A New Enpp1 allele, Enpp1ttw-Ham, Identified in an ICR Closed Colony

スポンサーリンク

概要

• 論文の詳細を見る

• We recently have reported on a novel ankylosis gene that is closely linked to the Enpp1 (ectonucleotide pyrophosphatase/phosphodiesterase 1) gene on chromosome 10. Here, we have discovered novel mutant mice in a Jcl:ICR closed colony with ankylosis in the toes of the forelimbs at about 3 weeks of age. The mutant mice exhibited rigidity in almost all joints, including the vertebral column, which increased with age. These mice also showed hypogrowth with age after 16 weeks due to a loss of visceral fat, which may have been caused by poor nutrition. Histological examination and soft X-ray imaging demonstrated the ectopic ossification of various joints in the mutant mice. In particular, increased calcium deposits were observed in the joints of the toes, the carpal bones and the vertebral column. We sequenced all exons and exon/intron boundaries of Enpp1 in the normal and mutant mice, and identified a G-to-T substitution (c.259+1G>T) in the 5′ splice donor site of intron 2 in the Enpp1 gene of the mutant mice. This substitution led to the skipping of exon 2 (73 bp), which generated a stop codon at position 354 bp (amino acid 62) of the cDNA (p.V63Xfs). Nucleotide pyrophosphohydrolase (NPPH) activity of ENPP1 in the mutant mice was also decreased, suggesting that Enpp1 gene function is disrupted in this novel mutant. The mutant mice reported in this study will be a valuable animal model for future studies of human osteochondral diseases and malnutrition.

• Japanese Association for Laboratory Animal Scienceの論文

Japanese Association for Laboratory Animal Science | 論文

• F344の亜系統, F344/DuとF344/Nの下顎骨の形態計測学的比較
• 高血圧高脂血症自然発症ラットにおける高フィブリノーゲン血症と高血圧および高脂血症合併モデルとしての有用性
• 大腸菌および緑膿菌由来エンドトキシンが心血行動態に及ぼす影響
• Pax6遺伝子をヘミ欠失したマウスの消化器系腫瘍
• サイクロオキシゲナーゼ-2(COX-2)とトランスフォーミング成長因子-β1(TGF-β1)に対する免疫反応性を示すリチャードソンジリス (Spermophilus richardsonii) の頬腺由来自然発生性腺癌の一例

もっと見る

スポンサーリンク