Phenotypes Associated with This Genotype

Genotype
MGI:5313383

• Allelic Composition: Fbn1^tm3.2Lysa/Fbn1^tm3.2Lysa
• Genetic Background: Not Specified

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

Thick skin in Fbn1^tm3.2Lysa/Fbn1⁺ and Fbn1^tm3.2Lysa/Fbn1^tm3.2Lysa mice

integument

decreased subcutaneous adipose tissue amount ( J:181493 )

abnormal skin morphology ( J:181493 )

• mice exhibit thickened and less elastic skin compared to in wild-type mice

abnormal dermal layer morphology ( J:181493 )

• excessive collagen deposition

thick dermal layer ( J:181493 )

thick skin ( J:181493 )

• persisting through old age

limbs/digits/tail

brachyphalangia ( J:181493 )

• short proximal and distal phalanges in the fore and hind paws at 3 to 4 weeks of age

short radius ( J:181493 )

• at 1 month of age

short ulna ( J:181493 )

• at 1 month of age

short tibia ( J:181493 )

• at 1 month of age

short metacarpal bones ( J:181493 )

• at 3 to 4 weeks of age

adipose tissue

decreased subcutaneous adipose tissue amount ( J:181493 )

cardiovascular system

cardiovascular system phenotype ( J:181493 )

N • in contrast to Fbn1-targeted mouse models of Marfan Syndrome, aortic root morphology is normal

skeleton

decreased length of long bones ( J:181493 )

• at 3 to 4 weeks of age

brachyphalangia ( J:181493 )

• short proximal and distal phalanges in the fore and hind paws at 3 to 4 weeks of age

short radius ( J:181493 )

• at 1 month of age

short ulna ( J:181493 )

• at 1 month of age

short tibia ( J:181493 )

• at 1 month of age

short metacarpal bones ( J:181493 )

• at 3 to 4 weeks of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	Marfan syndrome	DOID:14323	OMIM:154700	J:181493
Weill-Marchesani syndrome		DOID:0050475	OMIM:277600 OMIM:608328 OMIM:613195 OMIM:614819 OMIM:PS277600	J:181493