Phenotypes associated with this allele

• Allele Symbol: Thbd^tm1Rdr
• Allele Name: targeted mutation 1, Robert D Rosenberg
• Allele ID: MGI:1857983
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Thbd^tm1Rdr/Thbd^tm1Rdr	involves: 129S2/SvPas	MGI:3621214
ht2	Thbd^tm1Rdr/Thbd^+	involves: 129S2/SvPas	MGI:3621215

Genotype
MGI:3621214

hm1

• Allelic Composition: Thbd^tm1Rdr/Thbd^tm1Rdr
• Genetic Background: involves: 129S2/SvPas

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:22630 )

• homozygotes undergo complete degeneration by E9.5

embryo

embryonic growth arrest ( J:22630 )

• between E7.5 and E8.5, homozygotes exhibit a virtual arrest of embryonic growth and development as a result of dysfunctional maternal-embryonic interactions

• however, in culture, E7.5 mutant embryos progress to a later developmental stage (up to 20 somite pairs vs 8-12 pairs in vivo), forming an extensive, anastomotic plexus of blood vessels in the visceral yolk sac and a regularly contracting heart

abnormal embryonic tissue morphology ( J:22630 )

• at E8.5, the cephalic volume is reduced

• however, homozygotes generally exhibit a normal cephalic region and head mesenchyme

cardiovascular system

abnormal heart development ( J:22630 )

• at E8.5, homozygotes typically display a heart with a single chamber instead of two distinct chambers

abnormal endocardium morphology ( J:22630 )

• at E8.5, homozygotes fail to exhibit an endocardium, although a normal myocardium is shown to surround the single cardiac chamber

Genotype
MGI:3621215

ht2

• Allelic Composition: Thbd^tm1Rdr/Thbd⁺
• Genetic Background: involves: 129S2/SvPas

normal phenotype

no abnormal phenotype detected ( J:22630 )

• heterozygotes are viable, healthy and fertile, and fail to exhibit a thrombotic phenotype