KIDNEY AND RETINAL DEFECTS (KRD), A TRANSGENE-INDUCED MUTATION WITH A DELETION OF MOUSE CHROMOSOME-19 THAT INCLUDES THE PAX2 LOCUS
KIDNEY AND RETINAL DEFECTS (KRD), A TRANSGENE-INDUCED MUTATION WITH A DELETION OF MOUSE CHROMOSOME-19 THAT INCLUDES THE PAX2 LOCUS
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DOI：
10.1006/geno.1994.1506
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发表时间：
1994-09-15
期刊：
影响因子：
4.4
通讯作者：
MEISLER, MH
中科院分区：
文献类型：
--
作者：
KELLER, SA;JONES, JM;MEISLER, MH
在转基因品系Tg 8052中鉴定了半显性突变Krd（肾和视网膜缺陷）。Kid/+小鼠具有高的肾缺陷发生率，包括再生障碍性肾、发育不良肾和囊性肾。Krd/+小鼠的视网膜缺陷包括异常的视网膜电图和在内细胞和神经节层中最极端的细胞数量减少。Krd/+小鼠的生存力受到遗传背景的强烈影响，在幼龄动物中观察到生长迟缓。纯合性导致早期胚胎死亡。转基因特异性探针的荧光原位杂交将插入位点定位于小鼠19号染色体的远端区域。插入位点的序列显示转基因插入到LINE元件中，在转基因的3'末端边缘缺失单个核苷酸。一个多态性的微卫星，D19 Umi 1，被确定在一个连接克隆和映射在几个大的十字架。D19 Umi 1位于Pax 2远端1.7 +/- 1.0 cM处，Pax 2编码在胚胎肾和眼中表达的成对型转录因子。通过对（Krd/+ x SPRET/Ei）F-1小鼠的基因组DNA进行Southern分析，证明Pax 2从转基因染色体上缺失。其他遗传和分子数据与约7 cM缺失一致，包括位点硬脂酰CoA去饱和酶（Scd 1）、苍白耳（ep）、D19 Mit 17、D19 Mit 24、D19 Mit 27、D19 Mit 11和Pax 2。这种缺失，Del（19）TgN 8052 Mm，将是有用的遗传和功能的研究，该区域的小鼠19号染色体。(C)1994年学术出版社
The semidominant mutation Krd (kidney and retinal defects) was identified in transgenic line Tg8052. Kid/+ mice have a high incidence of kidney defects including aplastic, hypoplastic, and cystic kidneys. Retinal defects in Krd/+ mice include abnormal electroretinograms and a reduction of cell numbers that is most extreme in the inner cell and ganglion layers. Viability of Krd/+ mice is strongly influenced by genetic background, and growth retardation is observed in young animals. Homozygosity results in early embryonic lethality. Fluorescence in situ hybridization of a transgene-specific probe localized the insertion site to the distal region of mouse Chromosome 19. The sequence of the insertion site revealed transgene insertion into a LINE element with deletion of a single nucleotide hem the 3' terminus of the transgene. A polymorphic microsatellite, D19Umi1, was identified in a junction clone and mapped in several large crosses. D19Umi1 is located 1.7 +/- 1.0 cM distal to Pax2, which encodes a paired type transcription factor expressed in embryonic kidney and eye. Deletion of Pax2 from the transgenic chromosome was demonstrated by Southern analysis of genomic DNA from (Krd/+ x SPRET/Ei)F-1 mice. Additional genetic and molecular data are consistent with an approximately 7-cM deletion that includes the loci stearoyl CoA desaturase (Scd1), pale ear (ep), D19Mit17, D19Mit24, D19Mit27, D19Mit11, and Pax2. This deletion, Del(19)TgN8052Mm, will be useful for genetic and functional studies of this region of mouse Chromosome 19. (C) 1994 Academic Press, Inc