Homozygous Bbs2 (Bardet-Biedl syndrome 2 (human)) targeted mutant animals develop obesity that increases with age. They have phenotypes associated with selective cilia dysfunction, including retinopathy, renal cysts, and a deficit in olfaction. Male sperm do not develop flagella, causing infertility. Mice also exhibit a defect in social function. This strain may be useful as a model for Bardet-Biedl syndrome.
Val Sheffield, University of Iowa, HHMI
Genetic Background | Generation |
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|
Allele Type | Gene Symbol | Gene Name |
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Targeted (Null/Knockout) | Bbs2 | Bardet-Biedl syndrome 2 (human) |
Homozygous targeted mutant animals develop obesity that increases with age (cause unknown). They have phenotypes associated with selective cilia dysfunction, including retinopathy, renal cysts, and a deficit in olfaction. Retinal degeneration is characterized by a mislocalization of rhodopsin followed by photoreceptor apoptosis. Male sperm do not develop flagella, causing infertility. Heterozygous crosses produce fewer homozygotes than predicted by Mendelian ratios. Mice also exhibit a defect in social function. This strain may be useful as a model for Bardet-Biedl syndrome.
Exons 5-13 of the targeted gene were replaced with a neomycin resistance cassette. The mutation was created in (129X1/SvJ x 129S1/Sv)F1- Kitl+-derived R1 embryonic stem (ES) cells. This strain was backcrossed seven times to C57BL/6 by the donating laboratory.
Allele Name | targeted mutation 1, Val C Sheffield |
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Allele Type | Targeted (Null/Knockout) |
Allele Synonym(s) | Bbs2- |
Gene Symbol and Name | Bbs2, Bardet-Biedl syndrome 2 (human) |
Gene Synonym(s) | |
Strain of Origin | (129X1/SvJ x 129S1/Sv)F1-Kitl+ |
Chromosome | 8 |
Molecular Note | Exons 5-13 were replaced with a neo. Northern blot showed a lack of transcript in mutant kidney samples. |
Mutations Made By | Val Sheffield, University of Iowa, HHMI |
When maintained as a live colony, heterozygotes may be bred. Homozygous males are infertile due to lack of sperm flagella. Heterozygous crosses produce fewer homozygotes than predicted by Mendelian ratios.
When using the B6.129-Bbs2tm1Vcs/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #010727 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
---|---|---|
Heterozygous or wildtype for Bbs2<tm1Vcs> |
Frozen Mouse Embryo | B6.129-Bbs2<tm1Vcs>/J Frozen Embryo | $2595.00 |
Frozen Mouse Embryo | B6.129-Bbs2<tm1Vcs>/J Frozen Embryo | $2595.00 |
Frozen Mouse Embryo | B6.129-Bbs2<tm1Vcs>/J Frozen Embryo | $3373.50 |
Frozen Mouse Embryo | B6.129-Bbs2<tm1Vcs>/J Frozen Embryo | $3373.50 |
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