Uncovering modifier genes of X-linked Alport syndrome using a novel multiparent mouse model

Y Takemon, V Wright, B Davenport… - Journal of the …, 2021 - journals.lww.com
Background Mutations in COL4A5 are responsible for 80% of cases of X-linked Alport
Syndrome (XLAS). Although genes that cause AS are well characterized, people with AS
who have similar genetic mutations present with a wide variation in the extent of kidney
impairment and age of onset, suggesting the activities of modifier genes. Methods We
created a cohort of genetically diverse XLAS male and female mice using the Diversity
Outbred mouse resource and measured albuminuria, GFR, and gene expression. Using a …