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Phenotypes Associated with This Genotype
Genotype
MGI:4361456
Allelic
Composition
Thbs1tm1Hyn/Thbs1tm1Hyn
Genetic
Background
involves: 129S2/SvPas * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Thbs1tm1Hyn mutation (1 available); any Thbs1 mutation (28 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• tear peroxidase declines in older mice
• lacrimal function is lost as early as 8 weeks
• stimulated lacrimal function is abolished compared to in similarly treated wild-type lacrimal gland fragments
• lacrimal gland tissue produces more IL17 than in wild-type mice
• apoptosis in the lacrimal gland of young mice is increased compared to in wild-type mice
• mice exhibit deterioration in the lacrimal gland unlike wild-type mice
• apoptosis in the lacrimal gland of young mice is increased compared to in wild-type mice
• at 24 and 48 weeks, mononuclear infiltrates are increased compared to in wild-type mice
• mice exhibit an increase in CD4+ T cells compared with wild-type mice
• younger mice exhibit an increase in numbers goblet cells in the conjunctiva while in older mice they are decreased compared to in wild-type mice
• age-related decline in conjunctiva goblet cell density is worse than in wild-type mice
• older mice exhibit corneal edema unlike wild-type mice
• mice exhibit damage in the corneal epithelial barrier unlike wild-type mice
• mice exhibit a progressive reduction in eye size characterized by eye closure and eventual loss of the eye
• mice develop dry crusty eyes that eventually close

immune system
• at 24 and 48 weeks, mononuclear infiltrates are increased compared to in wild-type mice
• mice exhibit an increase in CD4+ T cells compared with wild-type mice
• the number of Foxp3+ regulatory T cells in the spleen is decreased compared to in wild-type mice
• in splenocytes of older mice
• at 8 to 12 weeks, mice exhibit a 2-fold increase in IL17+ splenocytes compared with wild-type mice
• lacrimal gland tissue produces more IL17 than in wild-type mice
• in older mice, IL17 secretion from splenocytes is increased compared to in wild-type mice
• at 8 weeks, mice exhibit an increase in serum anti-SSA and anti-SSB autoantibodies compared with wild-type mice

hematopoietic system
• the number of Foxp3+ regulatory T cells in the spleen is decreased compared to in wild-type mice

endocrine/exocrine glands
• stimulated lacrimal function is abolished compared to in similarly treated wild-type lacrimal gland fragments
• tear peroxidase declines in older mice
• lacrimal function is lost as early as 8 weeks
• lacrimal gland tissue produces more IL17 than in wild-type mice
• apoptosis in the lacrimal gland of young mice is increased compared to in wild-type mice
• mice exhibit deterioration in the lacrimal gland unlike wild-type mice
• apoptosis in the lacrimal gland of young mice is increased compared to in wild-type mice
• at 24 and 48 weeks, mononuclear infiltrates are increased compared to in wild-type mice
• mice exhibit an increase in CD4+ T cells compared with wild-type mice

cardiovascular system
• DEA/NO treatment causes a greater hypotensive effect than in controls
• significantly decreased relative to controls
• dark cycle mean arterial pressure is significantly increased relative to controls
• dark cycle diastolic pressure is increased relative to controls

integument
• hair is preserved after 25 Gy irradiation
• minimal or no skin ulceration 8 weeks after irradiation
• hair follicles and skin architecture are better preserved than in controls

muscle
N
• no leg muscle atrophy after irradiation
• limb flexibility maintained
• less loss of muscle fibers and nuclei after irradiation

cellular
N
• mitochondrial viability and function is preserved after irradiation
• apoptosis in the lacrimal gland of young mice is increased compared to in wild-type mice

Mouse Models of Human Disease
OMIM ID Ref(s)
Sjogren Syndrome 270150 J:153126


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/27/2016
MGI 6.05
The Jackson Laboratory