Phenotypes Associated with This Genotype

Genotype
MGI:5444191

• Allelic Composition: Prss56^glcr4/Prss56^glcr4
• Genetic Background: B6(Cg)-Prss56^glcr4/Sj

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

vision/eye

abnormal eye morphology ( J:364267 )

• Relative to C57BL/6J controls, homozygotes develop a smaller posterior eye and shorter posterior chamber depth leading to a shorter axial length, although the anterior chamber depth is longer, and decreased corneal radius of curvature

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

decreased cornea curvature ( J:364267 )

enlarged eye anterior chamber ( J:188765 )

• in some mice at 3 months of age

abnormal eye posterior chamber depth ( J:364267 )

abnormal lens morphology ( J:364267 )

• With age there is a slight increase in lens thickness

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 , J:364267 )

• in severely affected mice (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 (J:188765)

increased total retina thickness ( J:364267 )

• with age

retina fold ( J:364267 )

• progressing with age

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

hypermetropia ( J:364267 )

• the refractive error was found to be slightly increased at 10 weeks of age, shifting toward hyperopia, but to a lesser degree than caused by the em2(IMPC)J null allele of this gene

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