Phenotypes Associated with This Genotype

Genotype
MGI:4458340

• Allelic Composition: Ltbp4^{Gt(U3Cre)1Vmel}/Ltbp4^{Gt(U3Cre)1Vmel}
• Genetic Background: involves: 129S2/SvPas

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

respiratory system

abnormal lung morphology ( J:221200 )

• the normal fibrillar structure of fibulin-5 is disrupted in the lungs and is replaced by scattered amorphous patches

• fibulin-5 extracellular matrix deposition is defective in lung fibroblasts

abnormal pulmonary alveolar system morphology ( J:221200 )

• lungs exhibit enlarged alveolar spaces with multifocal areas of atelectasis

• reduction in the number of alveoli

atelectasis ( J:221200 )

emphysema ( J:160854 )

• mice exhibit lungs with massive enlargement of airspaces distal to the terminal bronchioles and destruction of septal walls without fibrosis unlike wild-type mice

abnormal pulmonary elastic fiber morphology ( J:160854 , J:221200 )

• mice exhibit fragmentation of elastic fibers unlike in wild-type mice (J:160854)

• elastic fiber fragmentation in lungs; elastic fibers, although fragmented, consist of short intact fibers dispersed between scattered patches of elastin (J:221200)

increased lung compliance ( J:160854 )

• lung compliance is increased compared to in wild-type mice

cardiovascular system

abnormal aorta morphology ( J:221200 )

• aortas are malformed and tortuous

• the normal fibrillar structure of fibulin-5 is disrupted in the aorta and is replaced by scattered amorphous patches

abnormal aorta elastic fiber morphology ( J:221200 )

• elastic fiber fragmentation in the aorta; elastic fibers, although fragmented, consist of short intact fibers dispersed between scattered patches of elastin

• aortas exhibit only moderate disruptions of the internal elastic lamella adjacent to the endothelial lining

abnormal interventricular septum morphology ( J:221200 )

• mice develop flattened interventricular septae resulting in a more oval shape of the left ventricle on short axis views

enlarged heart ( J:221200 )

abnormal heart left ventricle morphology ( J:221200 )

• the left ventricle is more oval in shape, rather than rounded, on short axis views, due to a flattened interventricular septum

integument

abnormal skin morphology ( J:221200 )

• the net-elasticity of the skin tends to be lower

mortality/aging

mortality/aging ( J:221200 )

N • mice survive to adulthood

growth/size/body

enlarged heart ( J:221200 )