Phenotypes associated with this allele

• Allele Symbol: Hand1^tm1Eno
• Allele Name: targeted mutation 1, Eric N Olson
• Allele ID: MGI:2153824
• Summary: 9 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Hand1^tm1Eno/Hand1^tm1Eno	involves: 129S7/SvEvBrd * C57BL/6	MGI:2176457
ht2	Hand1^tm1Eno/Hand1^+	involves: 129S7/SvEvBrd * C57BL/6	MGI:2176459
ht3	Hand1^tm1Eno/Hand1^tm2Eno	either: (involves: 129S6/SvEvTac * Black Swiss) or (involves: 129S6/SvEvTac * C57BL/6)	MGI:3514052
cn4	Hand1^tm1Eno/Hand1^tm2Eno Tg(Myh6-cre)2182Mds/0	either: (involves: 129S6/SvEvTac * Black Swiss) or (involves: 129S6/SvEvTac * C57BL/6)	MGI:3514054
cn5	Hand1^tm1Eno/Hand1^tm2Eno Tg(Nkx2-5-cre)9Eno/0	either: (involves: 129S6/SvEvTac * Black Swiss) or (involves: 129S6/SvEvTac * C57BL/6)	MGI:3514074
cn6	Hand1^tm1Eno/Hand1^tm2Eno Rr133^tm1Eno/Rr133^+ Tg(Nkx2-5-cre)9Eno/0	either: (involves: 129S6/SvEvTac * Black Swiss) or (involves: 129S6/SvEvTac * C57BL/6)	MGI:3514076
cn7	Hand1^tm1Eno/Hand1^tm2Eno Rr133^tm1Eno/Rr133^tm1Eno Tg(Nkx2-5-cre)9Eno/0	either: (involves: 129S6/SvEvTac * Black Swiss) or (involves: 129S6/SvEvTac * C57BL/6)	MGI:3514077
cx8	Hand1^tm1Eno/Hand1^+ Hand2os1^em1Eno/Hand2os1^+	involves: 129S7/SvEvBrd * C57BL/6	MGI:5906410
cx9	Hand1^tm1Eno/Hand1^+ Rr133^tm1Eno/Rr133^tm1Eno	Not Specified	MGI:3514081

Genotype
MGI:2176457

hm1

• Allelic Composition: Hand1^tm1Eno/Hand1^tm1Eno
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:46384 )

• die between E8.5 and E9.5

cardiovascular system

absent vitelline blood vessels ( J:46384 )

• yolk sacs lack defined vascularization

abnormal heart development ( J:46384 )

• posterior region of the forming heart tube fails to fuse

abnormal heart looping ( J:46384 )

• heart tube forms but looping is abnormal

embryo

absent vitelline blood vessels ( J:46384 )

• yolk sacs lack defined vascularization

abnormal embryo turning ( J:46384 )

• fail to undergo turning at the 8-somite stage

embryonic growth retardation ( J:46384 )

• by E8.5, begin to show delayed growth

abnormal neural tube morphology ( J:46384 )

• neural tubes are often crooked

abnormal amnion morphology ( J:46384 )

• amnion appears thickened and fails to completely enclose the body of the embryo, resulting in abnormal fusion of the amniotic and exocoelomic cavities

abnormal chorion morphology ( J:46384 )

excessive folding of visceral yolk sac ( J:46384 )

• yolk sacs have a rough, folded appearance in the area of contact with the ectoplacental cone

• show separation between the endodermal and mesodermal layers and the outer endodermal layer is extensively folded

abnormal chorioallantoic fusion ( J:46384 )

nervous system

abnormal neural tube morphology ( J:46384 )

• neural tubes are often crooked

growth/size/body

embryonic growth retardation ( J:46384 )

• by E8.5, begin to show delayed growth

Genotype
MGI:2176459

ht2

• Allelic Composition: Hand1^tm1Eno/Hand1⁺
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

normal phenotype

no abnormal phenotype detected ( J:46384 )

Genotype
MGI:3514052

ht3

• Allelic Composition: Hand1^tm1Eno/Hand1^tm2Eno
• Genetic Background: either: (involves: 129S6/SvEvTac * Black Swiss) or (involves: 129S6/SvEvTac * C57BL/6)

normal phenotype

no abnormal phenotype detected ( J:94514 )

Genotype
MGI:3514054

cn4

• Allelic Composition: Hand1^tm1Eno/Hand1^tm2Eno; Tg(Myh6-cre)2182Mds/0
• Genetic Background: either: (involves: 129S6/SvEvTac * Black Swiss) or (involves: 129S6/SvEvTac * C57BL/6)

mortality/aging

postnatal lethality, incomplete penetrance ( J:94514 )

• most mutants die within 3 days of birth with only 4% surviving to P10 and less than 2% reaching adulthood

cardiovascular system

abnormal atrioventricular cushion morphology ( J:94514 )

• immature endocardial cushions are seen in mutant hearts at E13.5

double outlet right ventricle ( J:94514 )

overriding aortic valve ( J:94514 )

abnormal atrioventricular valve morphology ( J:94514 )

• hyperplastic atrioventicular valves are seen in all mutants and these valves are thickened in neonates

perimembraneous ventricular septal defect ( J:94514 )

• 90% of mutants have membranous ventricular septal defects and these defects can be detected as early as E10.5

abnormal interventricular septum muscular part morphology ( J:94514 )

• the muscular ventricular septum is thickened and disorganized

decreased heart left ventricle size ( J:94514 )

• at E11.5 and E13.5 the left ventricle is reduced in size, however the size is normal at birth

homeostasis/metabolism

cyanosis ( J:94514 )

• most mutants become cyanotic within 3 days of birth

Genotype
MGI:3514074

cn5

• Allelic Composition: Hand1^tm1Eno/Hand1^tm2Eno; Tg(Nkx2-5-cre)9Eno/0
• Genetic Background: either: (involves: 129S6/SvEvTac * Black Swiss) or (involves: 129S6/SvEvTac * C57BL/6)

mortality/aging

postnatal lethality, complete penetrance ( J:94514 )

• most mutants die within 2-4 days of birth

cardiovascular system

abnormal heart morphology ( J:94514 )

• heart defects similar to those seen in compound heterozygotes hemizygous for Tg(Myhca-cre)2182Mds are found

Genotype
MGI:3514076

cn6

• Allelic Composition: Hand1^tm1Eno/Hand1^tm2Eno; Rr133^tm1Eno/Rr133⁺; Tg(Nkx2-5-cre)9Eno/0
• Genetic Background: either: (involves: 129S6/SvEvTac * Black Swiss) or (involves: 129S6/SvEvTac * C57BL/6)

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:94514 )

• no mutant embryos are found after E10.5

cardiovascular system

abnormal myocardial trabeculae morphology ( J:94514 )

• at E10.5 the myocardium is poorly trabeculated

thin myocardium ( J:94514 )

• at E10.5 the myocardium is thin

embryo

embryonic growth retardation ( J:94514 )

• at E10.5 mutant embryos appear slightly delayed compared to compound heterozygotes lacking only Hand1

muscle

abnormal myocardial trabeculae morphology ( J:94514 )

• at E10.5 the myocardium is poorly trabeculated

thin myocardium ( J:94514 )

• at E10.5 the myocardium is thin

growth/size/body

embryonic growth retardation ( J:94514 )

• at E10.5 mutant embryos appear slightly delayed compared to compound heterozygotes lacking only Hand1

Genotype
MGI:3514077

cn7

• Allelic Composition: Hand1^tm1Eno/Hand1^tm2Eno; Rr133^tm1Eno/Rr133^tm1Eno; Tg(Nkx2-5-cre)9Eno/0
• Genetic Background: either: (involves: 129S6/SvEvTac * Black Swiss) or (involves: 129S6/SvEvTac * C57BL/6)

mortality/aging

embryonic lethality between somite formation and embryo turning, complete penetrance ( J:94514 )

• no mutant embryos are found after E9.0

cardiovascular system

abnormal myocardium layer morphology ( J:94514 )

• at E9.0 some segments of the myocardial wall contain cells that resemble mesenchymal cells rather than cardiomyocytes

abnormal heart atrium morphology ( J:94514 )

• at E9.0 only a single atrium is present

abnormal heart ventricle morphology ( J:94514 )

• at E9.0 only a single immature ventricle is present and the lumen of the ventricle is abnormally narrow

trabecula carnea hypoplasia ( J:94514 )

muscle

abnormal myocardium layer morphology ( J:94514 )

• at E9.0 some segments of the myocardial wall contain cells that resemble mesenchymal cells rather than cardiomyocytes

trabecula carnea hypoplasia ( J:94514 )

Genotype
MGI:5906410

cx8

• Allelic Composition: Hand1^tm1Eno/Hand1⁺; Hand2os1^em1Eno/Hand2os1⁺
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

mortality/aging

embryonic lethality, complete penetrance ( J:241318 )

cardiovascular system

common ventricle ( J:241318 )

• left-sided

pericardial effusion ( J:241318 )

• at E11.5

growth/size/body

embryonic growth retardation ( J:241318 )

• at E11.5

embryo

embryonic growth retardation ( J:241318 )

• at E11.5

homeostasis/metabolism

pericardial effusion ( J:241318 )

• at E11.5

Genotype
MGI:3514081

cx9

• Allelic Composition: Hand1^tm1Eno/Hand1⁺; Rr133^tm1Eno/Rr133^tm1Eno
• Genetic Background: Not Specified

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:94514 )

• no mutant embryos are found after E9.5

cardiovascular system

abnormal myocardium layer morphology ( J:94514 )

• the myocardium is poorly developed at E9.0

abnormal heart ventricle morphology ( J:94514 )

• at E9.0 only a single ventricle is present and the size of the ventricular lumen is decreased compared to Hand2 homozygotes as a result of an increase in the amount of cardiac jelly

muscle

abnormal myocardium layer morphology ( J:94514 )

• the myocardium is poorly developed at E9.0