MGI phenotypes (allele matching)
B6.129P2-Nr3c1tm3Gsc/Ieg
| Status | Available to order |
| EMMA ID | EM:02123 |
| Citation information | RRID:IMSR_EM:02123 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information. |
| 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