Phenotypes Associated with This Genotype

Genotype
MGI:5569826

• Allelic Composition: Tg(AGER)#Eca/Tg(AGER)#Eca
• Genetic Background: C57BL/6J-Tg(AGER)#Eca

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:205092 )

• postnatal mortality greater than 50% due to respiratory failure

growth/size/body

postnatal growth retardation ( J:205092 )

• delay in body development

respiratory system

abnormal lung vasculature morphology ( J:205092 )

• abnormal vascular development

• vascular changes consist of mild medial thickening and abnormalities in elastic fiber architecture

decreased lung endothelial cell proliferation ( J:205092 )

• cell proliferation is reduced in lung epithelia at the beginning of the alveolarization phase compared to controls which show an increase in proliferation

abnormal lung alveolus development ( J:205092 )

• poor alveolar development, with an increase in mean linear intercept and a decrease in internal surface area of lungs

• decrease in volume density ratio of secondary alveolar crests

abnormal lung interstitium morphology ( J:205092 )

• areas of alveolar interstitium thickening

abnormal pulmonary alveolar system morphology ( J:205092 )

• alveolar hypoplasia, with a decrease in alveolar number and internal surface area

abnormal pulmonary alveolus wall morphology ( J:205092 )

• mice show an increase in the number of TUNEL-positive cells in the alveolar walls at P4, P8, P20 and P30 indicating increased apoptosis

decreased pulmonary alveolus wall thickness ( J:205092 )

• thin alveolar walls

overexpanded pulmonary alveolus ( J:205092 )

• dilated airspaces, with thin alveolar walls interspersed between focal and widened septa

abnormal pulmonary interalveolar septum morphology ( J:205092 )

• thin alveolar walls are interspersed between focal and widened septa

• hypercellular septa

emphysema ( J:205092 )

• increase in alveolar destructive index and persistent inflammation leads to destructive emphysema

abnormal pulmonary elastic fiber morphology ( J:205092 )

• alveolar elastic fiber organization and deposition are impaired

respiratory failure ( J:205092 )

• respiratory failure with postnatal mortality greater than 50%

cardiovascular system

abnormal lung vasculature morphology ( J:205092 )

• abnormal vascular development

• vascular changes consist of mild medial thickening and abnormalities in elastic fiber architecture

cellular

decreased lung endothelial cell proliferation ( J:205092 )

• cell proliferation is reduced in lung epithelia at the beginning of the alveolarization phase compared to controls which show an increase in proliferation

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
lower respiratory tract disease		DOID:0050161		J:205092