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小鼠中的遗传性隐性脊柱裂

Genetic spina bifida occulta in the mouse.

作者信息

Hollander W F

出版信息

Am J Anat. 1976 Jun;146(2):173-9. doi: 10.1002/aja.1001460205.

DOI:10.1002/aja.1001460205
PMID:782223
Abstract

Spina bifida occulta is one of the major effects of the recessive mutant "snubnose" (symbol sno). Linkage tests have located this mutant in chromosome 4. Defective spinal arch formation typically includes the lumbar and often the posterior thoracic and sacral vertebrae. There is great variation in detail, from nearly normal closure to a trough-like spinal column. Causes of the variation are not understood. Severely affected specimens may also have defective anterior thoracic vertebrae and reduced size of the sacral vertebrae, with kyphosis. The tail is essentially normal. No external lesion or myelomeningocele has been found, but there have been some instances of paralysis of the hind limbs, possibly from injury. The spinal cord seems normal as a rule, and pigmentation is normal. Embryological study has not been attempted, but the condition seems to be primarily osteogenic in origin.

摘要

隐性突变体“短鼻”(符号为sno)的主要影响之一是隐性脊柱裂。连锁试验已将该突变体定位在4号染色体上。典型的脊柱弓形成缺陷包括腰椎,通常还包括胸后段和骶椎。在细节上有很大差异,从几乎正常的闭合到槽状脊柱。变异的原因尚不清楚。严重受影响的标本可能还存在胸前段椎体缺陷和骶椎尺寸减小,并伴有脊柱后凸。尾巴基本正常。未发现外部病变或脊髓脊膜膨出,但有一些后肢麻痹的病例,可能是受伤所致。脊髓通常看起来正常,色素沉着也正常。尚未尝试进行胚胎学研究,但这种情况似乎主要起源于成骨。

相似文献

1
Genetic spina bifida occulta in the mouse.小鼠中的遗传性隐性脊柱裂
Am J Anat. 1976 Jun;146(2):173-9. doi: 10.1002/aja.1001460205.
2
Spina bifida cystica. Incidence of spina bifida occulta in parents and in controls.囊性脊柱裂。父母及对照组中隐性脊柱裂的发病率。
Arch Dis Child. 1967 Apr;42(222):171-3. doi: 10.1136/adc.42.222.171.
3
[Apropos of the role of heredity in the etiology of spina bifida occulta].[关于隐性脊柱裂病因中遗传因素的作用]
Zh Nevropatol Psikhiatr Im S S Korsakova. 1965;65(8):1169-73.
4
[Immunogenetic studies of spina bifida--sibling cases in three families].[脊柱裂的免疫遗传学研究——三个家庭中的同胞病例]
No To Hattatsu. 1993 Sep;25(5):417-22.
5
[Contribution to sagittal spina bifida].[矢状脊柱裂的研究贡献]
Zentralbl Chir. 1968 Apr 13;93(15):531-41.
6
Over-expression of Grhl2 causes spina bifida in the Axial defects mutant mouse.Grhl2 过表达导致 Axial 缺陷突变鼠的脊柱裂。
Hum Mol Genet. 2011 Apr 15;20(8):1536-46. doi: 10.1093/hmg/ddr031. Epub 2011 Jan 24.
7
Interaction between undulated and Patch leads to an extreme form of spina bifida in double-mutant mice.
Nat Genet. 1995 Sep;11(1):60-3. doi: 10.1038/ng0995-60.
8
Spina bifida occulta in homozygous Patch mouse embryos.纯合型Patch小鼠胚胎中的隐性脊柱裂。
Dev Dyn. 1997 May;209(1):105-16. doi: 10.1002/(SICI)1097-0177(199705)209:1<105::AID-AJA10>3.0.CO;2-0.
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Valproic acid-induced spina bifida: a mouse model.丙戊酸诱导的脊柱裂:小鼠模型
Teratology. 1992 Feb;45(2):145-54. doi: 10.1002/tera.1420450208.
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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.一种神经管缺陷的小鼠模型:截短(Tc)突变在Tc/+动物中产生隐性脊柱裂,在Tc/t动物中产生伴有脊髓脊膜膨出的脊柱裂。
Teratology. 1989 Mar;39(3):303-12. doi: 10.1002/tera.1420390312.

引用本文的文献

1
Mapping of the mouse actin capping protein beta subunit gene.小鼠肌动蛋白封端蛋白β亚基基因的定位
BMC Genomics. 2000;1:1. doi: 10.1186/1471-2164-1-1. Epub 2000 Jul 27.
2
Mouse chromosome 4.
Mamm Genome. 1991;1 Spec No:S51-78. doi: 10.1007/BF00656486.
3
Mouse chromosome 4.小鼠4号染色体。
Mamm Genome. 1992;3 Spec No:S55-64. doi: 10.1007/BF00648422.