TIPP |
tiptoe walking Yoshimura |
Hansemann macrophages |
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genetic symbol: ttw. An older designation is twy [tiptoe walking Yoshimura]. tiptoe walking is a naturally occurring mouse mutant (Hosoda et al, 1981) that exhibits ossification of the spinal ligaments very similar to OPLL (ossification of the posterior longitudinal ligament of the spine), a common cause of myelopathy due to compression of the spinal cord by ectopic ossification of spinal ligaments (Tsuyama, 1984). Ossification occurs also in the joint capsules, tendon enthesis, chondral tissues, and peripheral ligaments (Okawa et al, 1998). The trait is inherited as an autosomal recessive with almost complete penetrance.
The ttw phenotype is caused by a nonsense mutation in the ENPP1 [ectonucleotide pyrophosphatase/phosphodiesterase 1] (Okawa et al, 1998).
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