Phenotype Image Detail

Image

Caption

Localization of rhodposin in 7 week old wild type (A), 7 week old Bbs2^tm1Vcs/ Bbs2^tm1Vcs (B) and 5 month old homozygous mutant (C) mice. A: In the wild type retinas, rhodopsin (green) is largely confined to the outer segments, with little labeling of inner segments. B: Homozygous mutant mice at 7 weeks of age also predominantly localize rhodopsin to the OS, although some cell bodies in the ONL also appear to be labeled (arrows). C: At 5 months of age the homozygous mutant mice do not exhibit partitioning of rhodopsin between the IS and OS. Labeling of ONL cell bodies is readily apparent. Photoreceptor degeneration in the homozygous mouse is caused by apoptosis are revealed by TUNEL labeling of the ONL (D, red). Ultrastructural analysis of homozygous mouse retina at 5 months of age reveals membranous whorls in the subretinal space (F) as compared with the orderly arrangement of membranous disks in heterozygous (E) and wild type mice. Abbreviations: outer segments (OS); inner segments (IS); outer nuclear layer (ONL). Magnifications: A-C: x380; D: x110; E & F: x3000

Copyright

This image is from Nishimura DY, Proc Natl Acad Sci U S A 2004 Nov 23;101(47):16588-93. Copyright 2004 National Academy of Sciences, U.S.A. J:94467

Associated Alleles

Symbol	Name
Bbs2^tm1Vcs	Bardet-Biedl syndrome 2; targeted mutation 1, Val C Sheffield

Associated Genotypes

Allelic Composition	Genetic Background
Bbs2^tm1Vcs/Bbs2^tm1Vcs	either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6J)