IMPC phenotypes (allele matching)
- preweaning lethality, complete penetrance / IMPC
C57BL/6N-Cyp11a1tm1b(EUCOMM)Hmgu/WtsiH
| Status | Only small colony available |
| EMMA ID | EM:14317 |
| International strain name | C57BL/6N-Cyp11a1tm1b(EUCOMM)Hmgu/WtsiH |
| Alternative name | HEPD0948_5_A10 |
| Strain type | Targeted Mutant Strains |
| Allele/Transgene symbol | Cyp11a1tm1b(EUCOMM)Hmgu |
| Gene/Transgene symbol | Cyp11a1 |
| Disclaimer | Please note that for EUCOMM and KOMP-CSD mice supplied to the scientific community by INFRAFRONTIER/EMMA:
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Information from provider
| Provider | Wellcome Trust Sanger Institute |
| Provider affiliation | Wellcome Trust Sanger Institute |
| Genetic information | This mouse line originates from EUCOMM ES clone HEPD0948_5_A10. For further details on the construction of this clone see the page at the IMPC portal. The critical exon(s) were flanked by loxP sites, and subsequent cre expression excised this critical sequence resulting in a knockout reporter allele using a cell permeable HTN-Cre as described in doi:10.1007/s11248-013-9764-x. Click here for more information on EUCOMM final vectors. |
| Phenotypic information | Potential phenotyping data in the IMPC portal |
| References | None available |
Information from EMMA
| Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency / Orphanet_168558
- Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency / Orphanet_289548
IMPC phenotypes (gene matching)
- preweaning lethality, complete penetrance / IMPC
MGI phenotypes (gene matching)
- enlarged liver sinusoidal spaces / MGI
- abnormal adrenal gland morphology / MGI
- enlarged adrenal glands / MGI
- enlarged adrenocortical cells / MGI
- abnormal testis morphology / MGI
- small testis / MGI
- abnormal spermatogenesis / MGI
- absent prostate gland / MGI
- hypoactivity / MGI
- abnormal lipid level / MGI
- postnatal growth retardation / MGI
- increased circulating adrenocorticotropin level / MGI
- abnormal circulating sodium level / MGI
- secondary sex reversal / MGI
- no abnormal phenotype detected / MGI
- abnormal seminiferous tubule morphology / MGI
- muscular atrophy / MGI
- abnormal epididymis morphology / MGI
- decreased circulating corticosterone level / MGI
- decreased circulating aldosterone level / MGI
- abnormal circulating potassium level / MGI
- absent scrotum / MGI
- small adrenal glands / MGI
- abnormal vas deferens morphology / MGI
- absent bulbourethral gland / MGI
- absent prostate gland anterior lobe / MGI
- abnormal adrenal gland physiology / MGI
- dilated bile duct / MGI
- abnormal corticosterone level / MGI
- abnormal optic cup morphology / MGI
- abnormal epididymis epithelium morphology / MGI
- hemopericardium / MGI
- reproductive system phenotype / MGI
- abnormal circulating hormone level / MGI
- abnormal food intake / MGI
- abnormal mitochondrion morphology / MGI
- decreased T cell apoptosis / MGI
- abnormal adrenal cortex morphology / MGI
- abnormal adrenocortical cell morphology / MGI
- abnormal adrenal gland zona glomerulosa morphology / MGI
- abnormal adrenal gland zona fasciculata morphology / MGI
- absent adrenal chromaffin cells / MGI
- decreased survivor rate / MGI
- neonatal lethality, complete penetrance / MGI
- neonatal lethality, incomplete penetrance / MGI
- decreased noradrenaline level / MGI
- thin hypoglossal nerve / MGI
- absent segment of posterior cerebral artery / MGI
- retrolental blood / MGI
- decreased adrenaline level / MGI