Phenotypes associated with this allele

• Allele Symbol: Hey2^tm1Mtc
• Allele Name: targeted mutation 1, Michael T Chin
• Allele ID: MGI:2447620
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Hey2^tm1Mtc/Hey2^tm1Mtc	B6.Cg-Hey2^tm1Mtc	MGI:3654681
hm2	Hey2^tm1Mtc/Hey2^tm1Mtc	C.Cg-Hey2^tm1Mtc	MGI:3654682
hm3	Hey2^tm1Mtc/Hey2^tm1Mtc	involves: 129X1/SvJ	MGI:2669726
hm4	Hey2^tm1Mtc/Hey2^tm1Mtc	involves: 129X1/SvJ * C57BL/6	MGI:2669727

Genotype
MGI:3654681

hm1

• Allelic Composition: Hey2^tm1Mtc/Hey2^tm1Mtc
• Genetic Background: B6.Cg-Hey2^tm1Mtc

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

mortality/aging

lethality at weaning, incomplete penetrance ( J:105823 )

• exhibit decreased survival at 3 weeks of age due to cardiac defects

cardiovascular system

abnormal blood vessel morphology ( J:105823 )

abnormal pulmonary artery morphology ( J:105823 )

• the pulmonary artery shows thinner walls

decreased aorta wall thickness ( J:105823 )

• the ascending aorta and descending aorta exhibit thinner walls

abnormal atrioventricular valve morphology ( J:105823 )

abnormal mitral valve morphology ( J:105823 )

• Background Sensitivity: observe an increased percentage of mitral valve abnormalities than on the BALB/c background

thick mitral valve cusps ( J:105823 )

• Background Sensitivity: all homozygotes show mitral valve leaflet thickening that is not seen in the mixed 129X1/SvJ and C57BL/6 background

abnormal tricuspid valve morphology ( J:105823 )

• Background Sensitivity: some homozygotes develop tricuspid valve abnormalities that are not observed in the mixed 129X1/SvJ and C57BL/6 background

• Background Sensitivity: observe a lower percentage of abnormalities than on the BALB/c background

abnormal heart ventricle morphology ( J:105823 )

ventricular septal defect ( J:105823 )

• Background Sensitivity: 100% penetrance of ventricular septal defect that is much larger than on the BALB/c background

dilated heart left ventricle ( J:105823 )

• Background Sensitivity: seen as early as E15.5 on the C57BL/6 background but not on the BALB/c background

thin ventricular wall ( J:105823 )

• Background Sensitivity: seen as early as E15.5 in both the left and right ventricle, on the C57BL/6 background but not on the BALB/c background

Genotype
MGI:3654682

hm2

• Allelic Composition: Hey2^tm1Mtc/Hey2^tm1Mtc
• Genetic Background: C.Cg-Hey2^tm1Mtc

mortality/aging

lethality at weaning, incomplete penetrance ( J:105823 )

• exhibit decreased survival at 3 weeks of age due to cardiac defects

cardiovascular system

abnormal atrioventricular valve morphology ( J:105823 )

abnormal mitral valve morphology ( J:105823 )

• Background Sensitivity: exhibit fewer mitral valve abnormalities than on the C57BL/6 background

tricuspid valve atresia ( J:105823 )

• Background Sensitivity: observe a greater percentage of tricuspid valve abnormalities such as tricuspid stenosis or tricuspid atresia than on the C57BL/6 background

tricuspid valve stenosis ( J:105823 )

• Background Sensitivity: observe a greater percentage of tricuspid valve abnormalities such as tricuspid stenosis or tricuspid atresia than on the C57BL/6 background

abnormal heart septum morphology ( J:105823 )

• about 1/3 show dysmoprhic cardiac septation, characterized by a thin walled septum in the same region where the small VSDs are seen in other mice

ventricular septal defect ( J:105823 )

• Background Sensitivity: about 1/4 exhibit a ventricular septal defect (VSD) that is much smaller than on the C57BL/6 background and is localized to the portion of the septum separating the right ventricle from the aortic outflow region of the left ventricle

Genotype
MGI:2669726

hm3

• Allelic Composition: Hey2^tm1Mtc/Hey2^tm1Mtc
• Genetic Background: involves: 129X1/SvJ

mortality/aging

postnatal lethality, complete penetrance ( J:80681 )

• variable timing of death, mainly within 1 week of birth

• Background Sensitivity: mortality is more severe on the 129X1/SvJ background than on the mixed background involving both 129X1/SvJ and C57BL/6

cardiovascular system

cardiovascular system phenotype ( J:80681 )

N • no semilunar or atrioventricular valves abnormalities were observed

N • normal aorta, pulmonary artery, and coronary arteries

visceral vascular congestion ( J:80681 )

• most pups show severe pulmonary and liver congestion, suggestive of heart failure

liver vascular congestion ( J:80681 )

pulmonary vascular congestion ( J:80681 )

absent interventricular septum membranous part ( J:80681 )

• absence of membranous septum

perimembraneous ventricular septal defect ( J:80681 )

• absence of membranous septum

• observed in 8 of 9 perinatal mice

growth/size/body

postnatal growth retardation ( J:80681 )

liver/biliary system

liver vascular congestion ( J:80681 )

respiratory system

pulmonary vascular congestion ( J:80681 )

Genotype
MGI:2669727

hm4

• Allelic Composition: Hey2^tm1Mtc/Hey2^tm1Mtc
• Genetic Background: involves: 129X1/SvJ * C57BL/6

Hey2^tm1Mtc/Hey2^tm1Mtc mice have ventricular septal defects

mortality/aging

postnatal lethality, incomplete penetrance ( J:80681 )

• some mice surviving to adulthood

• Background Sensitivity: incomplete penetrance, less severe than on the 129X1/SvJ background

cardiovascular system

visceral vascular congestion ( J:80681 )

• most pups show severe pulmonary and liver congestion, suggestive of heart failure

liver vascular congestion ( J:80681 )

pulmonary vascular congestion ( J:80681 )

absent interventricular septum membranous part ( J:80681 )

• absence of membranous septum was observed in 4 of 6 perinatal mice

perimembraneous ventricular septal defect ( J:80681 )

• absence of membranous septum was observed in 4 of 6 perinatal mice

• however, normal semilunar and atrioventricular valves, aorta, pulmonary artery, and coronary artery morphology were seen

cardiac interstitial fibrosis ( J:80681 )

• seen in mutants that survive to adulthood

decreased cardiac muscle contractility ( J:80681 )

• systolic contractile dysfunction exhibited by surviving mice around 12 weeks of age

cardiomyopathy ( J:80681 )

• observed in 8 of 11 mixed background mice surviving to 40 weeks

growth/size/body

decreased body size ( J:80681 )

postnatal growth retardation ( J:80681 )

muscle

decreased cardiac muscle contractility ( J:80681 )

• systolic contractile dysfunction exhibited by surviving mice around 12 weeks of age

cardiomyopathy ( J:80681 )

• observed in 8 of 11 mixed background mice surviving to 40 weeks

liver/biliary system

liver vascular congestion ( J:80681 )

respiratory system

pulmonary vascular congestion ( J:80681 )

cellular

cardiac interstitial fibrosis ( J:80681 )

• seen in mutants that survive to adulthood