growth/size/body
renal/urinary system
• in 5 of 60 mutants
|
skeleton
• ectopic branch of the iliofemoral ligament
• the iliofemoral ligament has two femoral connections in the mutants
• the second ectopic branch attaches to and is part of the anterior femoral ridge
|
• the ischiofemoral ligament is visibly weaker than in the wild-type mice, and attaches more dorsally to the medial side of the femoral rim
|
• the articular hyaline cartilage of the femoral head is thinner than normal, and does not have well-organized maturation layers in adult
• no clear separation of bone and cartilage
• no epiphyseal line is found
• the posterior muscle attachment region cannot be found
|
• by 4 to 6 weeks postnatally, a bony ridge develops along the anterior longitudinal line of the shaft of the femur
• third trochanter on the proximal side continuing as medial and lateral suprecondylar ridges distally by the knee
• the differences in the shapes of the femoral ridges of the mutants from prominent (94.6%) to moderate (5.4%)
• femoral ridges are found in all the mutants six weeks and older
|
short femur
(
J:161095
)
• delayed fusion between the pubic and ischial bones at 8+ weeks of age
• 67.6% of the mice show posterior complete dyssymphysis of ischium and pubis
• 27% of the mice show a prominent seam or indentation on the posterior edge of the pelvis vs. 16.7% in wild-type
• normally formed cartilaginous bridge between the ischium and pubis
|
• the acetabulum is seen at the level of the fourth and fifth sacral vertebrae in most mutants vs the boundary between the third and fourth
• the overall position of the acetabulum does not change
|
• 33 of 34 examined show the reduction or complete loss of the thirteenth rib
|
short ribs
(
J:161095
)
• 33 of 34 examined show the reduction or complete loss of the thirteenth rib
|
• anterior transformation of the first caudal vertebra into a sacral identity
• the fourth sacral vertebra exhibits an intermediate shape between a normal S3 and S4
• usually five sacral-like vertebrae, three fused and two free
• no overall loss of precaudal vertebrae
|
• 33 of 34 mutant mice show a partial to complete transformation of the thirteenth thoracic vertebrae (T13) into a lumbar identity (L1), typified by the reduction or complete loss of the thirteenth rib
• posterior transformation of the most caudal thoracic vertebra into a lumbar identity
• T12(T13/L1)L5S5 pattern in 94% of mutant mice
• T13L5S5 pattern in 2.9% of mutant mice
|
• the most caudal lumbar vertebra often undergoes a similar transformation into a sacral (S1) identity
• T13L5(L6/S1)S4 pattern in 2.9% of mutant mice
• 20% of the wild-type mice show some mild variation in the shape of the L1, L6, or S1 segments
|
• the articular hyaline cartilage of the femoral head is thinner than normal adult
• no well-organized maturation layers
• no epiphyseal line is found
|
• delayed calcification process
|
muscle
• substantially shorter hindlimb muscles on the medial side of the thigh compared to wild-type
|
• total muscle mass is about 70% of normal by weight of dissected muscles by 14 weeks of age
|
• muscle wasting becomes apparent in older mice
|
behavior/neurological
• the average rpm at fall was 27.19.1 for mutant animals and 35.511.8 for wild-type animals in rotarod testing
• no overt differences in locomotor behavior or motility
• normal gaits
• normal open field behaviors
|
nervous system
• decreased lumbar motor neurons in the medial motor column, and in the medial and lateral components of the lateral motor column
• the distribution of these neurons appeared relatively unchanged
• no gross defects in the formation, appearance, and projection of spinal nerves
• normal motor and sensory projections into the developing hindlimb bud at E13.5
|
limbs/digits/tail
• the acetabulum is seen at the level of the fourth and fifth sacral vertebrae in most mutants vs the boundary between the third and fourth
• the overall position of the acetabulum does not change
|
• ectopic branch of the iliofemoral ligament
• the iliofemoral ligament has two femoral connections in the mutants
• the second ectopic branch attaches to and is part of the anterior femoral ridge
|
• the ischiofemoral ligament is visibly weaker than in the wild-type mice, and attaches more dorsally to the medial side of the femoral rim
|
• the articular hyaline cartilage of the femoral head is thinner than normal, and does not have well-organized maturation layers in adult
• no clear separation of bone and cartilage
• no epiphyseal line is found
• the posterior muscle attachment region cannot be found
|
• by 4 to 6 weeks postnatally, a bony ridge develops along the anterior longitudinal line of the shaft of the femur
• third trochanter on the proximal side continuing as medial and lateral suprecondylar ridges distally by the knee
• the differences in the shapes of the femoral ridges of the mutants from prominent (94.6%) to moderate (5.4%)
• femoral ridges are found in all the mutants six weeks and older
|
short femur
(
J:161095
)
• anterior transformation of the first caudal vertebra into a sacral identity
• the fourth sacral vertebra exhibits an intermediate shape between a normal S3 and S4
• usually five sacral-like vertebrae, three fused and two free
• no overall loss of precaudal vertebrae
|