| First Author | Kiyozumi D | Year | 2020 |
| Journal | Exp Anim | Volume | 69 |
| Issue | 1 | Pages | 104-109 |
| PubMed ID | 31554749 | Mgi Jnum | J:291067 |
| Mgi Id | MGI:6436012 | Doi | 10.1538/expanim.19-0088 |
| Citation | Kiyozumi D, et al. (2020) Genetic mutation of Frem3 does not causeFraser syndrome in mice. Exp Anim 69(1):104-109 |
| abstractText | QBRICK, FRAS1, and FREM2 compose a family of extracellular matrix proteins characterized by twelve consecutive CSPG repeats and single or multiple Calx-beta motifs. Dysfunction of these proteins have been associated with Fraser syndrome, which is characterized by malformation of skin, eyes, digits, and kidneys. FREM3 is another member of the 12-CSPG protein family. However, it remains unknown whether genetic dysfunction of FREM3 also causes Fraser syndrome or another developmental disorder. Here we investigated a Frem3 mutant mouse line generated by CRISPR/Cas9-mediated genome editing. The FREM3 mutant homozygotes were born at the expected Mendelian ratio and did not possess any defects characteristic of Fraser syndrome. These results indicate that the dysfunction of FREM3 is not associated with Fraser syndrome. |
