Phenotypes Associated with This Genotype

Genotype
MGI:5641752

• Allelic Composition: Ltbp4^{Gt(E301B04)Wrst}/Ltbp4^{Gt(E301B04)Wrst}
• Genetic Background: B6N.129P2-Ltbp4^{Gt(E301B04)Wrst}

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

muscle

heart right ventricle hypertrophy ( J:221200 )

• mice develop cardiac hypertrophy of the right ventricle with flattening of the interventricular septum

mortality/aging

postnatal lethality, incomplete penetrance ( J:221200 )

• most mice die between P8 and P14

growth/size/body

enlarged heart ( J:221200 )

heart right ventricle hypertrophy ( J:221200 )

• mice develop cardiac hypertrophy of the right ventricle with flattening of the interventricular septum

decreased body size ( J:221200 )

decreased body weight ( J:221200 )

cardiovascular system

abnormal aorta morphology ( J:221200 )

• 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 )

• mice fail to form an intact elastic fiber network in aortas, showing elastic fiber fragmentation

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

increased aorta wall thickness ( J:221200 )

• aortic walls are twice as thick as in wild-type mice

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 )

heart right ventricle hypertrophy ( J:221200 )

• mice develop cardiac hypertrophy of the right ventricle with flattening of the interventricular septum

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

increased heart right ventricle wall thickness ( J:221200 )

• increase in right ventricular wall thickness

• however, no change is seen in the left ventricular walls

abnormal cardiovascular system physiology ( J:221200 )

• the left ventricular end-diastolic volume, the left ventricular end-systolic volume, and the stroke volume tend to be lower and the ejection fraction tends to be higher, but does not reach statistical significance

homeostasis/metabolism

impaired skin barrier function ( J:221200 )

• epidermal hydration is increased and transepidermal water loss tends to be higher

integument

impaired skin barrier function ( J:221200 )

• epidermal hydration is increased and transepidermal water loss tends to be higher

abnormal skin morphology ( J:221200 )

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

thin dermal layer ( J:221200 )

• reduction in dermal thickness, however epidermal thickness is normal

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 (ECM) deposition is defective in lung fibroblasts

• fibulin-4 ECM deposition into the ECM shows a punctuate deposition pattern

abnormal pulmonary alveolar system morphology ( J:221200 )

• lungs lack a lobular architecture and show severely enlarged alveolar spaces

atelectasis ( J:221200 )

• severe emphysema with extensive atelectatic areas

emphysema ( J:221200 )

• lungs exhibit emphysematous areas

abnormal pulmonary elastic fiber morphology ( J:221200 )

• mice fail to form an intact elastic fiber network in the lungs, showing elastic fiber fragmentation

abnormal respiratory system physiology ( J:221200 )

• reduction in oxygen saturation and partial oxygen pressure

respiratory distress ( J:221200 )

• seen by P9

digestive/alimentary system

rectal prolapse ( J:221200 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cutis laxa		DOID:3144	OMIM:PS123700	J:221200