Phenotypes Associated with This Genotype

Genotype
MGI:5902325

• Allelic Composition: Yy1^tm2.1Yshi/Yy1^tm2.1Yshi; Tg(Nkx2-1-cre)2Sand/0
• Genetic Background: involves: 129S4/SvJae * C57BL/6J

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

mortality/aging

lethality at weaning, complete penetrance ( J:239777 )

• a small percentage of mutants survive up to weaning age

neonatal lethality, incomplete penetrance ( J:239777 )

• most mutants die at birth but some survive up to weaning age

neoplasm

increased blastoma incidence ( J:239777 )

• mice surviving to weaning exhibit characteristics of an evolving type I pleuropulmonary blastoma-like phenotype

respiratory system

lung cyst ( J:239777 )

• embryos exhibit cysts in the proximal region of lung lobes

• Type I and II pneumocytes, but not club and ciliated cells, are present along the cystic epithelium

• P21 lungs show multiocular cysts and variable septal thickness, small mesenchymal cells within the cyst walls, high proliferation levels of mesenchymal cells within the cystic wall

abnormal respiratory epithelium physiology ( J:239777 )

• increase in proliferation in E18.5 lungs

growth/size/body

lung cyst ( J:239777 )

• embryos exhibit cysts in the proximal region of lung lobes

• Type I and II pneumocytes, but not club and ciliated cells, are present along the cystic epithelium

• P21 lungs show multiocular cysts and variable septal thickness, small mesenchymal cells within the cyst walls, high proliferation levels of mesenchymal cells within the cystic wall

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
pleuropulmonary blastoma		DOID:4769		J:239777