Phenotypes associated with this allele

• Allele Symbol: Hand1^tm1Jcc
• Allele Name: targeted mutation 1, James C Cross
• Allele ID: MGI:2153823
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Hand1^tm1Jcc/Hand1^tm1Jcc	involves: 129S1/Sv * 129X1/SvJ	MGI:2671595
hm2	Hand1^tm1Jcc/Hand1^tm1Jcc	involves: 129S1/Sv * 129X1/SvJ * CD-1	MGI:2176460
ht3	Hand1^tm1Jcc/Hand1^+	involves: 129S1/Sv * 129X1/SvJ * CD-1	MGI:2176461
ht4	Hand1^tm1Jcc/Hand1^tm2.1Jcc	involves: 129S1/Sv * 129X1/SvJ	MGI:5544639

Genotype
MGI:2671595

hm1

• Allelic Composition: Hand1^tm1Jcc/Hand1^tm1Jcc
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

mortality/aging

embryonic lethality, complete penetrance ( J:202357 )

• mice die by E8.5

reproductive system

abnormal embryo implantation ( J:202357 )

• smaller implantation site

embryo

abnormal extraembryonic tissue morphology ( J:202357 )

• blistered yolk sac

abnormal spongiotrophoblast cell morphology ( J:202357 )

• under-differentiated around implantation sites

cardiovascular system

failure of heart looping ( J:202357 )

Genotype
MGI:2176460

hm2

• Allelic Composition: Hand1^tm1Jcc/Hand1^tm1Jcc
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * CD-1

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:46383 )

• die between E9.5 and E10.5

embryo

embryonic growth arrest ( J:46383 )

• arrest by E7.5, with all mutants at E8.5 resembling the size of E7.5 embryos

abnormal extraembryonic tissue morphology ( J:46383 )

abnormal parietal yolk sac morphology ( J:46383 )

• parietal yolk sac is thin and has a reduced density of trophoblast giant cells

abnormal trophoblast giant cell morphology ( J:46383 )

• defects in trophoblast giant cell differentiation

decreased trophoblast giant cell number ( J:46383 )

small ectoplacental cone ( J:46383 )

• ectoplacental cone is about 20% of its normal size at E7.5 due to reduced trophoblast cell number

abnormal visceral yolk sac morphology ( J:46383 )

• visceral yolk sac has extensive hemorrhages and dilated cavities

Genotype
MGI:2176461

ht3

• Allelic Composition: Hand1^tm1Jcc/Hand1⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * CD-1

normal phenotype

no abnormal phenotype detected ( J:46383 )

Genotype
MGI:5544639

ht4

• Allelic Composition: Hand1^tm1Jcc/Hand1^tm2.1Jcc
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

mortality/aging

lethality, incomplete penetrance ( J:202357 )

• fewer than expected mice are produced

• however, surviving mice are normal

embryonic lethality during organogenesis, incomplete penetrance ( J:202357 )

• two-thirds of mice die between E10.5 and E14.5

embryo

abnormal pharyngeal arch development ( J:202357 )

• less developed

abnormal placenta morphology ( J:202357 )

• in 1 of 7 mice

decreased spongiotrophoblast cell number ( J:202357 )

• reduced cells in 1 of 7 mice

abnormal placenta labyrinth morphology ( J:202357 )

• limited branching morphogenesis of the labyrinth in 1 of 17 mice at E10.5

pale yolk sac ( J:202357 )

• in 1 of 17 mice

cardiovascular system

abnormal heart morphology ( J:202357 )

• in 7 of 17 mice at E10.5

craniofacial

abnormal craniofacial morphology ( J:202357 )

• in 4 of 17 mice at E10.5

nervous system

abnormal telencephalon development ( J:202357 )

• less developed

abnormal metencephalon morphology ( J:202357 )

• less developed