Dang Ruihua, Sasaki Nobuya, Torigoe Daisuke, Agui Takashi
Laboratory of Laboratory Animal Science and Medicine, Graduate School of Veterinary Medicine, Hokkaido University, Sapporo 060–0818, Japan.
J Vet Med Sci. 2012 Mar;74(3):391-4. doi: 10.1292/jvms.11-0447. Epub 2011 Nov 8.
The Japanese Fancy Mouse 1 (JF1) has a characteristic coat color similar to a very old mutant, piebald. The mutation in JF1 and the classic piebald was previously thought to be the same recessive allele in the endothelin B receptor gene (Ednrb) according to the haplotype pattern, which is insufficient for this conclusion. In this study, we identified the same insertion of a retroposon-like element in intron 1 of the Ednrb gene in JF1 as in the classic piebald mutation by PCR. Further, we investigated whether the intestine shows neuronal intestinal malformations such as hypoganglionosis and immaturity of ganglion cells by histochemical staining. Though it has been assumed that the defect of neural crest-derived lineages is restricted to melanocytes in JF1, we found that the enteric innervation and neuronal density were impaired throughout the whole colon in JF1 mice.
日本观赏鼠1（JF1）具有与一种非常古老的突变体——花斑鼠相似的特征性毛色。根据单倍型模式，JF1中的突变和经典花斑突变以前被认为是内皮素B受体基因（Ednrb）中的相同隐性等位基因，但这一结论并不充分。在本研究中，我们通过聚合酶链反应（PCR）确定，JF1中Ednrb基因内含子1中的反转录转座样元件插入与经典花斑突变相同。此外，我们通过组织化学染色研究肠道是否表现出神经节减少和神经节细胞不成熟等神经元性肠道畸形。尽管一直认为神经嵴衍生谱系的缺陷在JF1中仅限于黑素细胞，但我们发现JF1小鼠整个结肠的肠神经支配和神经元密度均受损。
