Phenotypes Associated with This Genotype

Genotype
MGI:4887356

• Allelic Composition: Cited2^tm1Ycy/Cited2^tm1Ycy
• Genetic Background: B6.Cg-Cited2^tm1Ycy

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

respiratory system

right pulmonary isomerism ( J:136063 )

• at E15.5-E18.5, 64% of mutant embryos show right pulmonary isomerism, i.e. 4 lung lobes on the right and 4 lobes on the left rather than the normal arrangement of 1 lobe on the left and 4 lobes on the right

abnormal lung development ( J:136063 )

• at E17.5-E18.5, all mutant embryos exhibit immature distal lungs

• at E18.5, expression of alveolar and Clara epithelial marker genes is reduced

• however, no obvious histological abnormalities in conducting airways are observed

impaired lung alveolus development ( J:136063 )

• mutant fetal lungs exhibit defects in terminal sac formation due to altered differentiation of alveolar epithelial cells and a reduced frequency of apoptotic alveolar cells

small lung lobe ( J:136063 )

• at E15.5-E18.5, mutant lung lobes are significantly reduced in size relative to wild-type lobes

abnormal pulmonary alveolus morphology ( J:136063 )

• at E17.5-E18.5, all mutant distal lungs display reduced terminal sac space with complete destruction of alveolar structure

abnormal pulmonary alveolus epithelial cell morphology ( J:136063 )

• at E17.5-E18.5, terminal sacs are surrounded by cuboidal type II cells and lack squamous type I cells, consistent with pulmonary immaturity

abnormal type I pneumocyte morphology ( J:136063 )

• at E18.5, squamous type I cells are absent

abnormal type II pneumocyte morphology ( J:136063 )

• at E18.5, cytoplasmic glycogen is dispersed, apical microvilli are smaller, and lamellar bodies are markedly reduced or undetected in type II epithelial cells

absent alveolar lamellar bodies ( J:136063 )

• lamellar bodies are markedly reduced or undetected in type II epithelial cells

abnormal surfactant secretion ( J:136063 )

• at E18.5, secreted surfactant proteins are markedly reduced in the lumen of peripheral airspace

growth/size/body

right pulmonary isomerism ( J:136063 )

• at E15.5-E18.5, 64% of mutant embryos show right pulmonary isomerism, i.e. 4 lung lobes on the right and 4 lobes on the left rather than the normal arrangement of 1 lobe on the left and 4 lobes on the right