Fig. 3: Abnormal skull shape and reduced snout length in homozygous (G682R) KI embryos. | European Journal of Human Genetics

Fig. 3: Abnormal skull shape and reduced snout length in homozygous (G682R) KI embryos.

From: Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide

Fig. 3

Phenotyping of Col27a1 wild-type (WT), heterozygous Col27a1G682R/+, and homozygous Col27a1G682R/G682R KI embryos at E18.5 with microcomputed tomography imaging. Skull shape in the homozygous mutant mice is rounder with a significantly shorter snout as compared with wild-type and heterozygous KI embryos. Abnormal skull shape and snout length were quantified as the ratio between head length (L1) over head height (L2), difference between the distribution of head ratios was evaluated between wild-type and heterozygous KI embryos which appear normal and homozygous KI embryos.

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