Phenotypes associated with this allele

• Allele Symbol: Prss56^glcr4
• Allele Name: glaucoma relevant mutation 4
• Allele ID: MGI:5444189
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Prss56^glcr4/Prss56^glcr4	C3A.Cg-Prss56^glcr4 Pde6b^+	MGI:5444192
hm2	Prss56^glcr4/Prss56^glcr4	C57BL/6J-Prss56^glcr4	MGI:5444191
hm3	Prss56^glcr4/Prss56^glcr4	involves: C3H/HeA * C57BL/6J * C57BL/LiA	MGI:5444190

Genotype
MGI:5444192

hm1

• Allelic Composition: Prss56^glcr4/Prss56^glcr4
• Genetic Background: C3A.Cg-Prss56^glcr4 Pde6b⁺

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

vision/eye

posterior microphthalmia ( J:188765 )

• Background Sensitivity: reduction in axial length is more severe in mice on an inbred C3H/HeA background than in mice on a C57BL/6 background

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
isolated microphthalmia 6		DOID:0060835	OMIM:613517	J:188765

Genotype
MGI:5444191

hm2

• Allelic Composition: Prss56^glcr4/Prss56^glcr4
• Genetic Background: C57BL/6J-Prss56^glcr4

vision/eye

abnormal iridocorneal angle ( J:188765 )

• the angle is narrow and the iris is closely apposed to the trabecular meshwork

hypoplastic trabecular meshwork ( J:188765 )

• focally hypoplastic with substantially reduced collagen fibrils in the trabecular beams and an increase in open spaces lacking extracellular matrix

enlarged eye anterior chamber ( J:188765 )

• in some mice at 3 months of age

abnormal eye size ( J:188765 )

• variable decrease (ranging from 0-10% shorter than in controls) in axial length at 2 months of age

posterior microphthalmia ( J:188765 )

• in severely affected mice

• Background Sensitivity: reduction in axial length is more severe in mice on an inbred C3H/HeA background than in mice on a C57BL/6 background

abnormal sclera morphology ( J:188765 )

• focal regions with abnormal crowding of collagen fibrils

abnormal optic choroid morphology ( J:188765 )

• expanded and thicker by as early as 2 months of age

ocular hypertension ( J:188765 )

• pupil dilation induces a large increase in intraocular pressure

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
isolated microphthalmia 6		DOID:0060835	OMIM:613517	J:188765

Genotype
MGI:5444190

hm3

• Allelic Composition: Prss56^glcr4/Prss56^glcr4
• Genetic Background: involves: C3H/HeA * C57BL/6J * C57BL/LiA

vision/eye

retina ganglion cell degeneration ( J:188765 )

• develop glaucomatous neurodegeneration characterized by retinal ganglion cell death following the increase in intraocular pressure

optic nerve atrophy ( J:188765 )

• develop glaucomatous neurodegeneration characterized by optic nerve atrophy following the increase in intraocular pressure

abnormal eye physiology ( J:188765 )

• aqueous humor drainage is compromised contributing to the increase in intraocular pressure

ocular hypertension ( J:188765 )

• detected in around 50% of mice at 3 months of age and around 90% of mice at 12 months of age

nervous system

retina ganglion cell degeneration ( J:188765 )

• develop glaucomatous neurodegeneration characterized by retinal ganglion cell death following the increase in intraocular pressure

optic nerve atrophy ( J:188765 )

• develop glaucomatous neurodegeneration characterized by optic nerve atrophy following the increase in intraocular pressure

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
isolated microphthalmia 6		DOID:0060835	OMIM:613517	J:188765