Phenotypes Associated with This Genotype

Genotype
MGI:4943503

• Allelic Composition: Tgfbr2^tm1.2Hlm/Tgfbr2^tm1.2Hlm; Twist2^tm1(cre)Dor/Twist2⁺
• Genetic Background: involves: 129X1/SvJ * C57BL/6

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

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:143910 )

• fetuses die by E16-E17 due to multi-organ abnormalities

respiratory system

abnormal branching involved in lung morphogenesis ( J:143910 )

• epithelial branching morphogenesis is disrupted causing cystic malformations in proximal airways

• however, lung epithelial cell identity and differentiation remain unaffected

abnormal lung lobe morphology ( J:143910 )

• at E15.5, both the shape and size of lung lobes is abnormal

• however, the overall process of lobation and number of lobes are normal

abnormal bronchus morphology ( J:143910 )

• abnormal epithelial morphogenesis results in cystic, dilated bronchi that lack parabronchial smooth muscle cells

abnormal bronchial cartilage morphology ( J:143910 )

• at E15.5, the first and the second generation bronchi are devoid of cartilage

dilated respiratory conducting tube ( J:143910 )

• at E15.5, fetuses display large, dilated proximal airways lined with columnar epithelial cells

abnormal tracheal cartilage morphology ( J:143910 )

• at E15.5, both the number and shape of tracheal cartilage is abnormal

decreased tracheal cartilage ring number ( J:143910 )

• at E15.5, the number of tracheal cartilage rings appears to be reduced

skeleton

abnormal tracheal cartilage morphology ( J:143910 )

• at E15.5, both the number and shape of tracheal cartilage is abnormal

decreased tracheal cartilage ring number ( J:143910 )

• at E15.5, the number of tracheal cartilage rings appears to be reduced