Analysis Tools
growth/size/body
|
• weight deficit (~10%) for first few months of life
|
reproductive system
embryo
|
• prechondrogenic patterns of cellular condensations of digits delayed
|
limbs/digits/tail
|
• sesamold bones are either absent, reduced, or partially fused to the phalangeal bone
• the large bone (d4) of the carpus is split into two carpal bones
|
|
• digits III and IV are stiffer than wild-type
|
|
• reduction and deformation of phalangeal bones
|
|
• the second phalanges are either reduced in digits III and IV, or absent in digits II and V
|
brachydactyly
(
J:15507
)
|
• reduction in size of forelimb digits, especially digits II and IV, and the hindlimb digits, especially digits I, II, and V
|
polydactyly
(
J:15507
)
|
• about 50% have an additional rudimentary digit posteriorly
|
syndactyly
(
J:15507
)
|
• the sesamold bones are sometimes partially fused to the phalangeal bone
• fusion of bones is observed at articulations
• the metacarpal and first phalange of digit II are often fused in a single bone rod
|
|
• reduction and deformation of metacarpal bones
|
|
• metatarsal I is largely deformed with an anterior protrusion
|
|
• shorter and thicker metatarsal bones
|
skeleton
|
• sesamold bones are either absent, reduced, or partially fused to the phalangeal bone
• the large bone (d4) of the carpus is split into two carpal bones
|
|
• reduction and deformation of phalangeal bones
|
|
• the second phalanges are either reduced in digits III and IV, or absent in digits II and V
|
|
• reduction and deformation of metacarpal bones
|
|
• metatarsal I is largely deformed with an anterior protrusion
|
|
• shorter and thicker metatarsal bones
|
|
• sacral vertebra 4 (S4) fused to sacral vertebra 3 (S3)
|
|
• delayed ossification of extremities
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| synpolydactyly | DOID:0060242 |
OMIM:186000 OMIM:608180 OMIM:610234 |
J:15507 | |
