No | Gene symbol | Gene name | Reference | PMID | Note | Cleft type |
---|---|---|---|---|---|---|
1 | Bmp4 | bone morphogenic protein 4 | [9] | 15716346 | Nestin-Cre;Bmp4F/n cKO mice show unilateral CL. | CLO |
2 | Bmpr1a | bone morphogenic protein receptor, type 1A | [9] | 15716346 | Nestin-Cre;Bmpr1a cKO mice show bilateral CL and CP. | CLP |
3 | Cdc42 | cell division cycle 42 | [10] | 24056078 | Wnt1-Cre;Cdc42 cKO mice show either unilateral or bilateral CL at 10% and CP at 100%. | CLP or CPO |
4 | Clpex | cleft lip and palate, exencephaly | [11] | 21515572 | Homozygous mutant mice show several types of facial clefting (midfacial cleft and bilateral CL) and CP | midfacial cleft and CLP |
5 | Cplane1 | ciliogenesis and planar polarity effector 1 | [12] | 25877302 | Homozygous mutant mice show CL and CP. | CLP |
6 | Cplane 2 (aka Rsg1) | ciliogenesis and planar polarity effector 2 | [13] | 25807483 | Homozygous mutants show CL. Mutation is ENU-induced single point mutation. | CLO |
7 | Ctnnb1 | catenin, beta1 | [14] | 22354888 | Pitx1-Cre;Ctnnb1dex3/dex3 cKO (gain of function) and Pitx1-Cre;Ctnnb1dex2–6/dex2–6 cKO (loss of function) mice show CL and CP. | CLP |
8 | Dzip1l | DAZ interacting protein 1-like | [15] | 28530676 | Homozygous null mutant mice show bilateral CL and CP. | CLP |
9 | Ednrb | endothelin receptor type B | 8722795; 17693063 | Homozygous null mutant mice show CL at 27% and CP at 83%. | CLP or CPO | |
10 | Ermp1 | endoplasmic reticulum metallopeptidase 1 | [13] | 25807483 | Homozygous mutant mice show CL and CP. Mutation is ENU-induced single point mutation. | CLP |
11 | Esrp1 | epithelial splicing regulatory protein 1 | [18] | 26371508 | Homozygous null mutant mice show CL and CP at 100%. | CLP |
12 | Ext1 | exostoses 1 | [19] | 19509472 | Wnt1-Cre;Ext1 cKO mice show CL and CP. | CLP |
13 | Folr1 (aka Folbp1) | folate receptor 1 (adult) | [20] | 12854656 | Homozygous null mutant mice show bilateral CL at 43%, unilateral CL at 32%, and CP at 51%. Some embryos show failure of the mandibular process, resulting in mandibular cleft. | CLP or CLO |
14 | Gldc | glycine decarboxylase | [13] | 25807483 | Homozygous mutant mice show midfacial cleft or CL and CP. Mutation is ENU-induced single point mutation. | midfacial cleft or CLP |
15 | Kif7 | kinesin family member 7 | [13] | 25807483 | Homozygous mutant mice show CL or CP. Mutation is ENU-induced single point mutation. | CLO, CLP, or CPO |
16 | Lgl | legless | 3406741; 2313245 | LglTg/Tg (deletion transgenic) mice show midfacial cleft or CL and CP at 40%. | CLP or midfacial cleft and CP | |
17 | Lrp6 | low density lipoprotein receptor-related protein 6 | 19700620; 19653321 | Homozygous null mutant mice show either bilateral or unilateral CL and CP at 100%. | CLP | |
18 | Mirc1 (aka miR-17-92) | microRNA cluster 1 | [24] | 24068957 | Homozygous null mutant mice show bilateral CL/P at 32.4% and unilateral CL/P at 17.7%. 44% of mutant mice show mandibular cleft. | CLP |
19 | Mks1 | Meckel syndrome, type 1 | 21045211; 23454480 | Homozygous null mutant mice show CL and/or CP. | CLO, CLP, or CPO | |
20 | Myh10 | myosin, heavy polypeptide 10, non-muscle | [13] | 25807483 | Homozygous mutant mice show CL. Mutation is ENU-induced single point mutation. | CLO |
21 | Nosip | nitric oxide synthase interacting protein | [27] | 25546391 | Nosip null mice exhibit unilateral CL and CP (48.6%; as a mild phenotype) and midfacial cleft with CP (28.6%; as a severe phenotype). | CLP, midfacial cleft and CP |
22 | Pbx1 | pre B cell leukemia homeobox 1 | [28] | 29797482 | Foxg1-Cre;Pbx1 cKO mice show CPO at 33%, either unilateral or bilateral CL and CP at 62%, and unilateral CLO at 5%. | CLO, CLP, or CPO |
23 | Ph | patch deletion region | [29] | Rasberry and Cattanach, 1994 Mouse Genome, 92 (3):504–505 | Homozygous mutant mice show facial cleft or CL. | midfacial cleft, CLO, or CLP |
24 | Porcn | porcupine O-acyltransferase | [30] | 25451153 | Wnt1-Cre;PorcnF/Y cKO mice show CL at 100% and CP. Rx3-Cre;PorcnF/Y cKO mice show bilateral CL and CP. Wnt1-Cre;Rx3-Cre;PorcnF/Y cKO mice show CL and CP at 100%. | CLO or CLP |
25 | Ptch1 | patched 1 | [31] | 23900075 | Wnt1-Cre;Ptch1 cKO mice show CL or midfacial cleft at E12.5. Embryos die by E12.5. | CL or midfacial cleft |
26 | Ptpn11 | protein tyrosine phosphatase, non-receptor type 11 | [32] | 19706403 | Wnt1-Cre;Ptpn11Tg/+ (gain of function) mice show CL and CP at 21%. | CLP |
27 | Rpgrip1l | Rpgrip1-like | 17553904; 17558409; 21677750 | Homozygous null mutant mice show CL. | CLO | |
28 | Satb2 | special AT-rich sequence binding protein 2 | 16960803; 16751105 | Homozygous null mutant mice show CL and CP. | CLP | |
29 | Sox11 | SRY-box 11 | 15254231; 26826126 | Homozygous null mutant mice and EIIa-Cre;Sox11 cKO mice show either unilateral or bilateral CL at 70% and either anterior or complete CP at 100%. | CLP or CPO | |
30 | Sp8 | trans-acting transcription factor 8 | [40] | 23872235 | FoxG1-Cre;Sp8 cKO mice (5 out of 13) exhibit CLO. | CLO |
31 | Tbc1d32 | TBC1 domain family, member 32 | [13] | 25807483 | Homozygous mutant mice show CL and CP. Mutation is ENU-induced single point mutation. | CLO or CLP |
32 | Tbx1 | T-box 1 | [41] | 19557177 | Ap2aIRESCre/+;COET conditional Tbx1 overexpression mice exhibit bilateral CL. No information about CP. The phenotype was rescued by overexpression of Smad1 (Ap2aIRESCre/+;COET;Fsmad1). | CLO or CLP |
33 | Tfap2a | transcription factor AP-2, alpha | [42] | 25381013 | Tfap2anull/neo mice show bilateral CL and CP at 100%. | CLP |
34 | Tgfbr1 (aka Alk5) | transforming growth factor, beta receptor I | [43] | 18586087 | Nestin-Cre;Tgfbr1 cKO mice show either unilateral or bilateral CL at 64%. No information about CP. | CLO or CLP |
35 | Tmem107 | transmembrane protein 107 | 22698544; 28954202 | Homozygous mutant mice show CL and CP at 14%. | CLP | |
36 | Trp53 | transformation related protein 53 | [46] | 25119037 | CMV-Cre;Trp53LSL-25.26.53.54/+ mice show CL and CP. | CLP |
37 | Trp63 | transformation related protein 63 | [47] | 18634775 | Homozygous null mutant mice show bilateral CL and CP at 100%. | CLP |
38 | Wdr19 (aka Ift144) | WD repeat domain 19 | [48] | 22228095 | Homozygous mutant mice show bilateral CL and CP. Mutation is ENU-induced single point mutation. | CLP |
39 | Wnt9b | wingless-type MMTV integration site family, member 9B | [49] | 21982646 | Foxg1-Cre/+;Wnt9b cKO mice show bilateral CL at 59% and CP. | CLO or CLP |