Phenotypes Associated with This Genotype

Genotype
MGI:3604814

• Allelic Composition: Fbn1^Tsk/Fbn1⁺
• Genetic Background: B10.D2/(58N)Sn

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

skeleton

abnormal skeleton morphology ( J:5629 )

• excessive growth of connective tissue and skeleton

• increase in skeletal size, however body weight is not increased

enlarged cranium ( J:5629 )

• longer skull

long mandible ( J:5629 )

• longer and wider mandible

abnormal tendon morphology ( J:5629 )

• tail and ankle tendons are sgnificantly smaller in size

• in older mice, some tendons show degenerative changes with increased cellularity and decreased amount of collagen

abnormal tendon sheath morphology ( J:5629 )

• in the tail, tendon size reduction is often associated with hyperplasia of the tendon sheath or with accumulation of fluid with the sheath

• ankle tendons show hyperplasia of the tendon sheath as well as hyperplasia of the loose connective tissue between the tendons

increased length of long bones ( J:5629 )

• long bones and girdles are about 5% larger

abnormal pelvic girdle bone morphology ( J:5629 )

• pelvic bone is about 10% larger

long ribs ( J:5629 )

• longer ribs

enlarged lumbar vertebrae ( J:5629 )

• enlarged in both length and width

abnormal cartilage morphology ( J:5629 )

• increase in growth of cartilage

• longer length of the ear cartilage

abnormal tracheal cartilage morphology ( J:5629 )

• longer length of the fourth tracheal ring

abnormal costal cartilage morphology ( J:5629 )

• costal cartilages are elongated and more bowed than normal

cardiovascular system

dilated heart atrium ( J:5629 )

enlarged heart ( J:5629 )

cardiac hypertrophy ( J:32931 )

dilated heart right ventricle ( J:5629 )

• enlarged but not as much as the auricles

respiratory system

abnormal lung morphology ( J:5629 )

• lungs become abnormally distended in enlarged thorax

emphysema ( J:5629 )

• vesicular emphysema

abnormal tracheal cartilage morphology ( J:5629 )

• longer length of the fourth tracheal ring

muscle

abnormal tendon morphology ( J:5629 )

• tail and ankle tendons are sgnificantly smaller in size

• in older mice, some tendons show degenerative changes with increased cellularity and decreased amount of collagen

abnormal tendon sheath morphology ( J:5629 )

• in the tail, tendon size reduction is often associated with hyperplasia of the tendon sheath or with accumulation of fluid with the sheath

• ankle tendons show hyperplasia of the tendon sheath as well as hyperplasia of the loose connective tissue between the tendons

behavior/neurological

hunched posture ( J:5629 )

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

craniofacial

enlarged cranium ( J:5629 )

• longer skull

long mandible ( J:5629 )

• longer and wider mandible

growth/size/body

enlarged heart ( J:5629 )

cardiac hypertrophy ( J:32931 )

enlarged thoracic cavity ( J:5629 )

• enlarged thorax causing distension of the thoracic viscera

integument

abnormal hypodermis morphology ( J:5629 , J:6273 )

• 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)

thick hypodermis ( J:6273 )

• hypodermis is substantially thicker

abnormal skin morphology ( J:6273 )

abnormal dermal layer morphology ( J:6273 )

• 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

abnormal dermis papillary layer morphology ( J:6273 )

• fibrous organization of collagen fibrils is not distinctly visible in the hyalinized areas of the superficial dermis

thick dermal layer ( J:6273 )

• reticular dermis of skin is consistently thicker and often more cellular than that of wild-type

tight skin ( J:5629 , J:27521 , J:32931 )

• 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)

abnormal skin condition ( J:27521 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Marfan syndrome		DOID:14323	OMIM:154700	J:21512