- abnormal blood vessel morphology / MGI
- abnormal vascular smooth muscle morphology / MGI
- abnormal heart development / MGI
- abnormal heart looping / MGI
- anemia / MGI
- decreased embryo size / MGI
- thin myocardium / MGI
- abnormal vitelline vasculature morphology / MGI
- abnormal embryonic hematopoiesis / MGI
- abnormal capillary morphology / MGI
- embryonic growth retardation / MGI
- abnormal dorsal aorta morphology / MGI
- abnormal heart ventricle morphology / MGI
- pericardial effusion / MGI
- abnormal cardiac outflow tract development / MGI
- embryonic lethality during organogenesis, complete penetrance / MGI
- mortality/aging / MGI
B6;129-Engtm1Hma/Cnrm
Status | Available to order |
EMMA ID | EM:00066 |
International strain name | B6;129-Engtm1Hma/Cnrm |
Alternative name | Eng-KO, CD105-KO |
Strain type | Targeted Mutant Strains : Knock-out |
Allele/Transgene symbol | Engtm1Hma, |
Gene/Transgene symbol | Eng |
Information from provider
Provider | Helen Arthur |
Provider affiliation | Medical School, University of Newcastle upon Tyne |
Genetic information | The construct contained a neo-targeted deletion of the central portion of the endoglin (Eng, formerly Cd105) gene and also carried a neo gene. The targeted line was produced by homologous recombination in ES cells. |
Phenotypic information | Embryonic lethal at 10.5 dpc. At 9.5 dpc, Eng -/- embryos display defective angiogenesis of the yolk sac. Many Eng -/- embryos also show signs of abnormal cardiac development, including failed organisation of the endocardial cushions and pericardial effusion. Heterozygous animals show defects in vascular smooth muscle organisation. Fragile vessels near epidermal surfaces are vulnerable to trauma and may haemorrhage. |
References |
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Information from EMMA
Archiving centre | CNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy |
Disease and phenotype information
MGI allele-associated human disease models
Orphanet associated rare diseases, based on orthologous gene matching
- Hereditary hemorrhagic telangiectasia / Orphanet_774
MGI phenotypes (allele matching)
Literature references
- Endoglin, an ancillary TGFbeta receptor, is required for extraembryonic angiogenesis and plays a key role in heart development.;Arthur H M, Ure J, Smith A J, Renforth G, Wilson D I, Torsney E, Charlton R, Parums D V, Jowett T, Marchuk D A, Burn J, Diamond A G, ;2000;Developmental biology;217;42-53; 10625534
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