MGI phenotypes (allele matching)
B6.129P2-Nr3c1tm3Gsc/Ieg
| Status | Available to order |
| EMMA ID | EM:02123 |
| International strain name | B6.129P2-Nr3c1tm3Gsc/Ieg |
| Alternative name | GRdim |
| Strain type | Targeted Mutant Strains : Knock-in |
| Allele/Transgene symbol | Nr3c1tm3Gsc |
| Gene/Transgene symbol | Nr3c1 |
Information from provider
| Provider | Günther Schütz |
| Provider affiliation | Molecular Biology of the Cell I, German Cancer Research Center |
| Genetic information | Point mutation (A458T) in the glucocorticoid receptor impairing dimerization and therefore Gre-dependent transactivation. |
| Phenotypic information | None. |
| Breeding history | Backcrossed in C57BL/6 for >10 generations. |
| References |
|
Information from EMMA
| Archiving centre | Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH), Oberschleißheim, Germany |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Generalized glucocorticoid resistance syndrome / Orphanet_786
MGI phenotypes (gene matching)
- abnormal liver physiology / MGI
- abnormal adrenal gland morphology / MGI
- enlarged adrenal glands / MGI
- absent adrenal medulla / MGI
- absent adrenergic chromaffin cells / MGI
- enlarged adrenocortical cells / MGI
- abnormal lung morphology / MGI
- abnormal lung development / MGI
- atelectasis / MGI
- thick pulmonary interalveolar septum / MGI
- cyanosis / MGI
- absent circulating adrenaline / MGI
- increased circulating corticosterone level / MGI
- increased circulating adrenocorticotropin level / MGI
- respiratory failure / MGI
- respiratory distress / MGI
- no abnormal phenotype detected / MGI
- abnormal pulmonary alveolus morphology / MGI
- abnormal pulmonary alveolus epithelial cell morphology / MGI
- abnormal alveolocapillary membrane morphology / MGI
- decreased circulating adrenocorticotropin level / MGI
- decreased circulating corticosterone level / MGI
- increased circulating aldosterone level / MGI
- small adrenal glands / MGI
- decreased circulating testosterone level / MGI
- abnormal respiratory system development / MGI
- decreased macrophage cell number / MGI
- pulmonary hyperplasia / MGI
- abnormal surfactant secretion / MGI
- increased susceptibility to experimental autoimmune encephalomyelitis / MGI
- increased mean systemic arterial blood pressure / MGI
- abnormal osteoblast physiology / MGI
- decreased B cell number / MGI
- abnormal blood-brain barrier function / MGI
- abnormal circulating corticosterone level / MGI
- renal/urinary system phenotype / MGI
- adipose tissue phenotype / MGI
- homeostasis/metabolism phenotype / MGI
- growth/size/body region phenotype / MGI
- skeleton phenotype / MGI
- increased renin activity / MGI
- increased lung weight / MGI
- decreased circulating noradrenaline level / MGI
- impaired lung alveolus development / MGI
- increased systemic arterial systolic blood pressure / MGI
- increased circulating angiotensinogen level / MGI
- decreased T cell apoptosis / MGI
- decreased CD4-positive, alpha beta T cell number / MGI
- decreased CD8-positive, alpha-beta T cell number / MGI
- abnormal adrenal cortex morphology / MGI
- enlarged adrenocortical cell nuclei / MGI
- abnormal adrenal gland zona glomerulosa morphology / MGI
- abnormal adrenal gland zona fasciculata morphology / MGI
- abnormal adrenal gland zona reticularis morphology / MGI
- thin adrenal cortex / MGI
- abnormal osteoblast differentiation / MGI
- abnormal adrenal chromaffin cell morphology / MGI
- decreased survivor rate / MGI
- abnormal physiological response to xenobiotic / MGI
- decreased erythroid progenitor cell number / MGI
- abnormal thymocyte apoptosis / MGI
- increased liver triglyceride level / MGI
- increased type II pneumocyte number / MGI
- decreased type I pneumocyte number / MGI
- abnormal branching involved in terminal bronchiole morphogenesis / MGI
- postnatal lethality, complete penetrance / MGI
- neonatal lethality, complete penetrance / MGI
- neonatal lethality, incomplete penetrance / MGI
- perinatal lethality, complete penetrance / MGI
- perinatal lethality, incomplete penetrance / MGI
- decreased noradrenaline level / MGI
- decreased adrenaline level / MGI
Literature references
- DNA binding of the glucocorticoid receptor is not essential for survival.;Reichardt H M, Kaestner K H, Tuckermann J, Kretz O, Wessely O, Bock R, Gass P, Schmid W, Herrlich P, Angel P, Schütz G, ;1998;Cell;93;531-41; 9604929