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Phenotypes Associated with This Genotype
Genotype
MGI:2655257
Allelic
Composition
Col3a1Tsk2/Col3a1+
Genetic
Background
C3H101H-Col3a1Tsk2/H
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col3a1Tsk2 mutation (2 available); any Col3a1 mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
adipose tissue
• at 7-8 months of age, heterozygotes display significant infiltration of mononuclear inflammatory cells in the adipose tissue septa

cellular
N
• immunohistochemistry of endothelial cells from interscapular skin sections does not show indication of abnormal apoptosis, a symptom found in human scleroderma

immune system
• at 7-8 months of age, heterozygotes display significant infiltration of mononuclear inflammatory cells in the adipose tissue septa
• at 7-8 months of age, heterozygotes display significant infiltration of mononuclear inflammatory cells in the lower dermis
• some mononuclear inflammatory cells are already present in skin at 10 days of age

integument
• at 7-8 months of age, heterozygotes display significant infiltration of mononuclear inflammatory cells in the lower dermis
• some mononuclear inflammatory cells are already present in skin at 10 days of age
• on average, the hydroxyproline (collagen) content in mutant skin samples from the interscapular region is 50% higher than that in wild-type samples (J:31216)
• densitometric analysis revealed that mutant skin samples contain 3-4-fold more collagen than wild-type samples; however, no qualitative differences in the populations of collagenous proteins are observed (J:31216)
• reticular fibers in the skin thicken and become more pronounced as mice age (J:215227)
• dermal thickness is significantly increased at 10 days and 7-8 months of age
• at 3 months of age, the mean interscapular skin thickness is 0.8 mm relative to 0.5 mm in wild-type mice
• heterozygotes can be detected by the tightness of the skin over the shoulders when picked up (J:14073)
• mutant mice can be classified between one and two weeks of age (J:14073)
• heterozygotes develop a tight skin phenotype that is first evident in the interscapular region at 10-14 days of age (J:31216)
• at 7-8 months of age, heterozygotes display skin fibrosis, with excessive accumulation of densely packed connective tissue in the dermis, extending into the subdermal adipose tissue and into the panniculus carnosus
• excessive deposition of thick collagen fibers is already noted at 10 days of age

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
systemic scleroderma DOID:418 OMIM:181750
J:31216


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
11/05/2019
MGI 6.14
The Jackson Laboratory