This strain carries a human BBS4 (Bardet-Biedl syndrome 4 (human)) transgene, useful in studies of ciliopathies.
Val Sheffield, University of Iowa, HHMI
Genetic Background | Generation |
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Allele Type |
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Transgenic (Inserted expressed sequence, Humanized sequence) |
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).
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.
Expressed Gene | BBS4, Bardet-Biedl syndrome 4, human |
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Expressed Gene | 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. |
Allele Name | transgene insertion 4T25, Val C Sheffield |
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Allele Type | Transgenic (Inserted expressed sequence, Humanized sequence) |
Allele Synonym(s) | Bbs4-pLAP; LAP-BBS4 |
Gene Symbol and Name | Tg(CMV-GFP,-BBS4)4T25Vcs, transgene insertion 4T25, Val C Sheffield |
Gene Synonym(s) | |
Promoter | CMV, cytomegalovirus, human |
Expressed Gene | BBS4, Bardet-Biedl syndrome 4, human |
Expressed Gene | 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. |
Strain of Origin | C57BL/6J x SJL/J |
Chromosome | UN |
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. |
Mutations Made By | Val Sheffield, University of Iowa, HHMI |
Hemizygotes are viable and fertile.
When using the STOCK Tg(CMV-GFP,-BBS4)4T25Vcs/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #019082 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
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Hemizygous or Non carrier for Tg(CMV-GFP,-BBS4)4T25Vcs |
Frozen Mouse Embryo | STOCK Tg(CMV-GFP -BBS4)4T25Vcs/J Frozen Embryo | $2595.00 |
Frozen Mouse Embryo | STOCK Tg(CMV-GFP -BBS4)4T25Vcs/J Frozen Embryo | $2595.00 |
Frozen Mouse Embryo | STOCK Tg(CMV-GFP -BBS4)4T25Vcs/J Frozen Embryo | $3373.50 |
Frozen Mouse Embryo | STOCK Tg(CMV-GFP -BBS4)4T25Vcs/J Frozen Embryo | $3373.50 |
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