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Fig. 4. Non-complementation between the rs mutation and a null allele of
Lrp6. The Lrp6-null allele is designated as null.
(A) Compound heterozygotes (rs/null), obtained from mating between
rs/+ and null/+ at the newborn stage, exhibit a rudimentary
tail (red arrowheads) and spina bifida aperta (yellow arrowheads) (4-6). (1-3)
are either of +/+, rs/+, or null/+. (B-I) E14 fetuses of
rs/rs (C,G), rs/null (D,H), or null/null (E,I)
genotypes exhibit a clear gradient in the severity of the dysmorphology
phenotypes, both externally (B-E) and internally (F-I). Note the presence of a
variety of morphological defects in null/null (E), including
micropthalmia (mo), micrognathia (mg), oligodactyly (od), hypomelia (hm),
gastroschisis (gs), spina bifida aperta (sba) and axial truncation (at). In
the skeletal samples (F-I), note the difference in the levels of axial
truncation (arrowheads).
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