Phenotypes Associated with This Genotype

Genotype
MGI:6281659

• Allelic Composition: Tg(Eif1a-LUM*L199P,-hrGFP)#Fzha/0
• Genetic Background: B6.Cg-Tg(Eif1a-LUM*L199P,-hrGFP)#Fzha

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

vision/eye

abnormal eye size ( J:250674 )

• mean axial length of the eyeball is greater than in controls

abnormal sclera morphology ( J:250674 )

• in some mice, the lamellae arrangement in the peripapillary sclera are irregular and have distorted directions, with some of the cross-sectional lamellae, longitudinal lamellae, and oblique lamellae twisted together

• shapes of scleral fibroblasts within the twisted lamellae are changed

• some collagen fibril bundles in the longitudinal lamellae are disrupted in orientation and separated by cross-sectional fibrils

• lamella of the peripapillary sclera show a reduction in collagen fibril diameter and increased frequency of small-diameter collagen fibrils

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
myopia		DOID:11830	OMIM:160700 OMIM:255500 OMIM:300613 OMIM:310460 OMIM:603221 OMIM:608367 OMIM:608474 OMIM:608908 OMIM:609256 OMIM:609257 OMIM:609258 OMIM:609259 OMIM:609994 OMIM:609995 OMIM:610320 OMIM:612554 OMIM:612717 OMIM:613959 OMIM:613969 OMIM:614166 OMIM:614167 OMIM:615420 OMIM:615431 OMIM:615946	J:250674