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Table 1 Developmental anomalies identified by MRI in Pcsk5 zygotic and conditional knock-out embryos at E15.5

From: Pcsk5 is required in the early cranio-cardiac mesoderm for heart development

Phenotype

MP_term

Pcsk5 Δ1/Δ1

Pcsk5 Δ1/flox ; Sox2Cre+

Pcsk5 Δ1/flox ; MespI1Cre+

Pcsk5 Δ1/flox ; Nkx2.5Cre+

Pcsk5 Δ1/flox ; Hoxa3Cre+

Pcsk5 Δ1/flox ; Wnt1Cre+

n = 4 (1)

n = 5 (1)

n = 6 (3)

n = 6 (5)

n = 5 (2)

n = 8 (5)

reduced body size

MP:0001698

4

5

–

–

–

–

oedema

MP:0001785

4

5

4

–

–

–

cleft palate

MP:0000111

4

5

4

–

–

–

tracheo-esophageal fusion

MP:0003117

3

–

–

–

–

–

exomphalos

MP:0003052

4

5

–

–

–

–

abnormal rectum

MP:0000492

4

5

–

–

–

–

absent kidneys

MP:0000520

4

5

–

–

–

–

abnormal lungs

MP:0003641 MP:0001175

4

5

–

–

–

–

neural presacral mass

MP:0000955

4

4

–

–

–

–

absent tail

MP:0003456

4

5

–

–

–

–

hind limb dysplasia

MP:0000556

4

5

–

–

–

–

ASD

MP:0000282

4

4

1

–

–

–

VSD

MP:0000281

4

5

4

–

–

–

abnormal AVJ

MP:0006197

4

5

6

–

–

–

DORV

MP:0000284

–

2

3

–

–

–

TGA

MP:0006127

–

1

1

–

–

–

CAT

MP:0002633

4

1

–

–

–

–

R-AoA

MP:0004158

1

2

–

–

–

–

R-DA

MP:0000486

–

1

–

–

–

–

IAA

MP:0004157

–

1

–

–

–

–

  1. Developmental anomalies observed in Pcsk5 Δ1/Δ1 knock-out embryos and embryos with conditional deletion of Pcsk5 in cardiac lineages (Pcsk5 Δ1/flox Cre+). The number of embryos analysed for each group (n) is indicated, and the number of independent litters these embryos came from is indicated in parentheses. Mammalian Phenotype terms (MP_term) are shown for each anomaly observed. ASD atrial septal defect, VSD ventricular septal defect, AVJ atrio-ventricular junction, DORV double outlet right ventricle, TGA transposition of great arteries, CAT common arterial trunk, R-AoA right-sided aortic arch, R-DA right-sided ductus arteriosus, IAA interrupted aortic arch