Phenotypes associated with this allele

• Allele Symbol: Hand1^tm5Abfi
• Allele Name: targeted mutation 5, Anthony B Firulli
• Allele ID: MGI:6766586
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Hand1^tm5Abfi/Hand1^+ Nkx2-5^tm1(cre)Rjs/Nkx2-5^+	involves: 129S7/SvEvBrd	MGI:6766587
cn2	Hand1^tm5Abfi/Hand1^+ Tg(Myh6-cre)2182Mds/0	involves: FVB/N	MGI:6766588
cn3	Hand1^tm5Abfi/Hand1^+ Tg(Mef2c-cre)2Blk/0	Not Specified	MGI:6766589

Genotype
MGI:6766587

cn1

• Allelic Composition: Hand1^tm5Abfi/Hand1⁺; Nkx2-5^tm1(cre)Rjs/Nkx2-5⁺
• Genetic Background: involves: 129S7/SvEvBrd

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

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:311466 )

• no mutants are recovered beyond E15.5

cardiovascular system

abnormal myocardial trabeculae morphology ( J:311466 )

• hypotrabeculation

thin left ventricle myocardium compact layer ( J:311466 )

• left ventricle compact zone is thin

• however, left ventricle chamber size is proportional to right ventricle size and to controls

thin myocardium ( J:311466 )

• thin walled myocardium

abnormal cardiac outflow tract development ( J:311466 )

• elongated outflow tract; the outflow tracts extend farther into the forming right ventricle

abnormal interventricular septum morphology ( J:311466 )

• poorly formed interventricular septum that is positioned to the right of the endocardial cushions

ventricular septal defect ( J:311466 )

• E14.5 hearts exhibit ventricular septal defects both membranous and muscular in nature

decreased heart right ventricle size ( J:311466 )

• right ventricle appears smaller

hemorrhage ( J:311466 )

cellular

increased cell death ( J:311466 )

• hearts show increased cell death within the cardiac ventricles and the outflow tract

• however, cell proliferation is not altered

homeostasis/metabolism

cardiac edema ( J:311466 )

• the right ventricle shows signs of edema

muscle

abnormal myocardial trabeculae morphology ( J:311466 )

• hypotrabeculation

thin left ventricle myocardium compact layer ( J:311466 )

• left ventricle compact zone is thin

• however, left ventricle chamber size is proportional to right ventricle size and to controls

thin myocardium ( J:311466 )

• thin walled myocardium

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	hypoplastic left heart syndrome	DOID:9955	OMIM:241550 OMIM:614435	J:311466

Genotype
MGI:6766588

cn2

• Allelic Composition: Hand1^tm5Abfi/Hand1⁺; Tg(Myh6-cre)2182Mds/0
• Genetic Background: involves: FVB/N

mortality/aging

lethality during fetal growth through weaning, incomplete penetrance ( J:311466 )

• expected numbers of embryos are obtained at E10.5 and E14.5 but reduced numbers of neonates are seen at P1

cardiovascular system

abnormal heart apex morphology ( J:311466 )

• hearts lack a well-defined apex at P60

cardiac hypertrophy ( J:311466 )

• bifurcated hearts appear slightly hypertrophied at P60

• however, cardiac morphology appears normal at E14.5

growth/size/body

cardiac hypertrophy ( J:311466 )

• bifurcated hearts appear slightly hypertrophied at P60

• however, cardiac morphology appears normal at E14.5

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	hypoplastic left heart syndrome	DOID:9955	OMIM:241550 OMIM:614435	J:311466

Genotype
MGI:6766589

cn3

• Allelic Composition: Hand1^tm5Abfi/Hand1⁺; Tg(Mef2c-cre)2Blk/0
• Genetic Background: Not Specified

cardiovascular system

abnormal cardiac outflow tract development ( J:311466 )

• elongated outflow tract

decreased heart right ventricle size ( J:311466 )

• right ventricle size appears reduced at E14.5 and at P60

• however, mice exhibit a normal left ventricle chamber

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	hypoplastic left heart syndrome	DOID:9955	OMIM:241550 OMIM:614435	J:311466