Mouse Genome Informatics
tg1
    Tg(CMV-MYOC*Y437H)#Vcs/0
involves: C57BL/6J * SJL/J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
vision/eye
• mutants develop glaucoma phenotypes including elevated intraocular pressure, retinal ganglion cell death, and axonal degeneration resembling primary open angle gluacoma patients
• the chemical chaperone, phenylbutyric acid, which reduces ER stress rescues the glaucoma phenotype
• however, the iridocorneal angle is open and mutants do not exhibit abnormalities of the iris, ciliary body, or cornea
• progressive structural and functional loss of retinal ganglion cells, with a loss of 17.6% by 3-5 months of age and 30% by 12-14 months of age
• mutants lose 20.8% of optic nerve axons by 4-5 months of age and 36.1% by 12-14% months of age
• 12 month old mutants exhibit loss of trabecular meshwork cells
• mutants show rough endoplasmic reticulum distention in trabecular meshwork cells compared to wild-type
• mutants exhibit a 38.7% reduction in pattern electroretinography (PERG) amplitude at 3-5 months of age and 63.7% reduction at 12-16 months compared to wild-type mice
• starting at 3 months of age, mutants show an elevation of intraocular pressure (IOP)
• mutants exhibit highest IOP during the night (20.3 mmHg vs. 14.1 mmHg in wild-type)

nervous system
• progressive neuronal degeneration
• progressive structural and functional loss of retinal ganglion cells, with a loss of 17.6% by 3-5 months of age and 30% by 12-14 months of age
• mutants lose 20.8% of optic nerve axons by 4-5 months of age and 36.1% by 12-14% months of age
• mutants lose 20.8% of optic nerve axons by 4-5 months of age and 36.1% by 12-14% months of age

cellular
• mutants show rough endoplasmic reticulum distention in trabecular meshwork cells compared to wild-type
• mutants exhibit induction of endoplasmic reticulum stress

Mouse Models of Human Disease
OMIM IDRef(s)
Glaucoma, Primary Open Angle; POAG 137760 J:178254