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A New Enpp1 allele, Enpp1(ttw-Ham), Identified in an ICR Closed Colony
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 ag...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Japanese Association for Laboratory Animal Science
2014
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4160980/ https://www.ncbi.nlm.nih.gov/pubmed/24770645 http://dx.doi.org/10.1538/expanim.63.193 |
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author | Takabayashi, Shuji Seto, Shintaro Katoh, Hideki |
author_facet | Takabayashi, Shuji Seto, Shintaro Katoh, Hideki |
author_sort | Takabayashi, Shuji |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-4160980 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2014 |
publisher | Japanese Association for Laboratory Animal Science |
record_format | MEDLINE/PubMed |
spelling | pubmed-41609802014-10-21 A New Enpp1 allele, Enpp1(ttw-Ham), Identified in an ICR Closed Colony Takabayashi, Shuji Seto, Shintaro Katoh, Hideki Exp Anim Original 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 2014-04-26 2014 /pmc/articles/PMC4160980/ /pubmed/24770645 http://dx.doi.org/10.1538/expanim.63.193 Text en ©2014 Japanese Association for Laboratory Animal Science http://creativecommons.org/licenses/by-nc-nd/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial No Derivatives (by-nc-nd) License. |
spellingShingle | Original Takabayashi, Shuji Seto, Shintaro Katoh, Hideki A New Enpp1 allele, Enpp1(ttw-Ham), Identified in an ICR Closed Colony |
title | A New Enpp1 allele,
Enpp1(ttw-Ham), Identified in
an ICR Closed Colony |
title_full | A New Enpp1 allele,
Enpp1(ttw-Ham), Identified in
an ICR Closed Colony |
title_fullStr | A New Enpp1 allele,
Enpp1(ttw-Ham), Identified in
an ICR Closed Colony |
title_full_unstemmed | A New Enpp1 allele,
Enpp1(ttw-Ham), Identified in
an ICR Closed Colony |
title_short | A New Enpp1 allele,
Enpp1(ttw-Ham), Identified in
an ICR Closed Colony |
title_sort | new enpp1 allele,
enpp1(ttw-ham), identified in
an icr closed colony |
topic | Original |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4160980/ https://www.ncbi.nlm.nih.gov/pubmed/24770645 http://dx.doi.org/10.1538/expanim.63.193 |
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