Phenotypes Associated with This Genotype

Genotype
MGI:5516430

• Allelic Composition: Gucy1a1^tm1.1Brou/Gucy1a1^tm1.1Brou
• Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

nervous system

decreased retina ganglion cell number ( J:199535 )

♀ • lower number of retinal ganglion cells in old, but not young, females

♀ • however, mutants exhibit normal cornea and anterior segment morphology

abnormal optic nerve morphology ( J:199535 )

♀ • the number of axons in the optic nerve are decreased compared to wild-type mice at 12 months of age

vision/eye

decreased retina ganglion cell number ( J:199535 )

♀ • lower number of retinal ganglion cells in old, but not young, females

♀ • however, mutants exhibit normal cornea and anterior segment morphology

abnormal optic nerve morphology ( J:199535 )

♀ • the number of axons in the optic nerve are decreased compared to wild-type mice at 12 months of age

abnormal aqueous humor ( J:199535 )

♀ • 57 week old mutants exhibit a lower aqueous humor clearance, indicating a decrease in aqueous humor outflow

abnormal retina nerve fiber layer morphology ( J:199535 )

♀ • the retinal nerve fiber layer is thinner in old, but not young, females, indicating a loss of nerve fibers

abnormal eye physiology ( J:199535 )

♀ • retinal arterial diameter decreases less in mutants than in wild-type mice following treatment with an NO-donor compound sodium nitroprusside, indicating that vascular reactivity in the retinal vasculature is abnormal

ocular hypertension ( J:199535 )

♀ • intraocular pressure increases as mutants age from 19 to 37 weeks of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
primary open angle glaucoma		DOID:1070	OMIM:137760	J:199535