromaffin cells
• no central medulla of chromaffin cells is present in mice at E18.5
• in surviving adults, the medullary region is replaced by a mass of white adipose and loose, highly vascularized connective tissue
• adrenal glands are approximately twice the size of controls

homeostasis/metabolism
• total plasma level is increased 2-3 fold
• total plasma levels are increased more than 20 fold
• at E18.5, mice appear cyanotic
• mutant adrenal glands contain no adrenaline
• mutant adrenals contain a reduced amount of noradrenaline

respiratory system
• severe at birth, with little or no inflation of the lungs in dying animals
• despite defects in branching morphogenesis of the bronchioles and alveoli, expression of surfactant protein genes in the developing respiratory epithelium and in the developing lung is similar to controls
• the number of type II alveolar cells is similar to controls
• a reduction in the level of expression of amiloride-sensitive Na+ channel mRNA is seen; this may account for a reduction in sodium transport and water removal from the lungs before birth
• impaired development of terminal bronchioles
• impaired development of alveoli
• at birth, homozygous mice exhibit respiratory distress

liver/biliary system
• at birth, a reduction in the activation of gluconeogenic enzymes is seen, including G6pc (glucose-6-phosphatase), Tat (tyrosine aminotransferase) and Sds (serine dehydratase)

nervous system
• at E18.5, a small number of tyrosine hydroxylase (TH)-expressing chromaffin cells are scattered among the enlarged cells of the cortex instead of in the medulla
• these cells do not express phenylethanolamine N-methyltransferase (PNMT) suggesting that these are noradrenergic chromaffin cells
• at E13.5 and E15.5, a greatly reduced number of chromaffin cells are present in adrenal glands in mutant embryos
• among the scattered chromaffin cells present in the cortex, these do not express phenylethanolamine N-methyltransferase (PNMT) suggesting that these are noradrenergic chromaffin cells and that adrenergic cells are missing
• only noradrenaline-specific chromaffin granules are present in chromaffin cells


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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
12/17/2024
MGI 6.24
The Jackson Laboratory