Using BXD mouse strains in vision research: A systems genetics approach

Mol Vis. 2020 Mar 6;26:173-187. eCollection 2020.


We illustrate the growing power of the BXD family of mice (recombinant inbred strains from a cross of C57BL/6J and DBA/2J mice) and companion bioinformatic tools to study complex genome-phenome relations related to glaucoma. Over the past 16 years, our group has integrated powerful murine resources and web-accessible tools to identify networks modulating visual system traits-from photoreceptors to the visual cortex. Recent studies focused on retinal ganglion cells and glaucoma risk factors, including intraocular pressure (IOP), central corneal thickness (CCT), and susceptibility of cellular stress. The BXD family was exploited to define key gene variants and then establish linkage to glaucoma in human cohorts. The power of this experimental approach to precision medicine is highlighted by recent studies that defined cadherin 11 (Cdh11) and a calcium channel (Cacna2d1) as genes modulating IOP, Pou6f2 as a genetic link between CCT and retinal ganglion cell (RGC) death, and Aldh7a1 as a gene that modulates the susceptibility of RGCs to death after elevated IOP. The role of three of these gene variants in glaucoma is discussed, along with the pathways activated in the disease process.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Review

MeSH terms

  • Aldehyde Dehydrogenase / genetics
  • Aldehyde Dehydrogenase / metabolism
  • Animals
  • Cadherins / genetics
  • Cadherins / metabolism
  • Calcium Channels / genetics
  • Calcium Channels / metabolism*
  • Cell Death / genetics
  • Cornea / growth & development
  • Cornea / metabolism*
  • Cornea / pathology
  • Disease Models, Animal
  • Glaucoma / genetics
  • Glaucoma / metabolism*
  • Humans
  • Intraocular Pressure / genetics*
  • Intraocular Pressure / physiology
  • Mice
  • Mice, Inbred C57BL
  • Mice, Inbred DBA
  • POU Domain Factors / genetics
  • POU Domain Factors / metabolism
  • Retina / metabolism*
  • Retinal Ganglion Cells / metabolism*


  • Cadherins
  • Calcium Channels
  • POU Domain Factors
  • Pou6f2 protein, mouse
  • osteoblast cadherin
  • Aldehyde Dehydrogenase
  • Aldh7a1 protein, mouse