Phenotypes associated with this allele

• Allele Symbol: Eng^tm2.1Hma
• Allele Name: targeted mutation 2.1, Helen M Arthur
• Allele ID: MGI:3712802
• Summary: 8 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Eng^tm2.1Hma/Eng^tm2.1Hma	involves: 129P2/OlaHsd * C57BL/6	MGI:3712889
ht2	Eng^tm1Hma/Eng^tm2.1Hma	involves: 129P2/OlaHsd * C57BL/6	MGI:3712891
cn3	Eng^tm2.1Hma/Eng^tm2.1Hma	involves: 129P2/OlaHsd	MGI:5501108
cn4	Eng^tm2.1Hma/Eng^tm2.1Hma Lyz2^tm1(cre)Ifo/Lyz2^+	involves: 129P2/OlaHsd	MGI:5775293
cn5	Eng^tm2.1Hma/Eng^tm2.1Hma Gt(ROSA)26Sor^tm1(cre/ERT)Nat/Gt(ROSA)26Sor^+	involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ	MGI:5775189
cn6	Eng^tm2.1Hma/Eng^tm2.1Hma Tg(Tal1-cre/ERT)1Jrg/0	involves: 129P2/OlaHsd * C57BL/6	MGI:5775190
cn7	Eng^tm2.1Hma/Eng^tm2.1Hma Tg(Tagln-cre)1Her/0	involves: 129P2/OlaHsd * C57BL/6 * SJL	MGI:5775294
cn8	Eng^tm2.1Hma/Eng^tm2.1Hma Tg(Myh11-icre/ERT2)1Soff/0	involves: 129P2/OlaHsd * FVB/N	MGI:5775198

Genotype
MGI:3712889

hm1

• Allelic Composition: Eng^tm2.1Hma/Eng^tm2.1Hma
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

normal phenotype

no abnormal phenotype detected ( J:121898 )

• mice are viable and fertile with no obvious phenotype

Genotype
MGI:3712891

ht2

• Allelic Composition: Eng^tm1Hma/Eng^tm2.1Hma
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

mortality/aging

mortality/aging ( J:121898 )

N • mice are viable

Genotype
MGI:5501108

cn3

• Allelic Composition: Eng^tm2.1Hma/Eng^tm2.1Hma
• Genetic Background: involves: 129P2/OlaHsd

cardiovascular system

cerebral arteriovenous malformation ( J:196810 )

• mice co-injected with a Cre recombinase and a VEGF expressing adenovirus exhibit malformed vessels and increased cerebrovascular density in the brain at the injection site resembling arteriovenous malformations

• however, mutants co-injected with a Cre recombinase and a VEGF expressing adenovirus exhibit a similar degree of angiogenesis as in wild-type mice injected with the VEGF adenovirus

• co-injection of a Cre recombinase and a VEGF expressing adenovirus induces less cerebrovascular dysplasia in mutants than in similarly injected Acvrl1^tm2.1Spo homozygotes, however gene deletion efficiency is lower in this mutant and when gene deletion efficiency is the same, then these mutants show more dysplastic vessels per gene copy than the Acvrl1 mutant

nervous system

cerebral arteriovenous malformation ( J:196810 )

• mice co-injected with a Cre recombinase and a VEGF expressing adenovirus exhibit malformed vessels and increased cerebrovascular density in the brain at the injection site resembling arteriovenous malformations

• however, mutants co-injected with a Cre recombinase and a VEGF expressing adenovirus exhibit a similar degree of angiogenesis as in wild-type mice injected with the VEGF adenovirus

• co-injection of a Cre recombinase and a VEGF expressing adenovirus induces less cerebrovascular dysplasia in mutants than in similarly injected Acvrl1^tm2.1Spo homozygotes, however gene deletion efficiency is lower in this mutant and when gene deletion efficiency is the same, then these mutants show more dysplastic vessels per gene copy than the Acvrl1 mutant

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
arteriovenous malformations of the brain		DOID:0060688	OMIM:108010	J:196810

Genotype
MGI:5775293

cn4

• Allelic Composition: Eng^tm2.1Hma/Eng^tm2.1Hma; Lyz2^tm1(cre)Ifo/Lyz2⁺
• Genetic Background: involves: 129P2/OlaHsd

cardiovascular system

cardiovascular system phenotype ( J:212952 )

N • tamoxifen treated mice do not develop arteriovenous malformations in response to AAV-VEGF injection into the basal ganglia at 8-10 weeks of age or around the ear tag wound

Genotype
MGI:5775189

cn5

• Allelic Composition: Eng^tm2.1Hma/Eng^tm2.1Hma; Gt(ROSA)26Sor^{tm1(cre/ERT)Nat}/Gt(ROSA)26Sor⁺
• Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ

behavior/neurological

decreased locomotor activity ( J:227170 )

• mice display signs of illness in 3-4 days after the first tamoxifen injection which includes slow movement

cardiovascular system

arteriovenous malformation ( J:212952 , J:227170 )

• adults injected with tamoxifen for 3 days develop arteriovenous malformations in AAV-VEGF-induced brain angiogenic foci 8 weeks after induction, with lesions consisting of enlarged vessels (J:212952)

• tamoxifen treated adults develop arteriovenous malformations around the ear-tag wound (J:212952)

• areas of wounds in mid-dorsum and ear of tamoxifen-injected mice show the presence of arteriovenous (AV) shunts (J:227170)

hemorrhage ( J:212952 )

• macrophages and microhemorrhage are seen around dysplastic vessels of AAV-VEGF injected, tamoxifen treated mice in the brain

abnormal vascular wound healing ( J:212952 , J:227170 )

• tamoxifen treated adults develop arteriovenous malformations around the ear-tag wound (J:212952)

• areas of wounds in mid-dorsum and ear of tamoxifen-injected mice show dilated and torturous vessels and the presence of arteriovenous (AV) shunts (J:227170)

• however, blood vessels away from the wound have normal morphology (J:227170)

digestive/alimentary system

diarrhea ( J:227170 )

• mice display signs of illness in 3-4 days after the first tamoxifen injection which includes diarrhea

homeostasis/metabolism

abnormal vascular wound healing ( J:212952 , J:227170 )

• tamoxifen treated adults develop arteriovenous malformations around the ear-tag wound (J:212952)

• areas of wounds in mid-dorsum and ear of tamoxifen-injected mice show dilated and torturous vessels and the presence of arteriovenous (AV) shunts (J:227170)

• however, blood vessels away from the wound have normal morphology (J:227170)

dehydration ( J:227170 )

• mice display signs of illness in 3-4 days after the first tamoxifen injection which includes dehydration

mortality/aging

moribund ( J:227170 )

• mice die around day 4-10 after the first tamoxifen treatment

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:212952 , J:227170

Genotype
MGI:5775190

cn6

• Allelic Composition: Eng^tm2.1Hma/Eng^tm2.1Hma; Tg(Tal1-cre/ERT)1Jrg/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

cardiovascular system

arteriovenous malformation ( J:227170 )

• tamoxifen-injected adults subjected to wounding exhibit multiple arteriovenous (AV) shunts in the punched area of both the ear and the back skin

abnormal vascular wound healing ( J:227170 )

• tamoxifen-injected adults subjected to wounding exhibit tortuous and enlarged blood vessels and present multiple arteriovenous (AV) shunts in the punched area of both the ear and the back skin

• however, tamoxifen-treated mice do not exhibit signs of hemorrhages or arteriovenous malformations in internal organs and survive longer than a month

homeostasis/metabolism

abnormal vascular wound healing ( J:227170 )

• tamoxifen-injected adults subjected to wounding exhibit tortuous and enlarged blood vessels and present multiple arteriovenous (AV) shunts in the punched area of both the ear and the back skin

• however, tamoxifen-treated mice do not exhibit signs of hemorrhages or arteriovenous malformations in internal organs and survive longer than a month

Genotype
MGI:5775294

cn7

• Allelic Composition: Eng^tm2.1Hma/Eng^tm2.1Hma; Tg(Tagln-cre)1Her/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

cardiovascular system

abnormal blood vessel morphology ( J:212952 )

• dilated and dysmorphic vessels in brains of 5 week old mice

arteriovenous malformation ( J:212952 )

• 90% of 5 week old mice exhibit arteriovenous malformations with greatly enlarged and tortuous vessels in the brain

• more than 80% of mice have one arteriovenous malformation lesion, while the remaining 20% have 2-3 lesions

• arteriovenous (A-V) shunting and hemorrhage are seen in some brain and spinal cord lesions

gastrointestinal arteriovenous malformation ( J:212952 )

• arteriovenous malformations are also seen in the spinal cord and intestine

hemorrhage ( J:212952 )

• hemorrhage is seen in some brain and spinal cord lesions

• macrophages and microhemorrhage are seen around dysplastic vessels in the brain

digestive/alimentary system

gastrointestinal arteriovenous malformation ( J:212952 )

• arteriovenous malformations are also seen in the spinal cord and intestine

mortality/aging

premature death ( J:212952 )

• more than 50% of mice before 6 weeks of age

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:212952

Genotype
MGI:5775198

cn8

• Allelic Composition: Eng^tm2.1Hma/Eng^tm2.1Hma; Tg(Myh11-icre/ERT2)1Soff/0
• Genetic Background: involves: 129P2/OlaHsd * FVB/N

cardiovascular system

cardiovascular system phenotype ( J:227170 )

N • tamoxifen treated adults do not exhibit arteriovenous (AV) shunts in any areas of the skin including the wound areas