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Phenotypes Associated with This Genotype
Genotype
MGI:5902990
Allelic
Composition
Adamtsl4tvrm267/Adamtsl4tvrm267
Genetic
Background
C57BL/6J-Adamtsl4tvrm267/Pjn
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Adamtsl4tvrm267 mutation (1 available); any Adamtsl4 mutation (63 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
pigmentation
• in the areas corresponding to the focal lesions found in bright field fundus imaging a significant reduction in apical F-actin is found and many retinal pigment epithelial cells in lesions have an increased diameter and Feret diameter, and at one year of age the retina has regions of severely thinned and depigmented retinal epithelial cells with lareger areas of hypopigmentation adjacent to areas of hyperpigmentation
• fundus images suggest a reduction or complete loss of pigment in areas of focal lesions, and in older mice ectopic pigmented cells are often found directly adjacent to the apical surface of the retinal pigment epithelium

vision/eye
• although the pupil shape and location are normal, the ocular axial length at 9 months of age in homozygotes that have strong phenotypic expressivity, assessed by the extent of retinal pigment epithelial lesions, is an average of 4.8% longer
• oxytalan fiber staining of fibrillin microfibrils shows normal continuity from the ciliary body to the lens at birth and 3 weeks of age, but at 3 and 6 months of age the zonule fibers arise from the ciliary body but fail to insert in the lens epithelium and are found to be disorganized when assessed by scanning electron micrograph of the ciliary body. There is variation in the severity of disease between eyes and between different homozygotes.
• bright focal lesions of various sizes surround the posterior pole in a splatter pattern, but they lack the raised appearance observed in retinal dysplasia models
• in the areas corresponding to the focal lesions found in bright field fundus imaging a significant reduction in apical F-actin is found and many retinal pigment epithelial cells in lesions have an increased diameter and Feret diameter, and at one year of age the retina has regions of severely thinned and depigmented retinal epithelial cells with lareger areas of hypopigmentation adjacent to areas of hyperpigmentation
• fundus images suggest a reduction or complete loss of pigment in areas of focal lesions, and in older mice ectopic pigmented cells are often found directly adjacent to the apical surface of the retinal pigment epithelium
• an age-related reduction in dc-ERG c-wave is found with normal amplitudes at 1 month of age, but decreasing amplitudes at 3 and 6 months of age, and the fast oscillation, LP, and off-response components of the dc-ERG also show age-dependent amplitude reductions


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
02/23/2021
MGI 6.16
The Jackson Laboratory