B6;129-Eng^tm1Hma/Cnrm

Status	Available to order
EMMA ID	EM:00066
International strain name	B6;129-Eng^tm1Hma/Cnrm
Alternative name	Eng-KO, CD105-KO
Strain type	Targeted Mutant Strains : Knock-out
Allele/Transgene symbol	Eng^tm1Hma
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	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

Information from EMMA

Archiving centre	CNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy

Disease and phenotype information

MGI allele-associated human disease models

hereditary hemorrhagic telangiectasia / DOID:1270

Orphanet associated rare diseases, based on orthologous gene matching

Hereditary hemorrhagic telangiectasia / Orphanet_774

IMPC phenotypes (gene matching)

embryonic growth retardation / IMPC
abnormal neural tube morphology / IMPC
abnormal vitelline vasculature morphology / IMPC
abnormal heart morphology / IMPC
preweaning lethality, complete penetrance / IMPC
abnormal placenta morphology / IMPC
prenatal lethality prior to heart atrial septation / IMPC
abnormal pharyngeal arch morphology / IMPC
abnormal visceral yolk sac morphology / IMPC
increased neutrophil cell number / IMPC
small kidney / IMPC
abnormal somite shape / IMPC
abnormal kidney morphology / IMPC
abnormal caudal vertebrae morphology / IMPC

MGI phenotypes (allele matching)

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

MGI phenotypes (gene matching)

abnormal vascular development / MGI
atretic vasculature / MGI
abnormal heart development / MGI
abnormal heart looping / MGI
enlarged heart / MGI
ruffled hair / MGI
microcephaly / MGI
weight loss / MGI
anemia / MGI
abnormal blood vessel morphology / MGI
internal hemorrhage / MGI
abnormal embryo development / MGI
incomplete somite formation / MGI
decreased embryo size / MGI
absent vitelline blood vessels / MGI
pericardial edema / MGI
hemorrhage / MGI
respiratory distress / MGI
premature death / MGI
no abnormal phenotype detected / MGI
thin myocardium / MGI
abnormal pharyngeal arch morphology / MGI
abnormal vitelline vasculature morphology / MGI
abnormal embryonic hematopoiesis / MGI
abnormal capillary morphology / MGI
abnormal craniofacial development / MGI
abnormal endocardium morphology / MGI
embryonic growth retardation / MGI
absent heartbeat / MGI
ear telangiectases / MGI
tail telangiectases / MGI
neck telangiectases / MGI
abnormal carotid artery morphology / MGI
failure of heart looping / MGI
abnormal dorsal aorta morphology / MGI
abnormal heart ventricle morphology / MGI
pericardial effusion / MGI
cardiovascular system phenotype / MGI
hemoperitoneum / MGI
abnormal vascular smooth muscle morphology / MGI
decreased angiogenesis / MGI
abnormal cardiac outflow tract development / MGI
mortality/aging / MGI
prenatal lethality, complete penetrance / MGI
embryonic lethality during organogenesis, complete penetrance / MGI
abnormal visceral yolk sac blood island morphology / MGI
abnormal intersomitic vessel morphology / MGI
abnormal perineural vascular plexus morphology / MGI
embryo tissue necrosis / MGI

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

Information on how we integrate external resources can be found here

Order

Availabilities

Requesting frozen sperm or embryos is generally advisable wherever possible, in order to minimise the shipment of live mice.

Frozen embryos. Delivered in 4 weeks (after paperwork in place). €1740^*
Rederivation of mice from frozen stock, delivery time available upon request . €3880^*

Due to the dynamic nature of our processes strain availability may change at short notice. The local repository manager will advise you in these circumstances.

^* In addition users have to cover all the shipping costs (including the cost for returning dry-shippers, where applicable).

More details on pricing and delivery times

Practical information

Example health report
(Current health report will be provided later)

Material Transfer Agreement (MTA)
For this strain no provider MTA is needed. Distribution is based on the EMMA conditions only.

EMMA conditions
Legally binding conditions for the transfer

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B6;129-Engtm1Hma/Cnrm