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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Eng+
wild type
MGI:2430556
Summary 5 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
ht1
 		Engtm1Hma/Eng+ 129P2/OlaHsd-Engtm1Hma MGI:3623404
ht2
 		Engtm1Mle/Eng+ 129P2/OlaHsd-Engtm1Mle MGI:3628821
ht3
 		Engem1(IMPC)Mbp/Eng+ C57BL/6N-Engem1(IMPC)Mbp/MbpMmucd MGI:6492821
ht4
 		Engtm1Mle/Eng+ involves: 129P2/OlaHsd * C57BL/6 MGI:2669003
ht5
 		Engtm1Mle/Eng+ involves: 129P2/OlaHsd * C57BL/6 * CD-1 MGI:3628820


Genotype
MGI:3623404
ht1
Allelic
Composition		 Engtm1Hma/Eng+
Genetic
Background		 129P2/OlaHsd-Engtm1Hma
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Engtm1Hma mutation (1 available); any Eng mutation (43 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cardiovascular system
abnormal blood vessel morphology ( J:73415 )
• occasional mice exhibit extensive dilated and weak-walled vessels
• elastin support fibers surrounding fragile vessels are disorganized and sparsely distributed
abnormal vascular smooth muscle morphology ( J:73415 )
• smooth muscle cells surrounding the fragile vessels are disorganized and sparsely distributed

muscle
abnormal vascular smooth muscle morphology ( J:73415 )
• smooth muscle cells surrounding the fragile vessels are disorganized and sparsely distributed

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
hereditary hemorrhagic telangiectasia DOID:1270 OMIM:187300
OMIM:600376
OMIM:615506
 J:73415




Genotype
MGI:3628821
ht2
Allelic
Composition		 Engtm1Mle/Eng+
Genetic
Background		 129P2/OlaHsd-Engtm1Mle
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Engtm1Mle mutation (0 available); any Eng mutation (43 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype

Engtm1Mle/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:615506
 J:58502




Genotype
MGI:6492821
ht3
Allelic
Composition		 Engem1(IMPC)Mbp/Eng+
Genetic
Background		 C57BL/6N-Engem1(IMPC)Mbp/MbpMmucd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Engem1(IMPC)Mbp mutation (1 available); any Eng mutation (43 available)
Data Sources
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
embryo

hematopoietic system

immune system

limbs/digits/tail

renal/urinary system
small kidney ( J:211773 )
IMPC - UCD

skeleton




Genotype
MGI:2669003
ht4
Allelic
Composition		 Engtm1Mle/Eng+
Genetic
Background		 involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Engtm1Mle mutation (0 available); any Eng mutation (43 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
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
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
neck telangiectasia ( J:58502 )
• seen in some heterozygotes
tail telangiectasia ( J:58502 )
• seen in some heterozygotes

integument

hearing/vestibular/ear

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




Genotype
MGI:3628820
ht5
Allelic
Composition		 Engtm1Mle/Eng+
Genetic
Background		 involves: 129P2/OlaHsd * C57BL/6 * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Engtm1Mle mutation (0 available); any Eng mutation (43 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
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




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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
03/25/2025
MGI 6.24 		The Jackson Laboratory