Mouse Genome Informatics
ot
    Ndptm1Wbrg/Y
involves: 129P2/OlaHsd * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
vision/eye
• hyperpigmentation of the retinal pigment epithelium is evident within severely affectes areas (J:30902)
• at 4 and 26 weeks, a general disorganization of the ganglion cell layer is observed, with some nuclei migrating into the inner plexiform layer (J:30902)
• at 4 and 26 weeks, occasional changes in the inner nuclear layers are observed (J:30902)
• nuclei from the inner nuclear layer are occasionally displaced into the photoreceptor layer (J:30902)
• even when inner nuclear and photoreceptor layers are only mildly affected, the changes within the vitreous body and the ganglion cell layer are prominent (J:30902)
• at 4 and 26 weeks, occasional changes in the outer nuclear layers are observed (J:30902)
• nuclei from the outer nuclear layer are occasionally displaced into the outer plexiform and the inner nuclear layer (J:30902)
• the outer plexiform layer disappears in severely affected areas (J:30902)
• relocation of nuclei from the inner nuclear layers into the photoreceptor layer leads to the disappearance of photoreceptors (J:30902)
• the outer segments of the photoreceptor cells disappear within severely affected areas (J:30902)
• by 10-20 weeks, all male hemizygotes show pathological signs with a variable age of onset (J:30902)
• at 3 weeks, 3 of 6 male hemizygotes exhibit conspicuous precipitate-like retrolental structures in the vitreous body; the variation in number and size of precipitates is age-independent (J:30902)
• in addition to the precipitates, depigmented bundles or stripes are noted in some eyes and interpreted as retinal folding or detachment (J:30902)
• at 4 and 26 weeks, fibrous masses (retrolental patterns) are observed within the vitreous bodies of all eyes examined (J:30902)

pigmentation
• hyperpigmentation of the retinal pigment epithelium is evident within severely affectes areas (J:30902)

nervous system
• relocation of nuclei from the inner nuclear layers into the photoreceptor layer leads to the disappearance of photoreceptors (J:30902)
• the outer segments of the photoreceptor cells disappear within severely affected areas (J:30902)

Mouse Models of Human Disease
OMIM IDRef(s)
Exudative Vitreoretinopathy 2, X-Linked; EVR2 305390 J:158585
Norrie Disease; ND 310600 J:30902