| First Author | Chang B | Year | 2024 |
| Journal | MGI Direct Data Submission | Mgi Jnum | J:359196 |
| Mgi Id | MGI:7786409 | Citation | Chang B (2024) The early-onset glaucoma 2 (egl2) model. MGI Direct Data Submission |
| abstractText | The early-onset glaucoma 2 mutation, egl2, was discovered in B6;129-Syne2<cpfl8-2J>/Boc (JAX Stock No. 034138) in 2018 as part of our ocular phenotypes screening program. We mated mutant mice to DBA/2J for the linkage cross and the F1 mice had a normal retina, proving it was a recessive mutation. The egl2 mutation was mapped to mouse Chr. 3 between D3Mit12 and D3Mit78, the best candidate in the region should be myosin binding protein H-like (Mybphl). We made a congenic strain by tracking the retinal phenotype of egl2 through backcross-intercross to C57BL/6J for 5 cycles of backcrossing. Then sibling intercrossed to make a homozygous congenic strain B6.Cg-egl2/Boc (JAX Stock No. 036986). The egl2 mutation was discovered by image guided optical coherence tomography (OCT) in mice exhibiting retinal optic cupping (Figure 1) as early as 3 weeks of age. The lesions were confirmed by histology (Figure 1). ERG tests showed a progressive loss of rod ERG and cone ERG responses compared to wild type control (Figure 2). This congenic homozygous strain has an increased incidence of hydrocephalus, with approximately 5-10% displaying this phenotype, but no significant incidence of cleft palate, which has been reported in Mybphl null homozygotes. |
