Skip to main content

Table 1 Single gene mutant mice with cleft lip

From: MicroRNA-124-3p suppresses mouse lip mesenchymal cell proliferation through the regulation of genes associated with cleft lip in the mouse

NoGene symbolGene nameReferencePMIDNoteCleft type
1Bmp4bone morphogenic protein 4[9]15716346Nestin-Cre;Bmp4F/n cKO mice show unilateral CL.CLO
2Bmpr1abone morphogenic protein receptor, type 1A[9]15716346Nestin-Cre;Bmpr1a cKO mice show bilateral CL and CP.CLP
3Cdc42cell division cycle 42[10]24056078Wnt1-Cre;Cdc42 cKO mice show either unilateral or bilateral CL at 10% and CP at 100%.CLP or CPO
4Clpexcleft lip and palate, exencephaly[11]21515572Homozygous mutant mice show several types of facial clefting (midfacial cleft and bilateral CL) and CPmidfacial cleft and CLP
5Cplane1ciliogenesis and planar polarity effector 1[12]25877302Homozygous mutant mice show CL and CP.CLP
6Cplane 2 (aka Rsg1)ciliogenesis and planar polarity effector 2[13]25807483Homozygous mutants show CL. Mutation is ENU-induced single point mutation.CLO
7Ctnnb1catenin, beta1[14]22354888Pitx1-Cre;Ctnnb1dex3/dex3 cKO (gain of function) and Pitx1-Cre;Ctnnb1dex2–6/dex2–6 cKO (loss of function) mice show CL and CP.CLP
8Dzip1lDAZ interacting protein 1-like[15]28530676Homozygous null mutant mice show bilateral CL and CP.CLP
9Ednrbendothelin receptor type B[16, 17]8722795; 17693063Homozygous null mutant mice show CL at 27% and CP at 83%.CLP or CPO
10Ermp1endoplasmic reticulum metallopeptidase 1[13]25807483Homozygous mutant mice show CL and CP. Mutation is ENU-induced single point mutation.CLP
11Esrp1epithelial splicing regulatory protein 1[18]26371508Homozygous null mutant mice show CL and CP at 100%.CLP
12Ext1exostoses 1[19]19509472Wnt1-Cre;Ext1 cKO mice show CL and CP.CLP
13Folr1 (aka Folbp1)folate receptor 1 (adult)[20]12854656Homozygous 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
14Gldcglycine decarboxylase[13]25807483Homozygous mutant mice show midfacial cleft or CL and CP. Mutation is ENU-induced single point mutation.midfacial cleft or CLP
15Kif7kinesin family member 7[13]25807483Homozygous mutant mice show CL or CP. Mutation is ENU-induced single point mutation.CLO, CLP, or CPO
16Lgllegless[21, 22]3406741; 2313245LglTg/Tg (deletion transgenic) mice show midfacial cleft or CL and CP at 40%.CLP or midfacial cleft and CP
17Lrp6low density lipoprotein receptor-related protein 6[3, 23]19700620; 19653321Homozygous null mutant mice show either bilateral or unilateral CL and CP at 100%.CLP
18Mirc1 (aka miR-17-92)microRNA cluster 1[24]24068957Homozygous 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
19Mks1Meckel syndrome, type 1[25, 26]21045211; 23454480Homozygous null mutant mice show CL and/or CP.CLO, CLP, or CPO
20Myh10myosin, heavy polypeptide 10, non-muscle[13]25807483Homozygous mutant mice show CL. Mutation is ENU-induced single point mutation.CLO
21Nosipnitric oxide synthase interacting protein[27]25546391Nosip 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
22Pbx1pre B cell leukemia homeobox 1[28]29797482Foxg1-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
23Phpatch deletion region[29]Rasberry and Cattanach, 1994 Mouse Genome, 92 (3):504–505Homozygous mutant mice show facial cleft or CL.midfacial cleft, CLO, or CLP
24Porcnporcupine O-acyltransferase[30]25451153Wnt1-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
25Ptch1patched 1[31]23900075Wnt1-Cre;Ptch1 cKO mice show CL or midfacial cleft at E12.5. Embryos die by E12.5.CL or midfacial cleft
26Ptpn11protein tyrosine phosphatase, non-receptor type 11[32]19706403Wnt1-Cre;Ptpn11Tg/+ (gain of function) mice show CL and CP at 21%.CLP
27Rpgrip1lRpgrip1-like[33,34,35]17553904; 17558409; 21677750Homozygous null mutant mice show CL.CLO
28Satb2special AT-rich sequence binding protein 2[36, 37]16960803; 16751105Homozygous null mutant mice show CL and CP.CLP
29Sox11SRY-box 11[38, 39]15254231; 26826126Homozygous 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
30Sp8trans-acting transcription factor 8[40]23872235FoxG1-Cre;Sp8 cKO mice (5 out of 13) exhibit CLO.CLO
31Tbc1d32TBC1 domain family, member 32[13]25807483Homozygous mutant mice show CL and CP. Mutation is ENU-induced single point mutation.CLO or CLP
32Tbx1T-box 1[41]19557177Ap2aIRESCre/+;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
33Tfap2atranscription factor AP-2, alpha[42]25381013Tfap2anull/neo mice show bilateral CL and CP at 100%.CLP
34Tgfbr1 (aka Alk5)transforming growth factor, beta receptor I[43]18586087Nestin-Cre;Tgfbr1 cKO mice show either unilateral or bilateral CL at 64%. No information about CP.CLO or CLP
35Tmem107transmembrane protein 107[44, 45]22698544; 28954202Homozygous mutant mice show CL and CP at 14%.CLP
36Trp53transformation related protein 53[46]25119037CMV-Cre;Trp53LSL-25.26.53.54/+ mice show CL and CP.CLP
37Trp63transformation related protein 63[47]18634775Homozygous null mutant mice show bilateral CL and CP at 100%.CLP
38Wdr19 (aka Ift144)WD repeat domain 19[48]22228095Homozygous mutant mice show bilateral CL and CP. Mutation is ENU-induced single point mutation.CLP
39Wnt9bwingless-type MMTV integration site family, member 9B[49]21982646Foxg1-Cre/+;Wnt9b cKO mice show bilateral CL at 59% and CP.CLO or CLP
  1. CLO, cleft lip only; CLP, cleft lip and cleft palate; CPO, cleft palate only