Phenotypes Associated with This Genotype

Genotype
MGI:2182651

• Allelic Composition: Smad3^tm1Xfw/Smad3^tm1Xfw
• Genetic Background: involves: 129/Sv * C57BL/6

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

growth/size/body

decreased body size ( J:53948 )

• homozygotes are smaller than wild-type and heterozygous littermates

limbs/digits/tail

abnormal carpal bone morphology ( J:53948 )

• ~31% of mice have medially-torqued forepaws; one more limbs are affected

abnormal talus morphology ( J:53948 )

• a small percentage of animals have torqued hind limbs; one or more limbs are affected

skeleton

abnormal carpal bone morphology ( J:53948 )

• ~31% of mice have medially-torqued forepaws; one more limbs are affected

abnormal talus morphology ( J:53948 )

• a small percentage of animals have torqued hind limbs; one or more limbs are affected

abnormal thoracic cage morphology ( J:53948 )

• mice with severely affected limbs often display rib cage malformations

abnormal sternum morphology ( J:53948 )

• rib cage malformations often result in concave indentation at base of sternum

abnormal rib morphology ( J:53948 )

kyphosis ( J:53948 )

• mice with severely affected limbs often develop kyphosis

immune system

immune system phenotype ( J:53948 )

N • although mutant cells show abnormal properties in vitro, B and T cell maturation, and functions like antibody production are normal in vivo

abnormal B cell proliferation ( J:53948 )

• proliferation of activated cells is not inhibited by Tgfb as are wild-type cells

abnormal T cell proliferation ( J:53948 )

• proliferation of activated cells is not inhibited by Tgfb as are wild-type cells

abnormal cytokine secretion ( J:53948 )

• Tgfb inhibits cytokine production in stimulated primary splenocyte cultures, but effect is less in mutant cultures

cellular

abnormal cell proliferation ( J:53948 )

• transforming growth factor beta (Tgfb)-mediated cell autonomous proliferation in wild-type fibroblasts is decreased ~50% after 24 hours and 80% after 48 hours while mutant fibroblasts show little effect

abnormal B cell proliferation ( J:53948 )

• proliferation of activated cells is not inhibited by Tgfb as are wild-type cells

abnormal T cell proliferation ( J:53948 )

• proliferation of activated cells is not inhibited by Tgfb as are wild-type cells

hematopoietic system

abnormal B cell proliferation ( J:53948 )

• proliferation of activated cells is not inhibited by Tgfb as are wild-type cells

abnormal T cell proliferation ( J:53948 )

• proliferation of activated cells is not inhibited by Tgfb as are wild-type cells