Genetics and morphology of a recessive mutation in the house mouse affecting head and limb skeleton

Abstract

Several years ago me observed in our mouse colony some newborn mice with peculiar abnormalities of head and extremities. The first abnormals appeared in a tailless strain (tailless line 11) and were the offspring of a tailless male and two of his tailless sisters. Two of the abnormals were tailless and one was a normal-tailed individual. Thc most striking deformities of these newborns were the extreme shortening of the extremities and the reduction in liead size. The abnormality mas termed ' ' phocomclia" because of the seal-like appearance of the young, althougli tlic actual morphology of the abnormal extremities would be described more accurately as micromelia. Breeding experiments, to be described below, soon showed that this abnormality was inherited as a simple reccssivc Mendelian character, and further study of the abnormal morphology revealed many abnormalities in addition to those of the extremities, combined in a syndrome incompatible with viabilit,y. Not a single abnormal young ever survived the first 24 hours after birth.

The membranous skeleton: the role of cell condensations in vertebrate skeletogenesis

“…Onset of condensation formation is delayed by 24 h, but condensations are of normal size when they appear (Gluecksohn-Waelsch et al 1956). As discussed for congenital hydrocephalus, such a delay in condensation initiation, even if condensations are of normal size when formed, can disturb skeletal morphogenesis.…”

Morphogenetic Studies of the Rabbit. Xxiii. The Effects of the Dachs Gene Da (Chondrodystrophy) Upon Linear and Lateral Growth of the Skeleton as Influenced in Time

“…The same seems to be the case with the human disproportionate dwarf (KNOTZKE 1929) and with "phocomelia" of the mouse (GLUECKSOHN-WAELSCH et al 1956).…”

Understanding chondrodysplasia (cho): A comprehensive review of cho as an animal model of birth defects, disorders, and molecular mechanisms

“…Further investigation led to the uncovering of the recessive mutation cho that was later mapped to the Col11a1 gene for type XI collagen. The new mutation, designated chondrodysplasia, was tested for allelism and was shown to differ from the phenotypically similar mutants phocomelia (Gluecksohn‐Waelsch, Hagedorn, & Sisken, ), achondroplasia (Lane & Dickie, ), and shorthead (Fitch, ). Thus, a new animal model for disproportionate dwarfism, or skeletal dysplasia, was now available to study.…”