Homozygous M390R mutant Bbs1 (Bardet-Biedl syndrome 1 (human)) animals exhibit photoreceptor degeneration and severe obesity. Mice are hyperphagic and hyperleptinemic with reduced locomotor activity but no elevation of mean arterial blood pressure. Lateral ventricles in the brain are enlarged and the corpus striatum is reduced. Males lack sperm flagella and are infertile.
Val Sheffield, University of Iowa, HHMI
Genetic Background | Generation |
---|---|
|
Allele Type | Gene Symbol | Gene Name |
---|---|---|
Targeted | Bbs1 | Bardet-Biedl syndrome 1 (human) |
Homozygous M390R mutant animals exhibit photoreceptor degeneration and severe obesity. By week 12, homozygous mutant mice are significantly heavier than wildtype or heterozygous mice. Animals are hyperphagic and hyperleptinemic with reduced locomotor activity but no elevation of mean arterial blood pressure. Lateral ventricles in the brain are enlarged and the corpus striatum is reduced. Males lack sperm flagella and are infertile. Although a model of Bardet-Biedl syndrome (BBS, these mice do not demonstrate polycactyly or renal cysts. Expression levels are comparable to those of wildtype mice as determined by Northern blot. Homozygotes are recovered at predicted Mendelian ratios from heterozygous crosses.
A methionine to arginine (ATG to AGG) mutation was introduced at codon 390 (exon 12) and an in-frame neomycin resistance cassette was placed in intron 12 of the targeted gene. The (129X1/SvJ x 129S1/Sv)F1- Kitl+-derived R1 embryonic stem (ES) cell line was used to create the mutation. This strain was backcrossed seven times to C57BL/6 by the donating laboratory.
Allele Name | targeted mutation 1, Val C Sheffield |
---|---|
Allele Type | Targeted |
Allele Synonym(s) | Bbs1M390R |
Gene Symbol and Name | Bbs1, Bardet-Biedl syndrome 1 (human) |
Gene Synonym(s) | |
Promoter | Bbs1, Bardet-Biedl syndrome 1 (human), mouse, laboratory |
Strain of Origin | (129X1/SvJ x 129S1/Sv)F1-Kitl+ |
Chromosome | 19 |
Molecular Note | The methionine codon (ATG) at position 390 in exon 12 was replaced with an arginine codon (AGG) and a neo cassette was inserted into intron 12 via homologous recombination. Northern blot analysis indicated that mRNA expression is not reduced in homozygous brains. |
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.
When using the B6.129-Bbs1tm1Vcs/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #010726 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
---|---|---|
Heterozygous or wildtype for Bbs1<tm1Vcs> |
Frozen Mouse Embryo | B6.129-Bbs1<tm1Vcs>/J Frozen Embryo | $2595.00 |
Frozen Mouse Embryo | B6.129-Bbs1<tm1Vcs>/J Frozen Embryo | $2595.00 |
Frozen Mouse Embryo | B6.129-Bbs1<tm1Vcs>/J Frozen Embryo | $3373.50 |
Frozen Mouse Embryo | B6.129-Bbs1<tm1Vcs>/J Frozen Embryo | $3373.50 |
Terms are granted by individual review and stated on the customer invoice(s) and account statement. These transactions are payable in U.S. currency within the granted terms. Payment for services, products, shipping containers, and shipping costs that are rendered are expected within the payment terms indicated on the invoice or stated by contract. Invoices and account balances in arrears of stated terms may result in The Jackson Laboratory pursuing collection activities including but not limited to outside agencies and court filings.
The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.
What information were you hoping to find through your search?
How easy was it to find what you were looking for?
We may wish to follow up with you. Enter your email if you are happy for us to connect and reachout to you with more questions.
Please Enter a Valid Email Address
Thank you for sharing your feedback! We are working on improving the JAX Mice search. Come back soon for exciting changes.