ptk7は運動性繊毛のマスター調整遺伝子として知られ、ptk7遺伝子欠損マウスは髄膜瘤のため胎児期に死亡する.そこで本研究ではすでに樹立され、他の論文でも使用されていて実績のあるptk7 floxマウスを用いて遺伝子特異的欠損マウスを作成する.次にマウスを2足歩行として、側弯の発生の有無を解析する. 2足歩行モデルは申請者らが以前に行った両前脚の切断による２足歩行モデルを用いる.
Ptk7を欠失させる時期に関してはptkflox/floxマウスが幼児期を超えた後に2種類のCreマウス（Foxj1tm1.1(cre/ERT2/GFP)Htg/J及びCAG-cre/Esr1）を用いて欠失させる.
1. Foxj1-cre (tamoxifen inducible cre+EGFP)
幼児期を超えた後にタモキシフェンを投与し繊毛運動のマスター遺伝子FoxJ1の発現部位に特異的に（中枢神経周囲）ptk-7を欠失させる. EGFPの発光で遺伝子の欠失を確認する.
2. C57B6.Cg-Tg (CAG-cre/Esr1*)5Amc/J
幼児期を超えた後にCAG全身性にptk-7を欠失させる. Wnt/PCPシグナルの幼児期以降の他の器官への影響も解析可能（軟骨など）.
我々は現在上記２種のマウスを習得し交配を行なっている。2019年５月には最終的な組織特異的ptk7遺伝子欠損マウスが樹立される見込みである。
ptk7 is known as a master regulatory gene of motile cilia and mice deficient in ptk7 gene die in fetal stage due to meningoalgia. Since it was established already in this study, ptk7 flox which has already been used in other papers Mice are used to prepare gene-specific deficient mice, then mice are biped to analyze the occurrence of scoliosis. The bipedal walking model is based on the cutting of both forelimbs performed by applicants previously Use the biped walking model.
Regarding the timing of deletion of Ptk7, deletion was performed using two types of Cre mice (Foxj1 tm1.1 (cre / ERT2 / GFP) Htg / J and CAG-cre / Esr1) after the ptkflox / flox mouse exceeded the infancy period.
1. Foxj1-cre (tamoxifen inducible cre + EGFP)
Tamoxifen is administered after the infancy period and ptk-7 is deleted specifically (around the central nervous system) at the expression site of the master gene FoxJ1 of cilia movement by confirming the deletion of the gene by light emission of EGFP.
2. C57B6.Cg-Tg (CAG-cre / Esr1 *) 5 Amc / J
We delete ptk-7 systemically after infancy. Wnt / PCP signal can also be analyzed on other organs since infancy (such as cartilage).
We currently mated the above two types of mice and are breeding. In May 2019, the final tissue - specific ptk7 gene deficient mouse is expected to be established.