SD-Mice - An Animal Model for Complex Anorectal Malformations*

Abstract

Animal models for morphological investigations of anorectal malformations are barely known to pediatric surgeons. In this study the morphological characteristics of a spontaneous mutation of the house mouse, the so-called SD-mouse, are described. The semidominant gene SD exerts its influence on the anorectum, the urogenital system and the axial skeleton. Many heterozygous (SD/+) and all homozygous (SD/SD) animals die shortly after birth due to their malformations. Surviving heterozygotes, identified by their short and deformed tails, may be used for breeding purposes. According to Mendel's laws, mating of such heterozygous yields 75% more or less malformed animals which may be used for morphological investigations. The morphological features of these animals were investigated in 61 neonatal SD-mice (33 SD/SD, 28 SD/+) and in 10 normal controls by microdissection and in 49 animals (25 SD/SD, 20 SD/+ and four normal controls) by serial sections. Of these, all homozygous and 10 heterozygous SD mice had anorectal malformations. The spectrum of these malformations is wide: very complex malformations in SD/SD mice and high anorectal malformations in SD/+ mice. These are comparable to morphological features found in humans and piglets. Hence the SD mouse represents an animal model for morphologic and embryonic investigations of complex anorectal malformations.