- thrombocytopenia / IMPC
- abnormal retina vasculature morphology / IMPC
- increased mean corpuscular hemoglobin / IMPC
- decreased circulating phosphate level / IMPC
- preweaning lethality, complete penetrance / IMPC
- embryonic lethality prior to tooth bud stage / IMPC
- increased heart weight / IMPC
- abnormal behavior / IMPC
- decreased circulating glucose level / IMPC
B6N.129-Rasa1tm1Wid/Cnbc
| Status | Available to order |
| EMMA ID | EM:06226 |
| Citation information | RRID:IMSR_EM:06226 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 | B6N.129-Rasa1tm1Wid/Cnbc |
| Alternative name | C57BL/6N-Rasa1tm(delta)D455AWid |
| Strain type | Targeted Mutant Strains : Knock-in |
| Allele/Transgene symbol | Rasa1tm1Wid |
| Gene/Transgene symbol | Rasa1 |
Information from provider
| Provider | Christian Widmann |
| Provider affiliation | Physiology, Lausanne University |
| Genetic information | This is a knock-in mutation. The caspase-3 recognition site (DTVDG) found in exon 10 of Rasa1 (RasGAP) was mutated (GAC ACT GTG GAT GGG to GAC ACT GTG GCC GGC) so that the second aspartic residue of the cleavage site was converted into an alanine (D455A mutation). A floxed neomycin-resistance cassette was inserted between exon 10 and 11. This neomycin-resistance cassette was eventually deleted by mating the knock-in mouse two times in a row with a nestin cre recombinase mouse (hence the term delta in the original strain name). |
| Phenotypic information | Mice homozygous for the RasGAPD455A allele (knock-in mice) are viable, fertile, grow normally and show no obvious morphologic alterations, histologic defects, or hematologic abnormalities. However, they have a defect in activating the anti-apoptotic Akt kinase in response to various chemical and environmental stresses causing sunburns, cardiomyopathy, or colitis leading to increased apoptosis in stressed organs, marked deterioration of their physiological functions, and stronger disease development. |
| Breeding history | The targeting vector was electroporated into a 129/SvEv ES cell line and implanted in C57BL/6 mice. The targeted allele was then backcrossed 11 times into the C57BL/6N background. Then, the mice were bred twice consecutively with the C57BL/6 nestin cre deleter mouse to remove the neomycin cassette. The mice are currently bred on the C57BL/6N background. |
| References |
|
| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | CNB-CSIC, Centro Nacional de Biotecnologia, Madrid, Spain |
| Animals used for archiving | homozygous C57BL/6N males, wild-type C57BL/6N females |
| Stage of embryos | 2-cell |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Parkes Weber syndrome / Orphanet_90307
- Capillary malformation-arteriovenous malformation / Orphanet_137667
IMPC phenotypes (gene matching)
MGI phenotypes (allele matching)
- abnormal cardiovascular system physiology / MGI
- increased cardiomyocyte apoptosis / MGI
- increased cellular sensitivity to ultraviolet irradiation / MGI
- increased susceptibility to induced colitis / MGI
- increased enterocyte apoptosis / MGI
- increased sensitivity to induced cell death / MGI
- decreased colon length / MGI
MGI phenotypes (gene matching)
- distended pericardium / MGI
- abnormal cell death / MGI
- abnormal cardiovascular system physiology / MGI
- abnormal blood vessel morphology / MGI
- incomplete somite formation / MGI
- decreased embryo size / MGI
- embryonic growth arrest / MGI
- abnormal developmental patterning / MGI
- abnormal embryonic tissue morphology / MGI
- no phenotypic analysis / MGI
- increased cardiomyocyte apoptosis / MGI
- abnormal vitelline vasculature morphology / MGI
- abnormal dorsal aorta morphology / MGI
- abnormal rostral-caudal axis patterning / MGI
- abnormal first pharyngeal arch morphology / MGI
- increased cellular sensitivity to ultraviolet irradiation / MGI
- increased susceptibility to induced colitis / MGI
- increased enterocyte apoptosis / MGI
- increased sensitivity to induced cell death / MGI
- abnormal intersomitic artery morphology / MGI
- embryonic lethality during organogenesis, complete penetrance / MGI
- excessive folding of visceral yolk sac / MGI
- decreased colon length / MGI
Literature references
- Caspase-3 protects stressed organs against cell death.;Khalil Hadi, Peltzer Nieves, Walicki Joël, Yang Jiang-Yan, Dubuis Gilles, Gardiol Noémie, Held Werner, Bigliardi Paul, Marsland Benjamin, Liaudet Lucas, Widmann Christian, ;2012;Molecular and cellular biology;32;4523-33; 22949508
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