TABLE 1.
Mouse genes involved in abnormal development of the cranial synchondroses.
| Gene | Protein | Induced mutation type | SOS/ISS | Age | Ossification | References |
| Tbx1 | T-box 1 | Deletion (Mesp1-Cre) | SOS | E15.5 | Partially increased | Funato et al., 2020 |
| Fgfrl1 | FGF receptor like 1 | Deletion | SOS | E18.5 | Increased | Catela et al., 2009 |
| Ihh | Indian hedgehog | Deletion (Col2a1-Cre) | SOS | E18.5 | Increased | Razzaque et al., 2005 |
| Mef2c | myocyte enhancer factor 2C | Activation | SOS | E18.5 | Increased | Arnold et al., 2007 |
| Pth1r | parathyroid hormone 1 receptor | Deletion | SOS | E18.5 | Increased | Lanske et al., 1996 |
| Six1; Six4 | sine oculis-related homeobox 1; sine oculis-related homeobox 4 | Deletion | SOS | E18.5 | Partially increased | He et al., 2010 |
| Chrd | chordin | Deletion | SOS | P1 | Partially increased | Bachiller et al., 2003 |
| Por | P450 oxidoreductase | Deletion (Dermo1-Cre) | SOS | P4 | Partially increased | Panda et al., 2013 |
| Nppc | natriuretic peptide type C | Deletion | SOS | P14 | Decreased | Nakao et al., 2013 |
| Twist1 | twist bHLH transcription factor 1 | Deletion (heterozygous) | SOS | P25-30 | Increased | Hermann et al., 2012 |
| Evc | EvC ciliary complex subunit 1 | Deletion | ISS | E18.5 | Increased | Pacheco et al., 2012 |
| Evc2 | EvC ciliary complex subunit 2 | Deletion | ISS | E18.5 | Increased | Caparrós-Martín et al., 2013 |
| Pkd2 | polycystin 2 | Deletion (Wnt1-Cre) | ISS | P14 | Increased | Khonsari et al., 2013 |
| Lef1 | lymphoid enhancer binding factor 1 | Activation | ISS, SOS | E17.5 | Increased | Nagayama et al., 2008 |
| Ctnnb1 | catenin beta 1 | Deletion (Col2a1-Cre) | ISS, SOS | E17.5 | Decreased | Nagayama et al., 2008 |
| Arl6/Bbs3 | ADP-ribosylation factor-like 6 | Deletion | ISS, SOS | E18.5 | Decreased | Kawasaki et al., 2017 |
| Pthlh/Pthrp | parathyroid hormone-like peptide | Deletion | ISS, SOS | P1 | Increased | Ishii-Suzuki et al., 1999 |
| Runx2 | runt-related transcription factor 2 | Activation | ISS, SOS | P1 | Increased | Takeda et al., 2001 |
| Six2 | sine oculis-related homeobox 2 | Deletion | ISS, SOS | P1 | Increased | He et al., 2010 |
| Fgfr2 | fibroblast growth factor receptor 2 | Activation | ISS, SOS | P1 (SOS) P28 (ISS) | Increased | Nagata et al., 2011 |
| Pkd1 | polycystin 1 | Deletion (Dermo1-Cre) | ISS, SOS | P5 | Partially increased | Kolpakova-Hart et al., 2008 |
| Kif3a | kinesin family member 3A | Deletion (Col2a1-Cre) | ISS, SOS | P7 | Partially increased | Koyama et al., 2007 |
| Hdac4 | histone deacetylase 4 | Deletion | ISS, SOS | P8 | Increased | Vega et al., 2004 |
| Map2k1 | mitogen-activated protein kinase kinase 1 | Activation | ISS, SOS | P11 | Increased | Matsushita et al., 2009 |
| Id2 | inhibitor of DNA binding 2 | Deletion | ISS, SOS | P14 | Growth defects | Sakata-Goto et al., 2012 |
| Ift88 | intraflagellar transport 88 | Deletion (Col2a1-Cre) | ISS, SOS | P14 | Partially increased | Ochiai et al., 2009 |
| Alpl | alkaline phosphatase, liver/bone/kidney | Deletion | ISS, SOS | P20 | Increased | Liu et al., 2014; Nam et al., 2017 |
| Ltbp3 | latent transforming growth factor beta binding protein 3 | Deletion | ISS, SOS | P21 | Increased | Dabovic et al., 2002 |
| Fgfr3 | fibroblast growth factor receptor 3 | Activation | ISS, SOS | P21 | Increased | Chen et al., 1999 |
| Pfas | Phosphoribosyl-formylglycinamidine synthase | Mutation (heterozygous) | n/a | P84 | Increased | Palmer et al., 2016 |
E, embryonic day; P, postnatal day; SOS, spheno-occipital synchondrosis; ISS, intersphenoid synchondrosis; n/a, not available.