Analysis Tools
vision/eye
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• some depigmented patches are seen in retinal whole mounts corresponding to areas with choroid hypopigmentation
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• some empty areas are present in the retinal pigment epithelium (RPE) cells, identified as large vacuoles
• however, the number of pigmented melanosomes per RPE is no different from wild-type
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• ERG amplitudes are smaller in responses elicited by the higher intensity flashes, with the maximum mean value of the scotopic mixed a-wave amplitude reduced by 21% in adults
• however, amplitude of a-wave in cone-driven ERG response by a scotopic double flash protocol is not different
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• the mean maximum value of the scotopic b-wave amplitude is reduced is adults
• however, amplitude of b-wave in cone-driven ERG response by a scotopic double flash protocol is not different
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• mice exhibit reduced visual acuity
• however, no loss of photoreceptors is seen and retinal structure is maintained and no signs of anterior segment dysgenesis is seen
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nervous system
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• the dorsal lateral geniculate nucleus (dLGN) is smaller compared to heterozygotes
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• mice show a deficit in retinal axonal projections, with misrouting of the ganglion cell ipsilateral projections
• ipsilateral projection is reduced both at the optic chiasm at +18.5 dpc and in brain targets in adults, especially in the superior colliculus and in the dLGN
• the caudal dLGN shows an ectopic patch of contralateral projections at the periphery, adjacent to the optic tract
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pigmentation
| N |
• pigmentation of coat, iris, and melanin content in the eye are normal
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• some depigmented patches are seen in retinal whole mounts corresponding to areas with choroid hypopigmentation
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• some empty areas are present in the retinal pigment epithelium (RPE) cells, identified as large vacuoles
• however, the number of pigmented melanosomes per RPE is no different from wild-type
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| foveal hypoplasia 2 | DOID:0070531 |
OMIM:609218 |
J:343795 | |
