Phenotypes Associated with This Genotype

Genotype
MGI:5696792

• Allelic Composition: Adamtsl2^{tm1b(KOMP)Wtsi}/Adamtsl2^{tm1b(KOMP)Wtsi}
• Genetic Background: C57BL/6-Adamtsl2^{tm1b(KOMP)Wtsi}
• Cell Lines: Not Specified

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

mortality/aging

neonatal lethality ( J:221347 )

• most homozgyotes die within 24 hours of birth

respiratory system

abnormal bronchus epithelium morphology ( J:221347 )

• bronchial epithelial dysplasia is apparent at birth, with the lumina of the bronchus occluded by vesicular material

• bronchial epithelial cells are disorganized at birth, with enlarged abnormal vesicles continuous with the epithelial apical surface

• vesicles in the bronchial epithelium contain glycogen

respiratory distress ( J:221347 )

• gasping at birth

decreased respiration ( J:221347 )

• mutant lungs at birth are poorly aerated

homeostasis/metabolism

cyanosis ( J:221347 )

• at birth

muscle

muscle phenotype ( J:221347 )

N • the diapraghm is intact and the intercostal muscle fibers appear histologically normal indicating a non-muscle cause of respiratory insufficiency