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Fig. 2. Limb skeletal phenotypes of
Pbx1–/–;Pbx2+/–
(mutant) embryos. (A-D) At E12.5, Sox9 expression
indicates that mutant forelimb (B) mesenchymal condensations for digits 1
(empty red arrowhead) and 5 (empty black arrowhead) are rudimentary compared
with wild type (A). In mutant hindlimbs (D), digit (red empty arrowhead) and
fibula condensations (empty black arrowhead) are absent compared with wild
type (C) (black arrow). (E-H) At E12.5, unlike wild type (E) (red
arrow), mutant scapular (F) anlagen is reduced (red arrowhead) and the humerus
is dysmorphic with a hypertrophic anlagen reminiscent of a deltoid tuberosity
(F) (black arrowheads). In mutant (H), the pelvis is virtually absent, except
for one element (empty black arrowhead) that may be a rudimentary ischium (G)
(compare with wild type, long black arrow). (I-N) At E13.5, unlike wild
type (I, red arrow), mutant scapula (K; inset) is dysmorphic (red arrowhead)
and the humeral head is fused to it and duplicated medially (double black
arrowhead), more severely than in
Pbx1–/–;Pbx2+/+ mutants (J)
(arrowheads). In mutant hindlimbs (N), only a rudimentary anlagen reminiscent
of an ischium (open black arrowhead) remains fused to the dysmorphic femur
(red arrow). This phenotype is more severe than in
Pbx1–/–;Pbx2+/+ mutants (M)
(arrowheads). The mutant forelimb (K) zeugopod (ra and ul) appears shortened
(short black arrows), while the mutant hindlimb (N) zeugopod (ti and fi) lacks
the fibula (open red arrowhead) when compared with wild type (I and L,
respectively) (L, red arrow). The double mutant forelimb (K) autopod exhibits
three central digits, with digits 1 (open red arrowhead) and 5 (open black
arrowhead) absent or rudimentary. The mutant hindlimb (N) autopod lacks all
digits (dashed red rectangle) except one rudimentary ray (open black
arrowhead; inset) compared with wild type (L). fe, femur; fi, fibula; hu,
humerus; pg, pelvic girdle; ra, radius; sc, scapula; ti, tibia; ul, ulna.
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