Phenotypes Associated with This Genotype

Genotype
MGI:6197798

• Allelic Composition: Gli2^{tm1(cre/ERT2)Tipe}/Gli2⁺; Gt(ROSA)26Sor^{tm1(Smo/EYFP)Amc}/Gt(ROSA)26Sor⁺
• Genetic Background: involves: 129X1/SvJ

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

respiratory system

abnormal bronchioalveolar stem cell morphology ( J:264185 )

• alveolar stem cell renewal is disrupted, with tamoxifen-treated mice showing reduced fractions of SFTPC+ alveolar stem cells that incorporate BrdU during normal homeostasis and during injury with bleomycin

abnormal pulmonary alveolus morphology ( J:264185 )

• tamoxifen-treated mice show reduced density of alveoli in the distal lung

• tamoxifen-treated mice exhibit a more simplified alveolar structure in which secondary crests are absent from the enlarged alveoli

decreased type II pneumocyte number ( J:264185 )

• tamoxifen-treated mice show a loss of SFTPC+ type 2 pneumocytes from the distal alveolar region

overexpanded pulmonary alveolus ( J:264185 )

• tamoxifen-treated mice show enlarged alveolus size

emphysema ( J:264185 )

• tamoxifen-treated mice exhibit emphysematous changes in the alveolar airspace characterized by a 20% enlargement of airspace, increase in mean chord length, enlarged alveolus size, and reduced density of alveoli in the distal lung

• lungs of tamoxifen-treated mice show elevated low attenuation volume/total lung volume ratio, indicating airspace enlargement and emphysema

• however, no evidence of increased inflammatory cells or increased in the number of apoptotic cells in the lungs of tamoxifen-treated mice are seen

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
pulmonary emphysema		DOID:9675	OMIM:130700	J:264185