Mouse Genome Informatics
hm1
    Engtm1Mle/Engtm1Mle
involves: 129P2/OlaHsd * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype

Arrest in development in Engtm1Mle/Engtm1Mle embryos

mortality/aging

growth/size
• exhibit signs of growth retardation at E9.5 featured by a smaller head, underdeveloped nasal processes, and branchial arches
• small head at E9.5

embryogenesis
• yolk sacs at E9-9.5 show an abnormal vascular plexus
• vitelline vessels are completely absent at E9.5 and are replaced by enlarged and leaky channels that release their content into the yolk sac cavity resulting in hemorrhage
• exhibit underdeveloped branchial arches at E9.5
• E10-10.5 embryos exhibit extensive tissue necrosis
• blood islands at E9-9.5 are dilated and fused to generate abnormal and irregular channels
• exhibit signs of growth retardation at E9.5 featured by a smaller head, underdeveloped nasal processes, and branchial arches

cardiovascular system
• collapsed vasculature
• yolk sacs at E9-9.5 show an abnormal vascular plexus
• vitelline vessels are completely absent at E9.5 and are replaced by enlarged and leaky channels that release their content into the yolk sac cavity resulting in hemorrhage
• no mesenchymal cells are detected in E9 hearts, indicating that endocardial-mesenchymal transformation does not occur
• the endocardium remains rudimentary at E9 in the primitive ventricle, whose lumen failed to close in the atrioventricular area
• some E9 embryos have an abnormally dilated endocardium in the common atrial chamber and the bulbus cordis
• appears enlarged at E9
• seen at E9.5
• seen by E9; show blood accumulating in the peritoneal cavity, indicating that embryonic vessels are fragile and susceptible to rupture
• at E10.5, heart is arrested and no longer beating and exhibits extensive necrosis

homeostasis/metabolism
• seen at E9.5

craniofacial
• exhibit underdeveloped nasal processes at E9.5
• exhibit underdeveloped branchial arches at E9.5


Mouse Genome Informatics
ht2
    Engtm1Mle/Eng+
129P2/OlaHsd-Engtm1Mle
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype

Engtm1Mle/Eng+ mice have nosebleeds and telangiectases characteristic of heriditary hemorrhagic telangiectasia

mortality/aging
• a female died at 7 weeks

cardiovascular system
• 3 of 10 have nosebleeds when observed for over a period of 7 months and some show tail bleeding
• 5 of 10 show visible telangiectases on the ears; exhibit large dilated vessels at the periphery of the ear lobe
• these small vascular lesions last for 2-3 days and then rapture and bleed, often leading to partial ear necrosis
• seen in some heterozygotes

muscle
• 5 of 10 show visible telangiectases on the ears; exhibit large dilated vessels at the periphery of the ear lobe
• these small vascular lesions last for 2-3 days and then rapture and bleed, often leading to partial ear necrosis
• seen in some heterozygotes


Mouse Genome Informatics
ht3
    Engtm1Mle/Eng+
involves: 129P2/OlaHsd * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
cardiovascular system
• some bleed from the nose or mouth, once or twice a week
• two mice die with breathing difficulties and internal hemorrhages
• seen in some heterozygotes
• seen in some heterozygotes

growth/size

respiratory system
• two mice die with breathing difficulties and internal hemorrhages

muscle
• seen in some heterozygotes
• seen in some heterozygotes

integument


Mouse Genome Informatics
ht4
    Engtm1Mle/Eng+
involves: 129P2/OlaHsd * C57BL/6 * CD-1
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
cardiovascular system
N
• Background Sensitivity: show no signs of hereditary hemorrhagic telangiectasia type I when observed over 3-9 months unlike on a 129P2/OlaHsd or mixed 129P2/OlaHsd and C57BL/6 background (J:58502)