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Systematic phenotyping of the neomorphic Fgf9Y162C mutant mouse

ABSTRACT: The novel neomorphic Fgf9Y162C mouse mutant was recently reported to cause small lenses and later on cataracts. Since Fgf9 is expressed also in other tissues and organs, we performed a systematic and comprehensive phenotyping of the heterozygous and homozygous mutants in the German Mouse Clinic. We did not observe any effect on dysmorphological parameters, on bone & cartilage, and no neurological effects (including pain). However, we observed an improved glucose tolerance in both sexes, but reduced lactate levels in homozygous males, and increased corticosterone levels in female mutants. Analysis of the blood count revealed more white blood cells, a higher frequency of T-cells in homozygous male mutants and an increased concentration of IgE in female mutants indicating that the immune system including the allergy state is affected at least in one sex. The Fgf9Y162C mutants showed also a significantly smaller total lung capacity, which might be due of non-significant changes in inspiratory capacity and functional residual capacity. Finally, we observed a decreased locomotion of the mutants combined with a decreased ability for social discrimination. These different phenotypes are interpreted as pleiotropic consequences of the mutation in those tissues where Fgf9 is expressed. In addition, transcriptome profiling of lenses from 18 week old homozygote mice revealed changes on molecular level associated with phototransduction and ophthalmic diseases.

ORGANISM(S): Mus musculus

PROVIDER: GSE61683 | GEO | 2024/12/01

REPOSITORIES: GEO

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