Phenotypes associated with this allele

• Allele Symbol: Eng^tm1Mle
• Allele Name: targeted mutation 1, Michelle Letarte
• Allele ID: MGI:2177824
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Eng^tm1Mle/Eng^tm1Mle	involves: 129P2/OlaHsd * C57BL/6	MGI:2669005
ht2	Eng^tm1Mle/Eng^+	129P2/OlaHsd-Eng^tm1Mle	MGI:3628821
ht3	Eng^tm1Mle/Eng^+	involves: 129P2/OlaHsd * C57BL/6	MGI:2669003
ht4	Eng^tm1Mle/Eng^+	involves: 129P2/OlaHsd * C57BL/6 * CD-1	MGI:3628820

Genotype
MGI:2669005

hm1

• Allelic Composition: Eng^tm1Mle/Eng^tm1Mle
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

Arrest in development in Eng^tm1Mle/Eng^tm1Mle embryos

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:58502 )

• die around E10-10.5

growth/size/body

enlarged heart ( J:58502 )

• appears enlarged at E9

embryonic growth retardation ( J:58502 )

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

microcephaly ( J:58502 )

• small head at E9.5

embryo

abnormal vitelline vasculature morphology ( J:58502 )

• yolk sacs at E9-9.5 show an abnormal vascular plexus

absent vitelline blood vessels ( J:58502 )

• 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

embryo tissue necrosis ( J:58502 )

• E10-10.5 embryos exhibit extensive tissue necrosis

abnormal pharyngeal arch morphology ( J:58502 )

• exhibit underdeveloped branchial arches at E9.5

embryonic growth retardation ( J:58502 )

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

abnormal visceral yolk sac blood island morphology ( J:58502 )

• blood islands at E9-9.5 are dilated and fused to generate abnormal and irregular channels

cardiovascular system

abnormal blood vessel morphology ( J:58502 )

• collapsed vasculature

abnormal vitelline vasculature morphology ( J:58502 )

• yolk sacs at E9-9.5 show an abnormal vascular plexus

absent vitelline blood vessels ( J:58502 )

• 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

abnormal heart development ( J:58502 )

• no mesenchymal cells are detected in E9 hearts, indicating that endocardial-mesenchymal transformation does not occur

abnormal endocardium morphology ( J:58502 )

• 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

enlarged heart ( J:58502 )

• appears enlarged at E9

pericardial edema ( J:58502 )

• seen at E9.5

hemoperitoneum ( J:58502 )

• seen by E9; show blood accumulating in the peritoneal cavity, indicating that embryonic vessels are fragile and susceptible to rupture

absent heartbeat ( J:58502 )

• at E10.5, heart is arrested and no longer beating and exhibits extensive necrosis

homeostasis/metabolism

pericardial edema ( J:58502 )

• seen at E9.5

craniofacial

abnormal craniofacial development ( J:58502 )

• exhibit underdeveloped nasal processes at E9.5

abnormal pharyngeal arch morphology ( J:58502 )

• exhibit underdeveloped branchial arches at E9.5

cellular

embryo tissue necrosis ( J:58502 )

• E10-10.5 embryos exhibit extensive tissue necrosis

Genotype
MGI:3628821

ht2

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

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

Genotype
MGI:2669003

ht3

• Allelic Composition: Eng^tm1Mle/Eng⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

cardiovascular system

hemorrhage ( J:58502 )

• some bleed from the nose or mouth, once or twice a week

internal hemorrhage ( J:58502 )

• two mice die with breathing difficulties and internal hemorrhages

ear telangiectasia ( J:58502 )

neck telangiectasia ( J:58502 )

• seen in some heterozygotes

tail telangiectasia ( J:58502 )

• seen in some heterozygotes

growth/size/body

weight loss ( J:58502 )

respiratory system

respiratory distress ( J:58502 )

• two mice die with breathing difficulties and internal hemorrhages

muscle

ear telangiectasia ( J:58502 )

neck telangiectasia ( J:58502 )

• seen in some heterozygotes

tail telangiectasia ( J:58502 )

• seen in some heterozygotes

integument

ruffled hair ( J:58502 )

hearing/vestibular/ear

ear telangiectasia ( J:58502 )

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

Genotype
MGI:3628820

ht4

• Allelic Composition: Eng^tm1Mle/Eng⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CD-1

cardiovascular system

cardiovascular system phenotype ( J:58502 )

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