Mouse Genome Informatics
ht
    Fbn1Tsk/Fbn1+
B10.D2/(58N)Sn
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
skeleton
• excessive growth of connective tissue and skeleton
• increase in skeletal size, however body weight is not increased
• longer skull
• longer and wider mandible
• small tendons with hyperplasia of tendon sheaths or with accumulation of fluid within the sheath
• in older mice, some tendons show degenerative changes with increased cellularity and decreased amount of collagen
• long bones and girdles are about 5% larger
• pelvic bone is about 10% larger
• longer ribs
• enlarged in both length and width
• increase in growth of cartilage
• longer length of the ear cartilage
• longer length of the fourth tracheal ring
• costal cartilages are elongated and more bowed than normal

cardiovascular system
• enlarged but not as much as the auricles

respiratory system
• lungs become abnormally distended in enlarged thorax
• vesicular emphysema
• longer length of the fourth tracheal ring

muscle
• small tendons with hyperplasia of tendon sheaths or with accumulation of fluid within the sheath
• in older mice, some tendons show degenerative changes with increased cellularity and decreased amount of collagen

behavior/neurological
• develop a pronounced hump in the shoulder region and hunched posture with age

craniofacial
• longer skull
• longer and wider mandible

growth/size
• enlarged thorax causing distension of the thoracic viscera

integument
• hyperplasia of the subcutaneous loose connective tissue (J:5629)
• in loose connective tissue, exhibit large accumulations of microfibrils in the intercellular space (J:5629)
• hypodermis is more lamellar (J:6273)
• fascicles of unusually thin collagen fibrils are found in scattered areas of the hypodermis (J:6273)
• hypodermis is substantially thicker
• dermis fibroblasts often contain greatly distended rough endoplasmic reticulum cisternae
• collagen fibrils within the fascicles of the dermis are less ordered and the fascicles are thinner and more closely packed and appear to bend and twist more along their course
• fibrous organization of collagen fibrils is not distinctly visible in the hyalinized areas of the superficial dermis
• reticular dermis of skin is consistently thicker and often more cellular than that of wild-type
• skin tightness is not seen at birth but develops during the first postnatal week (J:5629)
• caused by hyperplasia of subcutaneous loose connective tissue (J:27521)
• skin is firmly bound to subcutaneous and deep muscular tissue (J:32931)
• skin lacks normal pliability and elasticity (J:32931)

Mouse Models of Human Disease
OMIM IDRef(s)
Marfan Syndrome; MFS 154700 J:21512
NOT Pituitary Adenoma, Growth Hormone-Secreting 102200 J:5629