Phenotypes Associated with This Genotype

Genotype
MGI:3628821

• Allelic Composition: Eng^tm1Mle/Eng⁺
• Genetic Background: 129P2/OlaHsd-Eng^tm1Mle

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

Eng^tm1Mle/Eng⁺ mice have nosebleeds and telangiectases characteristic of heriditary hemorrhagic telangiectasia

mortality/aging

premature death ( J:58502 )

• a female died at 7 weeks

cardiovascular system

hemorrhage ( J:58502 )

• 3 of 10 have nosebleeds when observed for over a period of 7 months and some show tail bleeding

ear telangiectasia ( J:58502 )

• 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

tail telangiectasia ( J:58502 )

• seen in some heterozygotes

muscle

ear telangiectasia ( J:58502 )

• 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

tail telangiectasia ( J:58502 )

• seen in some heterozygotes

hearing/vestibular/ear

ear telangiectasia ( J:58502 )

• 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

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hereditary hemorrhagic telangiectasia		DOID:1270	OMIM:187300 OMIM:600376 OMIM:601101 OMIM:615506	J:58502