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Table 3 Compound 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

Bbs7 & Ift88

Bardet-Biedl syndrome 7 & intraflagellar transport 88

[62]

22228099

Bbs7−/−;Ift88orpk double mutant mice exhibit CL at E12.5. No information about cleft palate at later stages. The single mutant mice do not show CL nor CP. Ift88orpk is a hypomorphic allele.

CLO or CLP

2

Fgf8 & Tfap2

fibroblast growth factor 8 & transcription factor AP-2, alpha

[42]

25381013

Tfap2null/neo;Fgf8+/− mice show bilateral CL and CP in 10/18 and unilateral CL/P in 8/10. This compound mutant mouse is a rescue model of Tfap2anull/neo mice.

CLP

3

Gdf1 & Nodal

growth differentiation factor 1 & nodal

[63]

16564040

Gdf1−/−;Nodal+/− mutant mice show CL at 68% at E13.5.

CLO

4

Hhat & Ptch1

hedgehog acyltransferase & patched 1

[64]

24590292

HhatTg(Tfap2a-Cre)/+;Ptch1+/− double heterozygous mice show CL and primary palate cleft at E12.5.

CLP

5

Lrp6 & Rspo2

low density lipoprotein receptor-related protein 6 & R-spondin 2

[65]

21237142

Lrp6+/−;Rspo2−/− mutant mice show CL and CP in 1/6 or CPO in 5/6.

CLP or CPO

6

Mirc1 & Mirc3 (aka miR-17-92 & miR-106b-25)

microRNA cluster 1 & microRNA cluster 3

[24]

24068957

Mirc1null/null;Mirc3null/nul mutant mice show bilateral CL and CP in 100%, and mandibular cleft at 100%. Mirc1null/null;Mirc3null/+ mutant mice show bilateral CL/P in 67.5% and unilateral CL/P at 12.5%, and mandibular cleft at 57.5%.

CLP

7

Msx1 & Pax9

msh homeobox1 & paired box 9

[66]

20123092

Msx1−/−;Pax9−/− double KO mice show either unilateral or bilateral CL at 39%, CP and midfacial hypoplasia at 100%.

CLP or CPO

8

Pbx1 & Pbx2

pre B cell leukemia homeobox 1 & pre B cell leukemia homeobox 2

[49]

21982646

Foxg1-Cre;Pbx1F/F;Pbx2−/− double cKO mice show bilateral CL. Foxg1-Cre;Pbx1F/F;Pbx2+/− mice show bilateral CL and CP. Tcfap2a-Cre;Pbx1F/F;Pbx2+/− mice show CL and/or CP. Pbx1−/−;Pbx2+/− mutant mice show CL and CP.

CLO, CLP, or CPO

9

Pbx1 & Wnt9b

pre B cell leukemia homeobox 1 & wingless-type MMTV integration site family, member 9B

[49]

21982646

Foxg1-Cre;Pbx1+/−;Wnt9bF/F mice show bilateral CL at 100% and CP.

CLO or CLP

10

Pbx1 & Pbx3

pre B cell leukemia homeobox 1 & pre B cell leukemia homeobox 3

[49]

21982646

Pbx1−/−;Pbx3+/− mutant mice show either unilateral or bilateral CL and/or CP. Tcfap2a-Cre;Pbx1F/F;Pbx3+/− mutants show CL and/or CP. Foxg1-Cre;Pbx1F/F;Pbx3+/− mutants show CL and/or CP.

CLO, CLP, or CPO

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