Mouse Genome Informatics
cn
    Ptentm1Hwu/Ptentm1Hwu
Twist2tm1.1(cre)Dor/Twist2+

B6.129-Twist2tm1.1(cre)Dor Ptentm1Hwu
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• mutants with less severe phenotypes die within 2-3 hours of birth, displaying cyanosis, chest retractions, and dyspnea
• lethality between E15.5 and E18.5

respiratory system
• increase in collagen deposition in the lungs
• alveolar spaces are frequently lined by cuboidal cells with immature lamellar bodies
• reduction in distal capillary network density in E15.5 lungs
• the capillary network is misaligned with corresponding respiratory airways (airway/capillary uncoupling or dysplasia) at E18.5
• increase in the distance between the capillaries and the lumen of the airways
• marker analysis indicates expansion of the distal epithelial progenitor cell domain
• E18.5 lungs exhibit a hypercellular mesenchymal compartment
• more than 5-fold increase in the number of CD45-CD31+ embryonic mesenchymal progenitor side population (E-SP) and CD45-CD31- E-SP cell populations in E17.5 lungs indicating an increase in lung mesenchymal progenitor cell populations
• in mutants with less severe phenotypes that die within hours of birth

cardiovascular system
• reduction in distal capillary network density in E15.5 lungs
• the capillary network is misaligned with corresponding respiratory airways (airway/capillary uncoupling or dysplasia) at E18.5
• increase in the distance between the capillaries and the lumen of the airways
• 44% of embryos lack of vascularization in entire embryos at E15.5
• E15.5 embryos show lack of vascularization in organs such as limbs and liver
• impaired differentiation of angioblasts into mature endothelial cells and blood vessels
• 15% of embryos exhibit hemorrhage at E18.5

homeostasis/metabolism
• newborns show a decrease in blood oxygenation
• in mutants with less severe phenotypes that die within hours of birth

Mouse Models of Human Disease
OMIM IDRef(s)
Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins; 265380 J:192736