Phenotypes Associated with This Genotype

Genotype
MGI:3789306

• Allelic Composition: Gt(ROSA)26Sor^{tm1(Tgfbr1*)Crm}/Gt(ROSA)26Sor⁺; Tg(Col1a2-cre/ERT,-ALPP)7Cpd/0
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * DBA/2

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

adipose tissue

decreased subcutaneous adipose tissue amount ( J:134135 )

• at 5 months after tamoxifen injections

cardiovascular system

abnormal blood vessel morphology ( J:134135 )

abnormal artery morphology ( J:134135 )

• in tamoxifen-treated mice the walls of small arteries in the lungs, kidneys, and adrenal glands are thickened compared to oil-treated controls

• thickened vessels in the lungs show hypertrophy of the smooth muscle layers

abnormal kidney arterial blood vessel morphology ( J:134135 )

• in tamoxifen-treated mice the walls of small arteries in the kidneys are thickened compared to oil-treated controls

abnormal lung vasculature morphology ( J:134135 )

• in tamoxifen-treated mice the walls of small arteries in the lungs are thickened compared to oil-treated controls

• thickened vessels in the lungs show hypertrophy of the smooth muscle layers

vascular smooth muscle hypertrophy ( J:134135 )

• seen in thickened small arteries in the lungs of tamoxifen-treated mice

abnormal blood vessel physiology ( J:134135 )

• increased expression of Vwf in lung vessels of tamoxifen-treated mice suggestive of endothelial cell damage and similar to what is seen in human scleroderma patients

renal/urinary system

abnormal kidney arterial blood vessel morphology ( J:134135 )

• in tamoxifen-treated mice the walls of small arteries in the kidneys are thickened compared to oil-treated controls

renal interstitial fibrosis ( J:134135 )

• increase in type I collagen deposition in the interstitium of tamoxifen-treated mice

growth/size/body

decreased body weight ( J:134135 )

• in mice, injected with tamoxifen for 5 consecutive days starting at 2 weeks of age, at 5 months of age compared to control littermates

respiratory system

abnormal lung vasculature morphology ( J:134135 )

• in tamoxifen-treated mice the walls of small arteries in the lungs are thickened compared to oil-treated controls

• thickened vessels in the lungs show hypertrophy of the smooth muscle layers

muscle

vascular smooth muscle hypertrophy ( J:134135 )

• seen in thickened small arteries in the lungs of tamoxifen-treated mice

integument

decreased subcutaneous adipose tissue amount ( J:134135 )

• at 5 months after tamoxifen injections

sparse hair ( J:134135 )

• loss of hair on the back, head, chest, and sides and around the ears and nose in mice injected with tamoxifen for 5 consecutive days starting at 2 weeks of age

abnormal dermal layer morphology ( J:134135 )

• tamoxifen-treated mice show progressive dermal fibrosis beginning by 1 month post injection

• a 2.3-fold in total collagen and disorganized collagen fibrils with increased variability in the size and shape of fibrils are seen in the skin of tamoxifen-treated mice

thick dermal layer ( J:134135 )

• dramatic increase in thickness at 5 months after tamoxifen injections

thin epidermis ( J:134135 )

• at 5 months after tamoxifen injections

abnormal skin condition ( J:134135 )

• increase in skin fragility at 5 months after tamoxifen injections

thick skin ( J:134135 )

• skin feels thicker and rougher in tamoxifen treated mice compared to littermate controls

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
systemic scleroderma		DOID:418	OMIM:181750	J:134135