Phenotypes associated with this allele

• Allele Symbol: Tgfbr3^tm1.1Jba
• Allele Name: targeted mutation 1.1, Joey V Barnett
• Allele ID: MGI:3818438
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Tgfbr3^tm1.1Jba/Tgfbr3^tm1.1Jba	involves: 129S6/SvEvTac	MGI:7437703
hm2	Tgfbr3^tm1.1Jba/Tgfbr3^tm1.1Jba	involves: 129S6/SvEvTac * C57BL/6	MGI:3818444

Genotype
MGI:7437703

hm1

• Allelic Composition: Tgfbr3^tm1.1Jba/Tgfbr3^tm1.1Jba
• Genetic Background: involves: 129S6/SvEvTac

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

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:218259 )

• die at E15.5

craniofacial

abnormal palate development ( J:218259 )

• increase in apoptosis in the palatal shelves both anteriorly and posteriorly at E13.5 but not E14.5

• decrease in cell proliferation in the shelves at E14.5

• impaired vasculogenesis in the palatal shelves at E13.5 and E14.5

• expression analysis indicates abnormal arterial and venous specification in palatal shelf vasculature at E13.5 and E14.5

abnormal palatal shelf bone ossification ( J:218259 )

• reduced ossification in palatal and maxillary mesenchyme

failure of palatal shelf elevation ( J:218259 )

• at E14.5

• fail to elevate in culture

abnormal palatal shelf fusion at midline ( J:218259 )

• when apposed in culture, shelves fail to complete fusion by dissolution of the medial edge epithelium

decreased palatal shelf size ( J:218259 )

• decreased width at E13.5

• at E14.5 anterior and posterior shelf heights are significantly reduced

• at E14.5 palatal shelf width is decreased anteriorly but not posteriorly

decreased tongue size ( J:218259 )

• decrease in tongue width at E14.5

cardiovascular system

abnormal vasculogenesis ( J:218259 )

• impaired vasculogenesis in the palatal shelves at E13.5 and E14.5

• expression analysis indicates abnormal arterial and venous specification in palatal shelf vasculature at E13.5 and E14.5

digestive/alimentary system

abnormal palate development ( J:218259 )

• increase in apoptosis in the palatal shelves both anteriorly and posteriorly at E13.5 but not E14.5

• decrease in cell proliferation in the shelves at E14.5

• impaired vasculogenesis in the palatal shelves at E13.5 and E14.5

• expression analysis indicates abnormal arterial and venous specification in palatal shelf vasculature at E13.5 and E14.5

abnormal palatal shelf bone ossification ( J:218259 )

• reduced ossification in palatal and maxillary mesenchyme

failure of palatal shelf elevation ( J:218259 )

• at E14.5

• fail to elevate in culture

abnormal palatal shelf fusion at midline ( J:218259 )

• when apposed in culture, shelves fail to complete fusion by dissolution of the medial edge epithelium

decreased palatal shelf size ( J:218259 )

• decreased width at E13.5

• at E14.5 anterior and posterior shelf heights are significantly reduced

• at E14.5 palatal shelf width is decreased anteriorly but not posteriorly

decreased tongue size ( J:218259 )

• decrease in tongue width at E14.5

growth/size/body

abnormal palate development ( J:218259 )

• increase in apoptosis in the palatal shelves both anteriorly and posteriorly at E13.5 but not E14.5

• decrease in cell proliferation in the shelves at E14.5

• impaired vasculogenesis in the palatal shelves at E13.5 and E14.5

• expression analysis indicates abnormal arterial and venous specification in palatal shelf vasculature at E13.5 and E14.5

abnormal palatal shelf bone ossification ( J:218259 )

• reduced ossification in palatal and maxillary mesenchyme

failure of palatal shelf elevation ( J:218259 )

• at E14.5

• fail to elevate in culture

abnormal palatal shelf fusion at midline ( J:218259 )

• when apposed in culture, shelves fail to complete fusion by dissolution of the medial edge epithelium

decreased palatal shelf size ( J:218259 )

• decreased width at E13.5

• at E14.5 anterior and posterior shelf heights are significantly reduced

• at E14.5 palatal shelf width is decreased anteriorly but not posteriorly

decreased tongue size ( J:218259 )

• decrease in tongue width at E14.5

skeleton

abnormal palatal shelf bone ossification ( J:218259 )

• reduced ossification in palatal and maxillary mesenchyme

Genotype
MGI:3818444

hm2

• Allelic Composition: Tgfbr3^tm1.1Jba/Tgfbr3^tm1.1Jba
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:141344 )

• homozygous embryos die at E14.5 due to defects in coronary vasculogenesis

cardiovascular system

abnormal vasculogenesis ( J:141344 )

• E14 embryos have defects in coronary vasculogenesis

• the developing vascular plexus is much less pronounced than wild-type and fewer vessels form on both the ventral and dorsal surfaces of the heart

• large coronary vessels are absent and instead null hearts often have PECAM-positive structures reminiscent of blood islands

• at E13.5, the lumen of coronary vessels are often misshaped

thin myocardium ( J:141344 )

• is observed in 40% of E14 embryos

• a thin compact zone myocardium is also noted in E13.5 embryos

abnormal truncus arteriosus septation ( J:141344 )

• ventricular septal defect is noted in 72.7% of E14 embryos

transposition of great arteries ( J:141344 )

• the aorta rises from the right ventricle, or right ventricle has two openings in 63.3% of E14 embryos

abnormal epicardium morphology ( J:141344 )

• in E13.5 embryos, the separation between the epicardium and myocardium is expanded and contains numerous mesenchymal cells

• this thick, hypercellular layer expands across the surface of the ventricles and atria, and contains many blood islands

muscle

thin myocardium ( J:141344 )

• is observed in 40% of E14 embryos

• a thin compact zone myocardium is also noted in E13.5 embryos