Phenotype Image Detail

Image

Caption

Light micrographs showing pathology from wild type (WT) (A,F,H) and Naglu^tm1Efn/Naglu^tm1Efn (MPS IIIB) (B-D, E,G,I) mouse retinas (A-E), sclera (F,G), and ciliary bodies (H,I). A: Normal histology from a 4-week old wild type mouse retina is shown and is indistinguishable from older wild type retinas at 45 weeks. B: In the 8-week old mutant mouse retina, aberrant lysosomal storage can be seen in non-neuronal cells in the inner retina (arrow). Inset: Localized disruption of the retinal pigment epithelium (RPE) from a nearby region of the same retinal section is shown. C: At about 16 weeks, the outer segments (OS) of the mutant mouse are shortened, the outer nuclear layer (ONL) is reduced by 2-4 rows of nuclei, and pyknotic nuclei are seen in the ONL (arrow). Macrophage-like cells are present in the subretinal space (arrowhead). D: In the 30-week old mutant mouse retina, OSs are further shortened and the ONL is reduced by nearly half. Inset: higher magnification of the boxed area showing dense, round melanosome-like structures in the RPE. E: By 34 weeks, a subpopulation of cells in the ganglion cell layer (GCL) has a dense appearance with numerous lysosomal inclusions in the cytoplasm. F: Normal histology from a 4-week old wild type mouse sclera is shown. G: Lysosomal storage appears as pale vesicles in the sclera of the mutant mouse (arrowheads). H: Normal histology from a 4-week old wild type mouse ciliary body is shown. I: By 30 weeks of age, the ciliary body of the mutant mouse appears disorganized and swollen with lysosomal storage vesicles (arrow). Numerous dense, round melanosome-like structures are seen (arrowhead). IS, photoreceptor inner segments; OPL, outer plexiform layer; INL inner nuclear layer; IPL, inner plexiform layer. Smaller bar = 10 micron for A-D, H, I. Larger bar = 10 micron for E-G.

Copyright

This image is from Heldermon CD, PLoS ONE 2007;2(1):e772, and is displayed under the terms of the Creative Commons Attribution 4.0 International License. J:129390

Associated Alleles

Symbol	Name
Naglu^tm1Efn	alpha-N-acetylglucosaminidase (Sanfilippo disease IIIB); targeted mutation 1, Elizabeth F Neufeld

Associated Genotypes

Allelic Composition	Genetic Background
Naglu^tm1Efn/Naglu^tm1Efn	involves: 129S/SvEv * C57BL/6J