Phenotype Image Detail

Image

Caption

FAM20C is essential to the differentiation of bone cells. (A,B) Scanning electron microscopy (SEM) analyses of tibia from 6-week-old Fam20c^tm1.1Cqi/Fam20c^tm1.1Cqi Edil3^{Tg(Sox2-cre)1Amc}/0 (cKO) mice (upper) and wild-type (WT) littermates (lower). The osteocytes of the mutant mice showed abnormal shape (green arrows), wider periosteocytic region (red asterisk), and loss of osteocyte processes (red arrowheads), appearing immature and poorly differentiated. (C,D) Backscatter SEM analyses of the alveolar bone showed that the osteocytes in the 6-week-old mutant mice (upper) had periosteocytic lesions (the "halo" defects, i.e., wider unmineralized regions surrounding the osteocytes), appearing as larger lacunae (arrows) compared with their WT littermates (lower). The black areas represent the unmineralized areas (osteocytes, periosteocytic region, osteocyte processes), while the grey/white areas represent the matrix that is well mineralized. (E-J) ISH staining of Col1a1, osteocalcin (OCN), and DMP1 on the sagittal sections of tibia from 3-week-old mutant mice (upper panels) and WT littermates (lower panels), revealed significant downregulation of these terminal differentiation markers in the mutant mice. The pink/red color represents the positive ISH staining. (K) IHC staining of FGF23 in the tibia from 3-week-old mutant mice and their WT littermates revealed more FGF23 protein in the long bone of the mutant (left) than in the WT (right) mice. The brown color represents the positive IHC staining. (L) Higher magnification of the box areas in K showed more FGF23 protein in the osteocytes (arrowheads) and the bone matrices (arrows) of the mutant mice (upper) than in the WT (lower). Scale bars: 5 um in A and B, 10 um in C and D, 50 um in L, 200 um in E-K.

Copyright

This image is from Wang X, PLoS Genet 2012 May;8(5):e1002708, and is displayed under the terms of the Creative Commons Attribution 4.0 International License. J:185208

Associated Alleles

Symbol	Name
Edil3^Tg(Sox2-cre)1Amc	EGF-like repeats and discoidin I-like domains 3; transgene insertion 1, Andrew P McMahon
Fam20c^tm1.1Cqi	FAM20C, golgi associated secretory pathway kinase; targeted mutation 1.1, Chunlin Qin

Associated Genotypes

Allelic Composition	Genetic Background
Fam20c^tm1.1Cqi/Fam20c^tm1.1Cqi Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129S6/SvEvTac * C57BL/6 * CBA