Phenotypes Associated with This Genotype

Genotype
MGI:5660617

• Allelic Composition: Efemp2^tm1.1Chu/Efemp2^tm1.1Chu
• Genetic Background: B6(SJL)-Efemp2^tm1.1Chu

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

cardiovascular system

abnormal aorta elastic tissue morphology ( J:223792 )

♂ • elastic laminae of ascending aorta is thin and discontinuous, some discontinuities are observed in descending aorta

abnormal aorta smooth muscle morphology ( J:223792 )

♂ • round nuclei are predominant in the smooth muscle cells of the ascending and descending aortae, in contrast to elongated nuclei found in controls

increased aorta wall thickness ( J:223792 )

♂ • thickening of aortic wall is observed in the ascending and descending aortae

abnormal descending aorta morphology ( J:223792 )

♂

abnormal ascending aorta morphology ( J:223792 )

♂

dilated aorta bulb ( J:223792 )

♂ • 50% of males exhibit aortic root dilation by 7 months of age

♂ • increase in aortic diameter is two-fold compared to controls

ascending aorta aneurysm ( J:223792 )

♂ • 50% of males exhibit ascending aortic aneurysms by 7 months of age

increased artery tortuosity ( J:223792 )

♂ • all males exhibit arterial tortuosity

increased carotid artery tortuosity ( J:223792 )

♂ • left common carotid artery is tortuous

enlarged heart ( J:223792 )

♂ • enlarged hearts are observed in 12 month old males

growth/size/body

enlarged heart ( J:223792 )

♂ • enlarged hearts are observed in 12 month old males

integument

alopecia ( J:223792 )

♂ • 80% of males develop partial alopecia by one year of age

focal dorsal hair loss ( J:223792 )

♂ • patchy hair loss is observed in the back skin of 3-4 month old males

abnormal hypodermis muscle layer morphology ( J:223792 )

♂ • thinning of the panniculus carnosus muscle is observed in 5 day old males

abnormal cutaneous collagen fibril morphology ( J:223792 )

♂ • collagen fibers are smaller and less densely packed in 1 month old males

♂ • reduced numbers of collagen fibers are found in 3 month old males as compared to controls, however collagen content is normal

♂ • collagen fibrils are abnormally large and irregularly shaped

♂ • distribution of fibril diameter is broader and shifted toward larger mean diameters

abnormal cutaneous elastic fiber morphology ( J:223792 )

♂ • elastic fibers of the skin are reduced in number and fragmented

♂ • desmosine content of skin is reduced

♂ • elastic fibers of the dermis are smaller in size

♂ • elastic fibers are deficient in polymerized elastin

♂ • cross-linking of elastic fibers in the skin is substantially reduced

thin dermal layer ( J:223792 )

♂ • thinning of the dermis is observed in 5 day old and 3 month old males

loose skin ( J:223792 )

♂ • 50% of neonate males exhibit loose skin; the severity of the phenotype increases with age

limbs/digits/tail

abnormal forelimb morphology ( J:223792 )

♂ • 50% of neonate males exhibit bent forelimbs; the severity of the phenotype increases with age

♂ • bent limbs are often bilateral

muscle

abnormal aorta smooth muscle morphology ( J:223792 )

♂ • round nuclei are predominant in the smooth muscle cells of the ascending and descending aortae, in contrast to elongated nuclei found in controls

abnormal hypodermis muscle layer morphology ( J:223792 )

♂ • thinning of the panniculus carnosus muscle is observed in 5 day old males

abnormal tendon collagen fibril morphology ( J:223792 )

♂ • collagen fibers in the tendon are smaller with a high abundance of small diameter collagen fibrils

♂ • large diameter fibrils exhibit irregular contours

♂ • tendon fibril distribution is broader and shifted toward large diameters

♂ • spaces between collagen fibers of the tendon are wider than controls

♂ • tendon fibrils include a subpopulation of 50nm fibrils

respiratory system

overexpanded pulmonary alveolus ( J:223792 )

♂ • lung has enlarged airspaces

respiratory distress ( J:223792 )

♂ • some older mice develop respiratory distress with wheezing

wheezing ( J:223792 )

• some older mice develop respiratory distress with wheezing

skeleton

abnormal tendon collagen fibril morphology ( J:223792 )

♂ • collagen fibers in the tendon are smaller with a high abundance of small diameter collagen fibrils

♂ • large diameter fibrils exhibit irregular contours

♂ • tendon fibril distribution is broader and shifted toward large diameters

♂ • spaces between collagen fibers of the tendon are wider than controls

♂ • tendon fibrils include a subpopulation of 50nm fibrils

vision/eye

blepharoptosis ( J:223792 )

♂ • 50% of neonate old males exhibit droopy eyelids; the severity of the phenotype increases with age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cutis laxa		DOID:3144	OMIM:PS123700	J:223792