All Phenotypes Fstl1<tm1.2Mvdh> MGI Mouse

perinatal lethality, complete penetrance ( J:176532 )

• normal Mendelian ratios of homozygotes are observed at E18.5, but no living pups are found at P0

abnormal lung lobe morphology ( J:176532 )

• late embryonic lungs have abnormal, bubble-shaped lobes instead of the pyramidal shape in controls

abnormal pulmonary alveolus morphology ( J:176532 )

• distal alveolar airspaces have tight, focal structure

primary atelectasis ( J:176532 )

• no lung inflation is detected in any homozygous animals after birth

abnormal bronchiole morphology ( J:176532 )

• proximal bronchioles are irregular and enlarged in mutant lungs

abnormal tracheal cartilage morphology ( J:176532 )

• some tracheal rings are poorly spaced whereas others are hypoplastic in E18.5 animals

respiratory distress ( J:176532 )

• animals begin gasping immediately after birth and die within minutes

fused phalanges ( J:176532 )

• digits are fused at the site of the proximal phalanxes

bowed fibula ( J:176532 )

• fibula is curved

absent patella ( J:176532 )

• observed in all mutants

abnormal metacarpal bone morphology ( J:176532 )

• delayed ossification of the metacarpals is observed

camptomelia ( J:176532 )

• bending (campomelia) of the radius, ulna, humerus, femur and fibula is observed at E18.5

• campomelia is present by E13.5

absent sesamoid bone of gastrocnemius ( J:176532 )

• fabella is absent in all mutants

abnormal tracheal cartilage morphology ( J:176532 )

• some tracheal rings are poorly spaced whereas others are hypoplastic in E18.5 animals

asymmetric sternocostal joints ( J:176532 )

• rib-sternum mispairing is observed (asymmetric attachment of ribs to sternum and shifted ossification centers)

abnormal costal cartilage morphology ( J:176532 )

• cartilaginous processes are present at the ventral part of the first five ribs

abnormal rib morphology ( J:176532 )

abnormal spine curvature ( J:176532 )

• abnormal curvature is apparent by E14.5, most prominent in the cervical region

lordokyphosis ( J:176532 )

• spines of E18.5 embryos show increased cervical lordosis and lumbar kyphosis

abnormal cervical atlas morphology ( J:176532 )

• atlas (C1) shows ventro-caudal displacement (anterior arch is in front of cervical spine)

abnormal cervical axis morphology ( J:176532 )

• skull is displaced ventro-caudally and positioned in front of the neck

decreased bone ossification ( J:176532 )

• reduced ossification of vertebral bodies of the spine is detected

abnormal digit morphology ( J:176532 )

• alignment of digits is distorted and irregular

fused phalanges ( J:176532 )

• digits are fused at the site of the proximal phalanxes

abnormal hindlimb stylopod morphology ( J:176532 )

• hip displacement is observed in some animals

abnormal hindlimb zeugopod morphology ( J:176532 )

• fibula point of attachment to tibia is displaced from lateral to medial