Phenotypes associated with this allele

• Allele Symbol: Hey2^tm1Gess
• Allele Name: targeted mutation 1, Manfred Gessler
• Allele ID: MGI:2387937
• Summary: 7 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Hey2^tm1Gess/Hey2^tm1Gess	B6.129P2-Hey2^tm1Gess	MGI:3620644
hm2	Hey2^tm1Gess/Hey2^tm1Gess	involves: 129P2/OlaHsd	MGI:3789050
hm3	Hey2^tm1Gess/Hey2^tm1Gess	involves: 129P2/OlaHsd * C57BL/6	MGI:2450864
hm4	Hey2^tm1Gess/Hey2^tm1Gess	involves: 129P2/OlaHsd * CD-1	MGI:3620645
cx5	Hey1^tm1Gess/Hey1^+ Hey2^tm1Gess/Hey2^tm1Gess	involves: 129 * C57BL/6	MGI:3043227
cx6	Hey1^tm1Gess/Hey1^tm1Gess Hey2^tm1Gess/Hey2^+	involves: 129 * C57BL/6	MGI:3043228
cx7	Hey1^tm1Gess/Hey1^tm1Gess Hey2^tm1Gess/Hey2^tm1Gess	involves: 129 * C57BL/6	MGI:3043229

Genotype
MGI:3620644

hm1

• Allelic Composition: Hey2^tm1Gess/Hey2^tm1Gess
• Genetic Background: B6.129P2-Hey2^tm1Gess

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

Ventricular and atrial septal defects in Hey2^tm1Gess/Hey2^tm1Gess mice

mortality/aging

postnatal lethality, incomplete penetrance ( J:93980 )

• Background Sensitivity: 80-90% die within 10 days after birth, unlike on a CD-1 background in which lethality rates are much lower

cardiovascular system

abnormal cardiovascular system morphology ( J:93980 )

• Background Sensitivity: exhibit more severe cardiac defects on the C57BL/6 background than on a CD-1 background

tricuspid valve atresia ( J:93980 )

• 8 of 15 at E13.5-E16.5 lack an open connection between the right atrium and ventricle, although the leaflets of the tricuspid valve are formed

tricuspid valve stenosis ( J:93980 )

patent cardiac foramen ovale ( J:93980 )

• show persistent foramen ovale

perimembraneous ventricular septal defect ( J:93980 )

• Background Sensitivity: ventricular septal defects are much more severe than on a CD-1 background

• high incidence of ventricular septal defects that are consistently located in the upper membranous part of the ventricular septum, just below the atrioventricular junction

abnormal heart shape ( J:93980 )

• the few mice surviving to adulthood show altered heart shapes but no valve or septum defects

Genotype
MGI:3789050

hm2

• Allelic Composition: Hey2^tm1Gess/Hey2^tm1Gess
• Genetic Background: involves: 129P2/OlaHsd

cardiovascular system

abnormal cardiac epithelial to mesenchymal transition ( J:133699 )

• atrioventricular canal explants from E9.5 embryos show a strong reduction in the number of fully transformed, elongated mesenchymal cells indicating impaired epithelial to mesenchymal transition

perimembraneous ventricular septal defect ( J:133699 )

• at E15.5, all mice show a ventricular membranous septal defect very similar to that in Heyl^tm1Gess Hey1^tm1Gess double homozygous mice

Genotype
MGI:2450864

hm3

• Allelic Composition: Hey2^tm1Gess/Hey2^tm1Gess
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

mortality/aging

postnatal lethality, incomplete penetrance ( J:79024 )

• incomplete penetrance; 80% fail to thrive and die by 10 days of age

cardiovascular system

myocardial fiber disarray ( J:79024 )

• fiber disarray

heart left ventricle hypertrophy ( J:79024 )

heart right ventricle hypertrophy ( J:79024 )

atrial septal defect ( J:79024 )

• only identified in higher C57BL/6 backcross generations

ventricular septal defect ( J:79024 )

• only identified in higher C57BL/6 backcross generations

increased heart weight ( J:79024 )

• 30-300% increase in heart to body weight ratios

• normal aorta, however, with normal diameter and no evidence of stenosis or atresia

cardiac fibrosis ( J:79024 )

• mild fibrosis

growth/size/body

heart left ventricle hypertrophy ( J:79024 )

heart right ventricle hypertrophy ( J:79024 )

increased heart weight ( J:79024 )

• 30-300% increase in heart to body weight ratios

• normal aorta, however, with normal diameter and no evidence of stenosis or atresia

postnatal growth retardation ( J:79024 )

• failure to thrive within the first 10 days of life

• progeny that survive to weaning gradually reach normal body weight by 2-3 mo

muscle

myocardial fiber disarray ( J:79024 )

• fiber disarray

heart left ventricle hypertrophy ( J:79024 )

heart right ventricle hypertrophy ( J:79024 )

Genotype
MGI:3620645

hm4

• Allelic Composition: Hey2^tm1Gess/Hey2^tm1Gess
• Genetic Background: involves: 129P2/OlaHsd * CD-1

Ventricular and atrial septal defects in Hey2^tm1Gess/Hey2^tm1Gess mice

mortality/aging

postnatal lethality, incomplete penetrance ( J:93980 )

• Background Sensitivity: lethality rates are much lower than in the C57BL/6 background, and in higher backcross generations almost all homozygotes survive

cardiovascular system

ventricular septal defect ( J:93980 )

• Background Sensitivity: 55.6% of embryos at E16.5 show ventricular septal defects, much less than on a CD-1 background, and do not show any other cardiac defects

Genotype
MGI:3043227

cx5

• Allelic Composition: Hey1^tm1Gess/Hey1⁺; Hey2^tm1Gess/Hey2^tm1Gess
• Genetic Background: involves: 129 * C57BL/6

mortality/aging

premature death ( J:89444 )

• by P21 - P28 far fewer mutants are found than expected

• adult mutants also display additional adult lethality from an unknown caus

Genotype
MGI:3043228

cx6

• Allelic Composition: Hey1^tm1Gess/Hey1^tm1Gess; Hey2^tm1Gess/Hey2⁺
• Genetic Background: involves: 129 * C57BL/6

mortality/aging

prenatal lethality, incomplete penetrance ( J:89444 )

• embryonic survival is reduced by 60% compared to wild-type of Hey1^tm1Gess homozygous littermates

Genotype
MGI:3043229

cx7

• Allelic Composition: Hey1^tm1Gess/Hey1^tm1Gess; Hey2^tm1Gess/Hey2^tm1Gess
• Genetic Background: involves: 129 * C57BL/6

mortality/aging

prenatal lethality, complete penetrance ( J:89444 )

• no double homozygous embryos survive and all show abnormalities by E10.5

cardiovascular system

abnormal artery morphology ( J:89444 )

• reduction in expression of arterial specific markers suggests impaired arterial cell fate specification in double homozygotes

abnormal dorsal aorta morphology ( J:89444 )

• the dorsal aortae are frequently reduced or missing on one or both sides of double homozygous embryos probably as a result of impaired aortic wall formation

abnormal intersomitic vessel morphology ( J:89444 )

• intersomitic vessels formed by angiogenetic sprouting do form but appear less organized than in controls

abnormal placental labyrinth vasculature morphology ( J:89444 )

• at E10.5 no embryonic blood vessels can be detected in the labyrinthine layer

• however, embryonic vessels are seen in the allantois and chorionic plate

abnormal cardinal vein morphology ( J:89444 )

• the cardinal veins are frequently reduced or missing on one or both sides of double homozygous embryos

decreased angiogenesis ( J:89444 )

• vascular patterning is coarse especially in the head with many truncated vessels without finely branched trees

absent myocardial trabeculae ( J:89444 )

• at E9.5 the heart lacks trabeculae

thin myocardium ( J:89444 )

• at E9.5 the heart has initiated looping but the myocardium is much thinner

abnormal heart ventricle morphology ( J:89444 )

• at E9.5 - E10.5 the ventricular portion of the heart does not fully enlarge however contractions and blood circulation appear to occur

distended pericardium ( J:89444 )

• at E10.5 balloon like pericardial sacs are seen in homozygous mutants

hemorrhage ( J:89444 )

• at E9.5 evidence of hemorrhage can be seen

• at E10.5 massive hemorrhage is seen in the head, trunk, and pericardial cavity of homozygous mutants

embryo

embryonic growth retardation ( J:89444 )

• at E9.5 double homozygous embryos appear developmentally retarded

abnormal neural tube morphology ( J:89444 )

• at E9.5 the neural tube is thinner and the surrounding mesenchymal cells appear sparse

incomplete somite formation ( J:89444 )

• somite formation ceases after E9.5 after 21-26 somites although the somites that do form are normal in size and shape

abnormal placenta labyrinth morphology ( J:89444 )

• at E10.5 the labyrinthine layer lacks fetal blood circulation and appears very cell-rich without the intermingling of maternal and embryonic blood spaces seen in controls

abnormal placental labyrinth vasculature morphology ( J:89444 )

• at E10.5 no embryonic blood vessels can be detected in the labyrinthine layer

• however, embryonic vessels are seen in the allantois and chorionic plate

abnormal umbilical cord morphology ( J:89444 )

• formation of an umbilical cord is initiated; however, after E9.5 the connection between embryo and placenta does not mature into a thicker umbilical cord

pale yolk sac ( J:89444 )

abnormal vitelline vascular remodeling ( J:89444 )

• at E9.5 the primitive vascular plexus is present but fails to remodel and by E10.5 is unchanged or degenerating

• by E11.5 when most double homozygous embryos are necrotic no vasculature is left in the yolk sac

muscle

absent myocardial trabeculae ( J:89444 )

• at E9.5 the heart lacks trabeculae

thin myocardium ( J:89444 )

• at E9.5 the heart has initiated looping but the myocardium is much thinner

nervous system

abnormal neural tube morphology ( J:89444 )

• at E9.5 the neural tube is thinner and the surrounding mesenchymal cells appear sparse

growth/size/body

embryonic growth retardation ( J:89444 )

• at E9.5 double homozygous embryos appear developmentally retarded