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Phenotypes Associated with This Genotype
Genotype
MGI:3604814
Allelic
Composition
Fbn1Tsk/Fbn1+
Genetic
Background
B10.D2/(58N)Sn
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fbn1Tsk mutation (2 available); any Fbn1 mutation (6 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• excessive growth of connective tissue and skeleton (J:5629)
• increase in skeletal size, however body weight is not increased (J:5629)
• excessive growth of connective tissue and skeleton (J:5629)
• increase in skeletal size, however body weight is not increased (J:5629)
• longer skull (J:5629)
• longer skull (J:5629)
• longer and wider mandible (J:5629)
• longer and wider mandible (J:5629)
• small tendons with hyperplasia of tendon sheaths or with accumulation of fluid within the sheath (J:5629)
• in older mice, some tendons show degenerative changes with increased cellularity and decreased amount of collagen (J:5629)
• small tendons with hyperplasia of tendon sheaths or with accumulation of fluid within the sheath (J:5629)
• in older mice, some tendons show degenerative changes with increased cellularity and decreased amount of collagen (J:5629)
• long bones and girdles are about 5% larger (J:5629)
• long bones and girdles are about 5% larger (J:5629)
• pelvic bone is about 10% larger (J:5629)
• pelvic bone is about 10% larger (J:5629)
• longer ribs (J:5629)
• longer ribs (J:5629)
• enlarged in both length and width (J:5629)
• enlarged in both length and width (J:5629)
• increase in growth of cartilage (J:5629)
• longer length of the ear cartilage (J:5629)
• increase in growth of cartilage (J:5629)
• longer length of the ear cartilage (J:5629)
• longer length of the fourth tracheal ring (J:5629)
• longer length of the fourth tracheal ring (J:5629)
• costal cartilages are elongated and more bowed than normal (J:5629)
• costal cartilages are elongated and more bowed than normal (J:5629)

cardiovascular system
• enlarged but not as much as the auricles (J:5629)
• enlarged but not as much as the auricles (J:5629)

respiratory system
• lungs become abnormally distended in enlarged thorax (J:5629)
• lungs become abnormally distended in enlarged thorax (J:5629)
• vesicular emphysema (J:5629)
• vesicular emphysema (J:5629)
• longer length of the fourth tracheal ring (J:5629)
• longer length of the fourth tracheal ring (J:5629)

muscle
• small tendons with hyperplasia of tendon sheaths or with accumulation of fluid within the sheath (J:5629)
• in older mice, some tendons show degenerative changes with increased cellularity and decreased amount of collagen (J:5629)
• small tendons with hyperplasia of tendon sheaths or with accumulation of fluid within the sheath (J:5629)
• in older mice, some tendons show degenerative changes with increased cellularity and decreased amount of collagen (J:5629)

behavior/neurological
• develop a pronounced hump in the shoulder region and hunched posture with age (J:5629)
• develop a pronounced hump in the shoulder region and hunched posture with age (J:5629)

craniofacial
• longer skull (J:5629)
• longer skull (J:5629)
• longer and wider mandible (J:5629)
• longer and wider mandible (J:5629)

growth/size/body
• enlarged thorax causing distension of the thoracic viscera (J:5629)
• enlarged thorax causing distension of the thoracic viscera (J:5629)

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)
• 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 more lamellar (J:6273)
• fascicles of unusually thin collagen fibrils are found in scattered areas of the hypodermis (J:6273)
• hypodermis is substantially thicker (J:6273)
• hypodermis is substantially thicker (J:6273)
• dermis fibroblasts often contain greatly distended rough endoplasmic reticulum cisternae (J:6273)
• 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 (J:6273)
• dermis fibroblasts often contain greatly distended rough endoplasmic reticulum cisternae (J:6273)
• 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 (J:6273)
• fibrous organization of collagen fibrils is not distinctly visible in the hyalinized areas of the superficial dermis (J:6273)
• fibrous organization of collagen fibrils is not distinctly visible in the hyalinized areas of the superficial dermis (J:6273)
• reticular dermis of skin is consistently thicker and often more cellular than that of wild-type (J:6273)
• reticular dermis of skin is consistently thicker and often more cellular than that of wild-type (J:6273)
• skin tightness is not seen at birth but develops during the first postnatal week (J:5629)
• 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)
• 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)
• 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 ID Ref(s)
Marfan Syndrome; MFS 154700 J:21512


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
01/26/2016
MGI 6.02
The Jackson Laboratory