Analysis Tools
mortality/aging
|
• double homozygotes usually die within the first few months of life
• no double homozygotes survive beyond ~8 months
|
respiratory system
|
• although morphologically normal at P2, double mutant lungs fail to undergo secondary septation to delineate alveoli at P9 and retain a simplified, immature lung parenchyma architecture with abnormally smooth airway walls at P21
• however, no differences in surfactant protein production, cellular proliferation or apoptosis are observed
|
|
• double mutant lungs lack identifiable alveoli
|
|
• although outwardly normal, double mutant lungs are histologically emphysematous with a ~3-fold enlargement of the air spaces
|
|
• starting at ~P21 (i.e. after alveogenesis), double mutant lungs exhibit significantly increased levels of elastin deposition relative to control lungs
• however, no differences in elastin deposition or elastin fiber morphology are observed before or during alveogenesis
|
growth/size/body
|
• at weaning, double homozygotes are ~50% the size of control siblings, despite an apparently normal birth size
|
|
• double homozygotes exhibit significant postnatal growth retardation relative to control siblings
|
reproductive system
infertility
(
J:50677
)
|
• double homozygotes are largely infertile, although a few are able to produce progeny
|
homeostasis/metabolism
dehydration
(
J:50677
)
|
• double homozygotes appear sickly and dehydrated
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| lower respiratory tract disease | DOID:0050161 | J:50677 | ||
