STOCK Tg(CMV-GFP,-BBS4)4T25Vcs/J

Stock number: 019082
Research areas: Cell Biology Research, Research Tools

Description

This strain carries a human BBS4 (Bardet-Biedl syndrome 4 (human)) transgene, useful in studies of ciliopathies.

Detailed description

Bbs4 (Bardet-Biedl syndrome 4 (human)) is a member of a family of genes involved with the formation and function of primary cilia. These cellular projections act as antennas that transduce extracellular signals into cells that regulate cell cycle, embryonic development, and tissue homeostasis. Defects in Bbs4 cause retinal degeneration and male infertility in mice. It is one of several genes associated with human Bardet-Biedl Syndrome (BBS), a ciliary dysfunction disorder with a range of physiological characteristics.

These mice carry a human BBS4 transgene flagged with GFP and an S-tag under the control of a cytomegalovirus (CMV) immediate early promoter. LAP-BBS4 co-localizes with PCM1 (pericentriolar material 1) protein at centriolar satellites in non-ciliated cells as well as inside primary cilia (without PCM1). Expression of BBS4 is 2-3 fold higher than that of the endogenous mouse Bbs4 gene in the eye and testis. The GFP and S-tag enable localization studies and tandem affinity purification. GFP can be visualized directly but is more intense using antibody detection. Although no independent phenotype has been identified, this transgene has been shown to restore sperm flagella and fertility in Bbs4 knockout mice (see Stock No. 010728 and Stock No. 010752).

Development

Human BBS4 and a LAP tag (GFP followed by a cleavage site for Tobacco Etch Virus (TEV) protease and an S-tag) were placed under the control of cytomegalovirus (CMV) immediate early (IE94) promoter in a transgenic vector. The vector was introduced to B6SJL (C57BL/6J x SJL/J) embryos. This strain was maintained on a mixed background incorporating C57BL/6J and 129X1/SvJ by the donating laboratory.

Allele

Symbol: Tg(CMV-GFP,-BBS4)4T25Vcs
Name: transgene insertion 4T25, Val C Sheffield
MGI accession ID: MGI:5432908
Generation method: Transgenic
Attributes: Inserted expressed sequence; Humanized sequence
Synonyms: Bbs4-pLAP; LAP-BBS4
Marker symbol: Tg(CMV-GFP,-BBS4)4T25Vcs
Marker name: transgene insertion 4T25, Val C Sheffield
Chromosome: UN
Strain of origin: C57BL/6J x SJL/J
Expressed genes: BBS4,Bardet-Biedl syndrome 4,human; GFP,Green Fluorescent Protein,
Site of expression: BBS4 co-localizes with PCM1 (pericentriolar material 1) protein at centriolar satellites in non-ciliated cells as well as inside primary cilia (without PCM1), with expression 2-3 fold higher than that of the endogenous mouse Bbs4 gene in the eye and testis.
Molecular note: Human BBS4 and a LAP tag (GFP followed by a cleavage site for Tobacco Etch Virus (TEV) protease and an S-tag) were placed under the control of cytomegalovirus (CMV) immediate early (IE94) promoter in a transgenic vector. Three lines were generated with the highest expression level in line 4T25.