skeleton
• abnormal and shortened limb skeletal elements are visible by E13.5
|
• absent middle phalange on digit V
|
• severely shortened middle phalanges on digits II - IV
|
• decrease in the number of proliferating cells in the developing cartilage anlagen of the long bones at E15.5
|
• expression analysis indicates a delay in endochondral bone ossification at E14.5
|
limbs/digits/tail
• absent middle phalange on digit V
|
• severely shortened middle phalanges on digits II - IV
|
• marked decrease in the length of the most distal cartilage element before the last joint formation
• decrease in the recruitment of surrounding proliferating mesenchymal cells into the most distal cartilage element
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
brachydactyly type A1 | DOID:0110964 |
OMIM:112500 |
J:147878 |