All Phenotypes Heg1<tm1Mlkn> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Heg1^tm1Mlkn
targeted mutation 1, Mark L Kahn
MGI:3838392

Summary

7 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Heg1^tm1Mlkn/Heg1^tm1Mlkn	either: B6.129-Heg1^tm1Mlkn or (involves: 129 * C57BL/6)	MGI:3838393
cn2	Ccm2l^tm1Mlkn/Ccm2l^tm1Mlkn Ccm2^tm1Mlkn/Ccm2⁺ Heg1^tm1Mlkn/Heg1^tm2.1Mlkn Tg(Tek-cre)1Ywa/0	involves: 129 * C57BL/6 * SJL	MGI:5439515
cn3	Ccm2l^tm1Mlkn/Ccm2l^tm1Mlkn Heg1^tm1Mlkn/Heg1^tm2.1Mlkn Tg(Tek-cre)1Ywa/0	involves: 129 * C57BL/6 * SJL	MGI:5439509
cx4	Ccm2^{Gt(RRG051)Byg}/Ccm2⁺ Heg1^tm1Mlkn/Heg1^tm1Mlkn	involves: 129 * 129P2/OlaHsd * C57BL/6	MGI:5439512
cx5	Ccm2l^tm1Mlkn/Ccm2l^tm1Mlkn Ccm2^{Gt(RRG051)Byg}/Ccm2⁺ Heg1^tm1Mlkn/Heg1^tm1Mlkn	involves: 129 * 129P2/OlaHsd * C57BL/6	MGI:5439510
cx6	Ccm2l^tm1Mlkn/Ccm2l^tm1Mlkn Heg1^tm1Mlkn/Heg1^tm1Mlkn	involves: 129 * C57BL/6	MGI:5439507
cx7	Ccm2^{Gt(RRG051)Byg}/Ccm2⁺ Heg1^tm1Mlkn/Heg1⁺	involves: 129/Sv * 129P2/OlaHsd * C57BL/6	MGI:3838394

Allelic Composition	Heg1^tm1Mlkn/Heg1^tm1Mlkn
Genetic Background	either: B6.129-Heg1^tm1Mlkn or (involves: 129 * C57BL/6)

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Heg1^tm1Mlkn mutation (0 available); any Heg1 mutation (56 available)

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

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:146528 )

• some mice die between E14.5 and E18.5

postnatal lethality, incomplete penetrance ( J:146528 )

• about half die before weaning from loss pulmonary or cardiac vascular integrity

embryonic lethality during organogenesis, incomplete penetrance ( J:146528 )

• some mice die between E10.5 and E14.5

cardiovascular system

abnormal heart development ( J:146528 )

• at mid gestation some mice display invagination of the ventricular cavity into and often through the compact layer of the ventricular myocardium

• the septal myocardium also contains endothelial lined extensions from the ventricular cavity

abnormal heart atrium morphology ( J:146528 )

• rupture of the atria is seen in some mice

ventricular septal defect ( J:146528 )

• in late gestation embryos ventricular septal defects accompany the presence of endothelial lined extensions from the ventricular cavity within the septum

hemopericardium ( J:146528 )

• resulting from atrial rupture

abnormal lymph circulation ( J:146528 )

• lymphatic vessels leak chyle into the intestinal wall and peritoneal space

lung hemorrhage ( J:146528 )

homeostasis/metabolism

hemopericardium ( J:146528 )

• resulting from atrial rupture

chylous ascites ( J:146528 )

• chylous ascites form in about 10% of mice shortly after their first feeding

immune system

abnormal lymph circulation ( J:146528 )

• lymphatic vessels leak chyle into the intestinal wall and peritoneal space

abnormal lymphatic vessel endothelium morphology ( J:146528 )

• endothelial cell junctions are markedly shorter compared to controls and accompanied by endothelial gaps not seen in controls

lymphangiectasis ( J:146528 )

• the presence of chylous ascites is always associated with the presence of severely dilated intestinal and mesenteric lymphatic vessels

respiratory system

lung hemorrhage ( J:146528 )

Allelic Composition	Ccm2l^tm1Mlkn/Ccm2l^tm1Mlkn Ccm2^tm1Mlkn/Ccm2⁺ Heg1^tm1Mlkn/Heg1^tm2.1Mlkn Tg(Tek-cre)1Ywa/0
Genetic Background	involves: 129 * C57BL/6 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ccm2l^tm1Mlkn mutation (0 available); any Ccm2l mutation (14 available)
Ccm2^tm1Mlkn mutation (0 available); any Ccm2 mutation (47 available)
Heg1^tm1Mlkn mutation (0 available); any Heg1 mutation (56 available)
Heg1^tm2.1Mlkn mutation (0 available); any Heg1 mutation (56 available)
Tg(Tek-cre)1Ywa mutation (6 available)

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

mortality/aging

prenatal lethality, incomplete penetrance ( J:187714 )

• some survivors are detected

Allelic Composition	Ccm2l^tm1Mlkn/Ccm2l^tm1Mlkn Heg1^tm1Mlkn/Heg1^tm2.1Mlkn Tg(Tek-cre)1Ywa/0
Genetic Background	involves: 129 * C57BL/6 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ccm2l^tm1Mlkn mutation (0 available); any Ccm2l mutation (14 available)
Heg1^tm1Mlkn mutation (0 available); any Heg1 mutation (56 available)
Heg1^tm2.1Mlkn mutation (0 available); any Heg1 mutation (56 available)
Tg(Tek-cre)1Ywa mutation (6 available)

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:187714 )

• around E11

cardiovascular system

thin myocardium ( J:187714 )

muscle

thin myocardium ( J:187714 )

Allelic Composition	Ccm2^{Gt(RRG051)Byg}/Ccm2⁺ Heg1^tm1Mlkn/Heg1^tm1Mlkn
Genetic Background	involves: 129 * 129P2/OlaHsd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ccm2^{Gt(RRG051)Byg} mutation (0 available); any Ccm2 mutation (47 available)
Heg1^tm1Mlkn mutation (0 available); any Heg1 mutation (56 available)

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:187714 )

• die prior to E12

cardiovascular system

abnormal pharyngeal arch artery morphology ( J:187714 )

• defects in development

craniofacial

abnormal pharyngeal arch artery morphology ( J:187714 )

• defects in development

embryo

abnormal pharyngeal arch artery morphology ( J:187714 )

• defects in development

Allelic Composition	Ccm2l^tm1Mlkn/Ccm2l^tm1Mlkn Ccm2^{Gt(RRG051)Byg}/Ccm2⁺ Heg1^tm1Mlkn/Heg1^tm1Mlkn
Genetic Background	involves: 129 * 129P2/OlaHsd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ccm2^{Gt(RRG051)Byg} mutation (0 available); any Ccm2 mutation (47 available)
Ccm2l^tm1Mlkn mutation (0 available); any Ccm2l mutation (14 available)
Heg1^tm1Mlkn mutation (0 available); any Heg1 mutation (56 available)

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

mortality/aging

prenatal lethality, incomplete penetrance ( J:187714 )

• about half survive

cardiovascular system

abnormal cardiovascular development ( J:187714 )

• about half exhibit normal cardiovascular development

Allelic Composition	Ccm2l^tm1Mlkn/Ccm2l^tm1Mlkn Heg1^tm1Mlkn/Heg1^tm1Mlkn
Genetic Background	involves: 129 * C57BL/6

Find Mice

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:187714 )

• die between E9.5 and E11.5

cardiovascular system

trabecula carnea hypoplasia ( J:187714 )

• by E10.5

thin myocardium ( J:187714 )

• severe myocardial thinning by E10.5

dilated heart atrium ( J:187714 )

• by E10.5

decreased ventricle muscle contractility ( J:187714 )

• marked reduction in the systolic fractional shortening of the left ventricle at E10.5

decreased fetal cardiomyocyte proliferation ( J:187714 )

• at E10.5

cellular

decreased fetal cardiomyocyte proliferation ( J:187714 )

• at E10.5

muscle

trabecula carnea hypoplasia ( J:187714 )

• by E10.5

thin myocardium ( J:187714 )

• severe myocardial thinning by E10.5

decreased ventricle muscle contractility ( J:187714 )

• marked reduction in the systolic fractional shortening of the left ventricle at E10.5

decreased fetal cardiomyocyte proliferation ( J:187714 )

• at E10.5

Allelic Composition	Ccm2^{Gt(RRG051)Byg}/Ccm2⁺ Heg1^tm1Mlkn/Heg1⁺
Genetic Background	involves: 129/Sv * 129P2/OlaHsd * C57BL/6

Find Mice

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:146528 )

• die before E10

cardiovascular system

abnormal dorsal aorta morphology ( J:146528 )

• the paired dorsal aortas are small or undetectable and completely lack luminal blood at E9

abnormal cardinal vein morphology ( J:146528 )

• when visible the cardinal veins are devoid of luminal blood except at the point where it attaches to the sinus venosus

abnormal vascular endothelial cell development ( J:146528 )

• endothelial cells are present but fail to form lumenized vessels

abnormal vasculogenesis ( J:146528 )

• fail to form lumenized vessels

dilated aortic sac ( J:146528 )

• a dilated aortic sac is seen at E9

hemopericardium ( J:146528 )

• blood cells are frequently detected in the pericardial cavity

pericardial edema ( J:146528 )

• starting at E9

embryo

embryonic growth retardation ( J:146528 )

• starting at E9

homeostasis/metabolism

hemopericardium ( J:146528 )

• blood cells are frequently detected in the pericardial cavity

pericardial edema ( J:146528 )

• starting at E9

growth/size/body

embryonic growth retardation ( J:146528 )

• starting at E9

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