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Table 1 Cardiovascular defects in Pax9 and Pax9;Msx1 mutant E15.5 embryos and neonates

From: Msx1 haploinsufficiency modifies the Pax9-deficient cardiovascular phenotype

Genetic background—genotype

n

VSD

DORV + IVC

cAo

IAA ± A-RSA

A-RSA (w/o IAA)

Absent CC

B6-Pax9–/– a

24

3/19 (16%)

15/19 (79%)

0

22/24 (92%)

2/24 (8%)

17/24 (71%)

CD1-Pax9–/– b

47

10/37 (27%)

6/37 (16%) ***

2/47 (4%)

41/47 (87%)

6/47 (13%)

27/47 (57%)

CD1-Pax9–/–;Msx1+/– c

38

2/29 (7%)

1/29 (3%)

9/38 (24%)*

11/38 (29%)***

19/38 (50%)***

9/38 (24%)*

CD1-Pax9–/–;Msx1–/– d

7

0

1/7 (14%)

0

2/7 (29%)

0

0

  1. Ao, aorta; A-RSA, aberrant right subclavian artery; DORV + IVC, double outlet right ventricle with interventricular communication; IAA, interrupted aortic arch; VSD, perimembranous ventricular septal defect
  2. ***p < 0.001; *p < 0.05 (Fisher’s exact test for associations)
  3. aData for Pax9–/– mice on a C57Bl/6J (B6) genetic background have been published [3]. Aortic arch artery defects for neonates (n = 5) and E14.5–15.5 embryos (n = 19) are pooled. VSD and DORV + IVC data from embryos only. A-RSA refers to a retro-oesophageal, cervical origin or isolated right subclavian artery. Absent common carotid artery (CC), resulting in the internal and external carotid arteries arising directly from the main aortic vessels, either unilaterally or bilaterally. All embryos had cleft palate and an absent thymus, and all embryos except Pax9–/–;Msx1–/– had a pre-axial digit duplication
  4. bFor CD1-Pax9–/– mice, aortic arch artery defects for neonates (n = 22) and E15.5 embryos (n = 25) are pooled. VSD and DORV + IVC data are from all embryos and n = 12 neonates (by histology)
  5. cFor CD1-Pax9–/–;Msx1+/– mice, aortic arch artery defects for neonates (n = 20) and E15.5 embryos (n = 18) are pooled. VSD and DORV + IVC data from all embryos and n = 11 neonates (by histology)
  6. dCD1-Pax9–/–;Msx1–/– data for neonates (n = 1) and E15.5 embryos (n = 6) are pooled. All control B6-Pax9+/+ (n = 16) and CD1-Pax9+/+ (n = 9) embryos and neonates were normal. CD1-Pax9+/+;Msx1–/– (n = 7) and CD1-Pax9+/–;Msx1–/– (n = 14) embryos and neonates had normal heart, great arteries and thymus, but all had a cleft palate