IMPC phenotypes (allele matching)
B6Dnk;B6N-Jarid2tm1a(KOMP)Wtsi/WtsiOrl
| Status | Available to order |
| EMMA ID | EM:13675 |
| International strain name | B6Dnk;B6N-Jarid2tm1a(KOMP)Wtsi/WtsiOrl |
| Alternative name | EPD0018_2_C08 |
| Strain type | Targeted Mutant Strains |
| Allele/Transgene symbol | Jarid2tm1a(KOMP)Wtsi |
| Gene/Transgene symbol | Jarid2 |
| 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 KOMP ES clone EPD0018_2_C08. For further details on the construction of this clone see the page at the IMPC portal. |
| Phenotypic information | Potential phenotyping data in the IMPC portal |
| References |
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Information from EMMA
| Archiving centre | Institut de Transgenose, INTRAGENE, Orléans, France |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Non-specific syndromic intellectual disability / Orphanet_528084
MGI phenotypes (allele matching)
- increased circulating creatinine level / MGI
MGI phenotypes (gene matching)
- abnormal sternum morphology / MGI
- abnormal erythropoiesis / MGI
- abnormal heart development / MGI
- abnormal myocardial fiber morphology / MGI
- abnormal interventricular septum morphology / MGI
- double outlet right ventricle / MGI
- distended pericardium / MGI
- trabecula carnea hypoplasia / MGI
- abnormal liver morphology / MGI
- liver hypoplasia / MGI
- small liver / MGI
- enlarged liver sinusoidal spaces / MGI
- decreased hepatocyte number / MGI
- abnormal liver physiology / MGI
- spleen hypoplasia / MGI
- incomplete rostral neuropore closure / MGI
- anemia / MGI
- hepatic necrosis / MGI
- decreased embryo size / MGI
- edema / MGI
- thymus hypoplasia / MGI
- hemorrhage / MGI
- respiratory failure / MGI
- prenatal lethality / MGI
- abnormal definitive hematopoiesis / MGI
- abnormal neural tube morphology / MGI
- abnormal myocardial trabeculae morphology / MGI
- abnormal megakaryocyte progenitor cell morphology / MGI
- delayed neural tube closure / MGI
- thin myocardium / MGI
- abnormal fetal cardiomyocyte proliferation / MGI
- nervous system phenotype / MGI
- abnormal neural tube closure / MGI
- abnormal nervous system development / MGI
- abnormal heart left ventricle morphology / MGI
- abnormal interventricular groove morphology / MGI
- abnormal myocardium compact layer morphology / MGI
- dilated heart right atrium / MGI
- fetal growth retardation / MGI
- abnormal thoracic cage morphology / MGI
- abnormal neural fold formation / MGI
- abnormal myocardium layer morphology / MGI
- increased circulating creatinine level / MGI
- abnormal neural plate morphology / MGI
- abnormal splenic cell ratio / MGI
- abnormal thymus cell ratio / MGI
- ventricular septal defect / MGI
- abnormal coronary vessel morphology / MGI
- perinatal lethality, complete penetrance / MGI
- embryonic lethality during organogenesis, complete penetrance / MGI
- lethality throughout fetal growth and development, complete penetrance / MGI
- embryonic lethality during organogenesis, incomplete penetrance / MGI
- lethality throughout fetal growth and development, incomplete penetrance / MGI
- decreased fetal derived definitive erythrocyte cell number / MGI
Literature references
- Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes.;White Jacqueline K, Gerdin Anna-Karin, Karp Natasha A, Ryder Ed, Buljan Marija, Bussell James N, Salisbury Jennifer, Clare Simon, Ingham Neil J, Podrini Christine, Houghton Richard, Estabel Jeanne, Bottomley Joanna R, Melvin David G, Sunter David, Adams Niels C, null null, Tannahill David, Logan Darren W, Macarthur Daniel G, Flint Jonathan, Mahajan Vinit B, Tsang Stephen H, Smyth Ian, Watt Fiona M, Skarnes William C, Dougan Gordon, Adams David J, Ramirez-Solis Ramiro, Bradley Allan, Steel Karen P, ;2013;Cell;154;452-64; 23870131