A mouse model for neural tube defects: the curtailed (Tc) mutation produces spina bifida occulta in Tc/+ animals and spina bifida with meningomyelocele in Tc/t.
A mouse model for neural tube defects: the curtailed (Tc) mutation produces spina bifida occulta in Tc/+ animals and spina bifida with meningomyelocele in Tc/t.
复制标题
神经管缺陷小鼠模型：缩减（Tc）突变在 Tc/ 动物中产生隐性脊柱裂，在 Tc/t 动物中产生伴有脑膜脊髓膨出的脊柱裂。
DOI：
10.1002/tera.1420390312
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发表时间：
1989
期刊：
影响因子：
--
通讯作者：
Bennett,D
中科院分区：
文献类型：
--
作者：
Park,CH;Pruitt,JH;Bennett,D
截尾突变（Tc）是小鼠17号染色体上的显性突变，导致杂合子出现无尾表型和偶尔的后肢瘫痪。在组织学上，Tc/ +胚胎显示出各种异常，包括发育中的脊髓的出芽和腹侧重复，脊索的重复和间歇性缺失，以及骨椎骨的部分或完全缺失，所有这些都在中肝水平之后。当Tcis与含有“尾部相互作用因子“tct的t-单倍型杂合时，表型更严重，腰骶区存在背侧血疱。显微镜下观察发现Tc/tw 5小鼠存在腰骶部脊柱裂并脊髓脊膜膨出。这是由于缺少骨性椎骨、背部真皮广泛变薄以及先前闭合的神经管破裂，可能是由于坏死、变薄的顶板上的脑脊液（CSF）压力增加。在Tc/ +中没有观察到顶板变薄，这有利于脊髓的破裂，这表明这种现象与Tc与t-等位基因的相互作用有关。在Tc/tw 5胚胎发育的后期，邻近的血管破裂，导致出血进入CSF空间，外观为血疱。Tc/ +小鼠腰骶部也显示背侧无骨性椎骨，但缺乏背侧血疱，骨缺损上的真皮层保持正常厚度;这些观察结果描述了隐性脊柱裂。
Curtailed(Tc), a dominant mutation on mouse chromosome 17, causes a tailless phenotype and occasional hindlimb paralysis in heterozygotes. Histologically,Tc/ + embryos show a variety of abnormalities including budding and ventral duplication of the developing spinal cord, duplication and intermittent absence of the notochord, and partial or complete absence of bony vertebrae, all posterior to midliver level. WhenTcis heterozygous witht‐haplotypes that contain the “tail interaction factor,”tct, the phenotype is more severe, and a dorsal blood blister exists in the lumbosacral area. Our microscopic observations reveal thatTc/tw5mice have a lumbosacral spina bifida with meningomyelocele. This results from the absence of bony vertebrae, extensive thinning of the dermis dorsally, and the rupturing of the previously closed neural tube, probably by increased cerebrospinal fluid (CSF) pressure on the necrotic, attenuated roof plate. Thinning of the roof plate, which facilitates the rupturing of the spinal cord, is not observed inTc/ +, which suggests that this phenomenon is associated with the interaction ofTcwith thet‐allele. Later in the development ofTc/tw5embryos, adjacent blood vessels are ruptured, resulting in hemorrhage into the CSF space to give the external appearance of a blood blister.Tc/ + mice also show an absence of bony vertebrae dorsally in the lumbosacral region, but they lack the dorsal blood blister, and the dermal layer overlying the bony defect retains its normal thickness; these observations describe a spina bifida occulta.