Phenotypes associated with this allele

• Allele Symbol: Nr3c1^tm2.1Gsc
• Allele Name: targeted mutation 2.1, Gunther Schutz
• Allele ID: MGI:1931328
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Nr3c1^tm2.1Gsc/Nr3c1^tm2.1Gsc	involves: 129P2/OlaHsd	MGI:3817778
hm2	Nr3c1^tm2.1Gsc/Nr3c1^tm2.1Gsc	involves: 129P2/OlaHsd * 129X1/SvJ	MGI:4455055
ht3	Nr3c1^tm2.1Gsc/Nr3c1^+	B6.129P2-Nr3c1^tm2.1Gsc	MGI:3817865

Genotype
MGI:3817778

hm1

• Allelic Composition: Nr3c1^tm2.1Gsc/Nr3c1^tm2.1Gsc
• Genetic Background: involves: 129P2/OlaHsd

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

mortality/aging

neonatal lethality, complete penetrance ( J:54931 )

• all mice die shortly after birth

endocrine/exocrine glands

abnormal adrenal chromaffin cell morphology ( J:54931 )

• adrenal chromaffin cells exhibit reduced TH, PNMT and chromogranin B immunoreactivity compared to in wild-type mice

• adrenal chromaffin cells fail to express sympathetic neuronal markers unlike in wild-type mice

• however, the number of chromaffin cells, volume density and granule diameter are normal

homeostasis/metabolism

absent circulating adrenaline ( J:54931 )

decreased circulating noradrenaline level ( J:54931 )

hematopoietic system

decreased erythroid progenitor cell number ( J:58790 )

• E14.5 fetal liver cultures fail to exhibit outgrowths of erythroid progenitor cells as do wild-type livers

nervous system

abnormal adrenal chromaffin cell morphology ( J:54931 )

• adrenal chromaffin cells exhibit reduced TH, PNMT and chromogranin B immunoreactivity compared to in wild-type mice

• adrenal chromaffin cells fail to express sympathetic neuronal markers unlike in wild-type mice

• however, the number of chromaffin cells, volume density and granule diameter are normal

Genotype
MGI:4455055

hm2

• Allelic Composition: Nr3c1^tm2.1Gsc/Nr3c1^tm2.1Gsc
• Genetic Background: involves: 129P2/OlaHsd * 129X1/SvJ

skeleton

skeleton phenotype ( J:160669 )

N • relative to wild-type, mice do not display differences in cartilage or calcified tissue; mice show similar bone mineral densities as wild-type and have no gross alterations in growth plate dimension or amount of calcified bone

N • osteoblast differentiation is unaffected by this mutation

abnormal osteoblast differentiation ( J:160669 )

• unlike wild-type cells, differentiation is not repressed by dexamethasone

abnormal osteoblast physiology ( J:160669 )

• proliferation of preconfluent preosteoblasts from neonatal calvaria is lower in culture compared to wild-type cells; numbers of postconfluential cells are not affected by dexamethasone treatment in contrast to reduced numbers of wild-type cells in culture

• treatment with dexamethasone does not affect mutant cells but completely inhibits osteoblast proliferation in cultures of wild-type cells; apoptosis is not induced with dexamethasone treatment in contrast to wild-type cultures

• alkaline phosphatase activity and matrix mineralization in unaffected by dexamethasone treatment in mutants in contrast to the inhibition observed in wild-type

cellular

abnormal osteoblast differentiation ( J:160669 )

• unlike wild-type cells, differentiation is not repressed by dexamethasone

abnormal osteoblast physiology ( J:160669 )

• proliferation of preconfluent preosteoblasts from neonatal calvaria is lower in culture compared to wild-type cells; numbers of postconfluential cells are not affected by dexamethasone treatment in contrast to reduced numbers of wild-type cells in culture

• treatment with dexamethasone does not affect mutant cells but completely inhibits osteoblast proliferation in cultures of wild-type cells; apoptosis is not induced with dexamethasone treatment in contrast to wild-type cultures

• alkaline phosphatase activity and matrix mineralization in unaffected by dexamethasone treatment in mutants in contrast to the inhibition observed in wild-type

Genotype
MGI:3817865

ht3

• Allelic Composition: Nr3c1^tm2.1Gsc/Nr3c1⁺
• Genetic Background: B6.129P2-Nr3c1^tm2.1Gsc

immune system

decreased T cell apoptosis ( J:126427 )

• the dose-response curve of glucocorticoid induced T lymphocyte apoptosis is shifted to higher concentrations compared to in wild-type mice

increased susceptibility to experimental autoimmune encephalomyelitis ( J:137157 )

• when subjected to a MOG induced model of experimental autoimmune encephalitis, mice exhibit increased clinical score, resistance to the beneficial effects of dexamethasone treatment and increased T cell and macrophage infiltration compared to in similarly treated wild-type mice

• mice subjected to MOG induced model of experimental autoimmune encephalitis exhibit decreased blood brain barrier integrity

nervous system

abnormal blood-brain barrier function ( J:137157 )

• mice subjected to MOG induced model of experimental autoimmune encephalitis exhibit decreased blood brain barrier integrity

cardiovascular system

abnormal blood-brain barrier function ( J:137157 )

• mice subjected to MOG induced model of experimental autoimmune encephalitis exhibit decreased blood brain barrier integrity

cellular

decreased T cell apoptosis ( J:126427 )

• the dose-response curve of glucocorticoid induced T lymphocyte apoptosis is shifted to higher concentrations compared to in wild-type mice

hematopoietic system

decreased T cell apoptosis ( J:126427 )

• the dose-response curve of glucocorticoid induced T lymphocyte apoptosis is shifted to higher concentrations compared to in wild-type mice