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

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

embryo tissue necrosis ( J:58502 )

• E10-10.5 embryos exhibit extensive tissue necrosis

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

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