Phenotypes Associated with This Genotype

Genotype
MGI:4417921

• Allelic Composition: Slc1a3^tm1Kta/Slc1a3^tm1Kta
• Genetic Background: B6.129P2-Slc1a3^tm1Kta

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

vision/eye

vision/eye phenotype ( J:124191 )

N • despite retinal ganglion cell loss and glaucomatous-like changes, mice exhibit normal intraocular pressure

abnormal optic nerve morphology ( J:124191 )

• at 8 months, the optic nerve is thinner than in wild-type mice

optic nerve cupping ( J:124191 )

• at 8 months

optic nerve degeneration ( J:124191 )

• mice exhibit optic nerve degeneration with reduction of optic nerve area, degeneration of axons, and reduced axon density compared to in wild-type mice

abnormal retina ganglion layer morphology ( J:124191 )

• fewer cells are found in the retinal ganglion layer and consist of displaced amacrine cells compared to in wild-type mice

decreased retina ganglion cell number ( J:124191 )

• after 2 weeks, mice exhibit loss of retinal ganglion cells (RGCs) associated with oxidative stress unlike wild-type mice

• retinal ganglion cell loss is increased when retinal ganglion cells are mixed with Muller cells treated with hydrogen peroxide unlike cells mixed with similarly treated wild-type Muller cells

• however, treatment with menantine prevents RGC loss

abnormal retina inner nuclear layer morphology ( J:124191 )

• fewer cells are found in the retinal inner nuclear layer compared to in wild-type mice

retina degeneration ( J:124191 )

• after 8 weeks, mice exhibit loss of retinal ganglion cells (RGCs) unlike wild-type mice

abnormal electroretinogram waveform feature ( J:124191 )

• mice exhibit impaired multifocal electroretinogram compared with wild-type mice

cellular

increased cellular sensitivity to hydrogen peroxide ( J:124191 )

• retinal ganglion cell loss is increased when retinal ganglion cells are mixed with Muller cells treated with hydrogen peroxide unlike cells mixed with similarly treated wild-type Muller cells

homeostasis/metabolism

increased lactate dehydrogenase level ( J:124191 )

• in retinal ganglion cells cultured with hydrogen peroxide treated Muller cells

nervous system

decreased retina ganglion cell number ( J:124191 )

• after 2 weeks, mice exhibit loss of retinal ganglion cells (RGCs) associated with oxidative stress unlike wild-type mice

• retinal ganglion cell loss is increased when retinal ganglion cells are mixed with Muller cells treated with hydrogen peroxide unlike cells mixed with similarly treated wild-type Muller cells

• however, treatment with menantine prevents RGC loss

abnormal optic nerve morphology ( J:124191 )

• at 8 months, the optic nerve is thinner than in wild-type mice

optic nerve cupping ( J:124191 )

• at 8 months

optic nerve degeneration ( J:124191 )

• mice exhibit optic nerve degeneration with reduction of optic nerve area, degeneration of axons, and reduced axon density compared to in wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
low tension glaucoma		DOID:13544		J:124191