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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

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

[16, 17]

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

[21, 22]

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

[3, 23]

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

[25, 26]

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

[33,34,35]

17553904; 17558409; 21677750

Homozygous null mutant mice show CL.

CLO

28

Satb2

special AT-rich sequence binding protein 2

[36, 37]

16960803; 16751105

Homozygous null mutant mice show CL and CP.

CLP

29

Sox11

SRY-box 11

[38, 39]

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

[44, 45]

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

  1. CLO, cleft lip only; CLP, cleft lip and cleft palate; CPO, cleft palate only