Phenotypes associated with this allele

• Allele Symbol: Tgfbr3^tm1Stv
• Allele Name: targeted mutation 1, Kaye Stenvers
• Allele ID: MGI:2664514
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Tgfbr3^tm1Stv/Tgfbr3^tm1Stv	involves: 129/Sv * C57BL/6	MGI:2668844

Genotype
MGI:2668844

hm1

• Allelic Composition: Tgfbr3^tm1Stv/Tgfbr3^tm1Stv
• Genetic Background: involves: 129/Sv * C57BL/6

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

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:83727 )

• most homozygotes died before birth but after E14.5

• between E16.5 and E18.5 surviving homozygotes were small, pale, and moribund

• by E18.5 homozygotes represented only 5% of living embryos

• only 4 out of 1323 offspring born were homozygotes

cardiovascular system

decreased myocardial fiber number ( J:83727 )

• reduced numbers of myocytes with abnormal morphology

ventricle myocardium hypoplasia ( J:83727 )

• in about 50% of embryos between E14.5 and E18.5, the myocardial wall of the heart ventricles fail to thicken in the region of the compact zone

trabecula carnea hypoplasia ( J:83727 )

• trabiculae reduced in mass

abnormal interventricular septum muscular part morphology ( J:83727 )

• thin, poorly cohesive muscular ventricular septum, which in severely affected embryos was accompanied by a ventricular septal defect

muscular ventricular septal defect ( J:83727 )

• seen in severely affected embryos

abnormal fetal cardiomyocyte proliferation ( J:83727 )

• the percentage of proliferating myocytes within the ventricular wall, as indexed by PCNA immunostaining, was significantly reduced at E14.5

hematopoietic system

abnormal definitive hematopoiesis ( J:83727 )

abnormal spleen morphology ( J:83727 )

• bifurcated spleen in the female homozygote

decreased spleen white pulp amount ( J:83727 )

• the single surviving female mouse exhibited slightly reduced white pulp compared to age matched heterozygotes

immune system

abnormal spleen morphology ( J:83727 )

• bifurcated spleen in the female homozygote

decreased spleen white pulp amount ( J:83727 )

• the single surviving female mouse exhibited slightly reduced white pulp compared to age matched heterozygotes

limbs/digits/tail

absent deltoid tuberosity ( J:83727 )

abnormal femur morphology ( J:83727 )

abnormal trochanter morphology ( J:83727 )

• missing third trochanter

liver/biliary system

abnormal liver development ( J:83727 )

• foci of apoptotic cell death observed between E13.5 and E14.5; thereafter, severe liver degeneration, hemorrhaging and loss of ultrastructure were noted

• no cell adhesion defect noted

muscle

decreased myocardial fiber number ( J:83727 )

• reduced numbers of myocytes with abnormal morphology

ventricle myocardium hypoplasia ( J:83727 )

• in about 50% of embryos between E14.5 and E18.5, the myocardial wall of the heart ventricles fail to thicken in the region of the compact zone

trabecula carnea hypoplasia ( J:83727 )

• trabiculae reduced in mass

abnormal fetal cardiomyocyte proliferation ( J:83727 )

• the percentage of proliferating myocytes within the ventricular wall, as indexed by PCNA immunostaining, was significantly reduced at E14.5

reproductive system

abnormal fertility/fecundity ( J:83727 )

• homozygotes that survived past birth were poorly fertile but otherwise normal

skeleton

absent deltoid tuberosity ( J:83727 )

abnormal femur morphology ( J:83727 )

abnormal trochanter morphology ( J:83727 )

• missing third trochanter

abnormal axial skeleton morphology ( J:83727 )

abnormal sternum morphology ( J:83727 )

rib fusion ( J:83727 )

abnormal skeleton development ( J:83727 )

• generalized reduction in size and ossification throughout the skeleton in about 50% of homozygotes

cellular

abnormal fetal cardiomyocyte proliferation ( J:83727 )

• the percentage of proliferating myocytes within the ventricular wall, as indexed by PCNA immunostaining, was significantly reduced at E14.5