Phenotypes Associated with This Genotype

Genotype
MGI:3619991

• Allelic Composition: Eln^tm1Dyl/Eln^tm1Dyl
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

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

mortality/aging

postnatal lethality, complete penetrance ( J:47771 , J:110736 )

• die by P4.5 of an obstructive arterial disease (J:47771)

• no homozygotes survive past P3.5 (J:110736)

cardiovascular system

abnormal artery morphology ( J:47771 )

• increase in cellularity and reduction in luminal diameter in systemic and pulmonary arteries of all sizes, including distributing arteries and arterioles

abnormal artery development ( J:47771 )

• abnormal development of several different arteries (pulmonary arteriole, internal mammary artery, subclavian artery, and abdominal aorta)

abnormal pulmonary artery morphology ( J:47771 )

• increase in cellularity and reduction in luminal diameter

abnormal aorta wall morphology ( J:47771 )

• inner and outer diameters of the aorta become progressively smaller, starting at E17.5

• by P2.5, show a 76% increase in the number of cells in the aorta resulting in subendothelial accumulation of cells that eventually obliterates the vascular lumen

increased aorta wall thickness ( J:47771 )

• the arterial wall becomes progressively thicker, starting at E17.5

abnormal subclavian artery morphology ( J:47771 )

• increase in cellularity and reduction in luminal diameter

artery stenosis ( J:47771 )

• arterial diameter decreases due to subendothelial accumulation of arterial smooth muscle, eventually leading to obliteration of the lumen

abnormal vascular smooth muscle morphology ( J:47771 )

• accumulation of smooth muscle in arteries due to increased subendothelial proliferation

• reorientation of smooth muscle in arteries

muscle

abnormal vascular smooth muscle morphology ( J:47771 )

• accumulation of smooth muscle in arteries due to increased subendothelial proliferation

• reorientation of smooth muscle in arteries

respiratory system

abnormal lung development ( J:110736 )

• perinatal development of terminal airway branches is arrested

impaired lung alveolus development ( J:110736 )

• exhibit no increase in the number of distal air sacs between E18.5 and P0.5 as in wild-type

• radial alveolar count (RAC) fails to increase between E18.5 and P0.5 as in wild-type

• exhibit a decrease in secondary crest volume density during alveolization instead of the increase that is seen in wild-type

atelectasis ( J:110736 )

• by P2.5, areas of atelectasis are occasionally dispersed among the bullous-like lung tissue

overexpanded pulmonary alveolus ( J:110736 )

• at birth, lungs have larger distal air sacs and thinner surrounding walls

• at P0.5, the distal air sacs continue to expand, causing the intervening wall tissue to become progressively thinner

emphysema ( J:110736 )

• fewer distal air sacs that are dilated with attenuated tissue septae, a condition reminiscent of emphysema