- preweaning lethality, complete penetrance / IMPC
B6Brd;B6N-Tyrc-Brd Elp1tm1a(KOMP)Wtsi/WtsiOrl
Status | Available to order |
EMMA ID | EM:15222 |
International strain name | B6Brd;B6N-Tyrc-Brd Elp1tm1a(KOMP)Wtsi/WtsiOrl |
Alternative name | EPD0033_2_A09 |
Strain type | Targeted Mutant Strains |
Allele/Transgene symbol | Elp1tm1a(KOMP)Wtsi |
Gene/Transgene symbol | Elp1 |
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 EPD0033_2_A09. 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
- Familial dysautonomia / Orphanet_1764
IMPC phenotypes (allele matching)
IMPC phenotypes (gene matching)
- preweaning lethality, complete penetrance / IMPC
MGI phenotypes (gene matching)
- abnormal vascular development / MGI
- abnormal heart development / MGI
- abnormal heart looping / MGI
- distended pericardium / MGI
- absent atrioventricular cushions / MGI
- abnormal brain development / MGI
- incomplete rostral neuropore closure / MGI
- abnormal telencephalon development / MGI
- decreased embryo size / MGI
- incomplete embryo turning / MGI
- absent visceral yolk sac blood islands / MGI
- embryonic growth arrest / MGI
- abnormal embryonic tissue morphology / MGI
- no phenotypic analysis / MGI
- abnormal vitelline vasculature morphology / MGI
- abnormal forebrain development / MGI
- pallor / MGI
- absent pharyngeal arches / MGI
- embryonic growth retardation / MGI
- absent heartbeat / MGI
- abnormal embryonic erythropoiesis / MGI
- small placenta / MGI
- absent limb buds / MGI
- abnormal cardinal vein morphology / MGI
- abnormal dorsal aorta morphology / MGI
- pericardial effusion / MGI
- abnormal cardiac outflow tract development / MGI
- absent optic vesicle / MGI
- absent second pharyngeal arch / MGI
- embryonic lethality during organogenesis, complete penetrance / MGI
- absent lamina terminalis / 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
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