Phenotypes associated with this allele

• Allele Symbol: Adamtsl4^tvrm267
• Allele Name: translational vision research model 267
• Allele ID: MGI:5902816
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Adamtsl4^tvrm267/Adamtsl4^tvrm267	C57BL/6J-Adamtsl4^tvrm267/Pjn	MGI:5902990

Genotype
MGI:5902990

hm1

• Allelic Composition: Adamtsl4^tvrm267/Adamtsl4^tvrm267
• Genetic Background: C57BL/6J-Adamtsl4^tvrm267/Pjn

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

pigmentation

abnormal retina pigment epithelium morphology ( J:226844 )

• 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

abnormal retina pigmentation ( J:226844 )

• 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

abnormal eye morphology ( J:226844 )

• 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

lens dislocation ( J:226844 )

• 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.

abnormal ocular fundus morphology ( J:226844 )

• 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

abnormal retina pigment epithelium morphology ( J:226844 )

• 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

abnormal retina pigmentation ( J:226844 )

• 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

abnormal c-wave shape ( J:226844 )

• 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

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive isolated ectopia lentis 2		DOID:0111149	OMIM:225100	J:226844
lens disease		DOID:110		J:226844