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Phenotypes Associated with This Genotype
Genotype
MGI:2182598
Allelic
Composition
Smad3tm1Cxd/Smad3tm1Cxd
Genetic
Background
either: (involves: 129S6/SvEvTac * C57BL/6) or (involves: 129S6/SvEvTac * NIH Black Swiss)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smad3tm1Cxd mutation (0 available); any Smad3 mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• the 70% of mice that suffer from growth retardation and develop a wasting syndrome, typically die between 1 and 3 months of age
• remaining 30% die between 3 and 8 months of age with a similar wasting syndrome

growth/size/body
• 70% are smaller than wild-type prior to weaning

immune system
• neutrophils show impaired chemotaxis to TGF-beta
• symptomatic mutants have an involuted thymus
• T cells invade normal regions of B cell development and germinal center formation in lymph nodes
• lymph node T cells from enlarged submandibular and mesenteric lymph nodes exhibit an activated phenotype with an increased number of CD62L cells
• multifocal formation of pyogenic abscesses, which are most often periorbital, periodontal, and within the wall of the stomach and the intestine
• symptomatic mutants show a reduction in the cellularity of the thymus
• absolute increase in white blood cell counts
• increased numbers of circulating neutrophils
• increased numbers of circulating monocytes
• symptomatic mutants have a small spleen
• symptomatic mutants show a reduction in the cellularity of the spleen
• symptomatic mutants have enlarged lymph nodes
• mediastinal, mandibular and mesenteric lymph nodes are enlarged in the majority of mutants; nodes display lymphoid hyperplasia, with extensive proliferation of T cells and an accumulation of plasma cells, effacing the normal node architecture
• inflammatory lesions in many organs, including the nasal mucosa, stomach, pancreas, colon and small intestine
• inflammatory lesions in the colon

hematopoietic system
• neutrophils show impaired chemotaxis to TGF-beta
• symptomatic mutants show a reduction in the cellularity of the thymus
• symptomatic mutants have an involuted thymus
• commonly see extramedullary hematopoiesis within the liver and spleen
• absolute increase in white blood cell counts
• increased numbers of circulating neutrophils
• increased numbers of circulating monocytes
• symptomatic mutants have a small spleen
• symptomatic mutants show a reduction in the cellularity of the spleen
• T cells invade normal regions of B cell development and germinal center formation in lymph nodes
• lymph node T cells from enlarged submandibular and mesenteric lymph nodes exhibit an activated phenotype with an increased number of CD62L cells

digestive/alimentary system
• rare (1 in 13 mice) development of colonic adenocardinomas in mice >6 months
• inflammatory lesions in the colon

endocrine/exocrine glands
• symptomatic mutants show a reduction in the cellularity of the thymus
• symptomatic mutants have an involuted thymus

skeleton
• symptomatic mutants have a kyphotic posture

neoplasm
• rare (1 in 13 mice) development of colonic adenocardinomas in mice >6 months

cellular
• neutrophils show impaired chemotaxis to TGF-beta


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/12/2024
MGI 6.23
The Jackson Laboratory