The neurodevelopmental disorder Williams-Beuren Syndrome (WBS) is caused by spontaneous 1.5 Mb deletions comprising 25 genes on human chromosome 7q11.23. This mutant mouse strain carries a deletion corresponding to the distal half of the conserved syntenic region on mouse Chromosome 5G2, referred to as the distal deletion (DD).
Karl Deisseroth, Stanford University
Genetic Background | Generation |
---|---|
|
Allele Type | Gene Symbol | Gene Name |
---|---|---|
Targeted (Null/Knockout) | Del(5Limk1-Trim50)2Uta | deletion, Chr 5, Uta Francke 2 |
The neurodevelopmental disorder Williams-Beuren Syndrome (WBS) is caused by spontaneous
1.5 Mb deletions comprising 25 genes on human chromosome 7q11.23. This mutant mouse strain carries a deletion corresponding to the proximal half of the conserved syntenic region on mouse Chromosome 5G2, referred to as the distal deletion (DD).
DD mice lack a genomic segment between and including the Limk1 to Trim50 genes. Crosses with animals lacking genomic sequences corresponding to the proximal portion of the WBS deletion region (see Stock No. 023885; also called PD) create double heterozygous animals with deletions representing the length of the WBS region (D/P mice). Both PD and D/P males are growth-retarded, while skulls are shortened and brains are smaller in DD and D/P. Lateral ventricle volumes are reduced, and neuronal cell density in the somatosensory cortex is increased, in PD and D/P. Motor skills are most impaired in D/P animals and their fertility is somewhat reduced. Together, these partial deletion mice replicate crucial aspects of the human disorder and serve to identify genes and gene networks contributing to the neural substrates of complex behaviours and behavioural disorders.
A genomic segment corresponding to the distal portion of the Williams-Beuren Syndrome (WBS) deletion region was excised in these mice. To create the mutation, a neomycin resistance cassette, a loxP site, the 5' portion of the Hprt minigene, and Limk1 exons 3 and 4 were introduced to intron 2 of the Limk1 locus. The 3' portion of the Hprt minigene, loxP site and puromycin resistance cassette were inserted into intron 2 of the Trim50 gene. These mutations were introduced through homologous recombination to AB2.2 129S7/SvEvBrd-Hprt1b-m2-derived embryonic stem (ES) cells. Resultant chimeric mice were crossed with Zp3-cre transgenic mice (see Stock No. 003651) to excise the genomic region flanked by loxP sites. These mice were maintained on a mixed C57BL/6J and 129 genetic background by the donating laboratory.
Allele Name | deletion, Chr 5, Uta Francke 2 |
---|---|
Allele Type | Targeted (Null/Knockout) |
Allele Synonym(s) | DD; Del2Uta |
Gene Symbol and Name | Del(5Limk1-Trim50)2Uta, deletion, Chr 5, Uta Francke 2 |
Gene Synonym(s) | |
Strain of Origin | 129S7/SvEvBrd-Hprtb-m2 |
Chromosome | 5 |
Molecular Note | Cre-mediated recombination of ES cells carrying Limk1tm1Uta and Trim50tm1Uta removed all genomic sequence between the two alleles (including Limk1, Eln, Wbscr26, Cldn13, Wbscr27, Cldn4, Cldn3, Abhd11, Stx1a, Wbscr22, Wbscr18, Vps37d, Mlxipl, Tbl2, Bcl7b, Baz1b, Fzd9, Fkbp6 and Trim50). |
Heterozygotes are viable and fertile, but homozyotes are not.
When using the B6;129S7-Del(5Limk1-Trim50)2Uta/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #023888 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
---|---|---|
Heterozygous or wildtype for Del(5Limk1-Trim50)2Uta |
Frozen Mouse Embryo | B6;129S7-Del(5Limk1-Trim50)2Uta/J Frozen Embryo | $2595.00 |
Frozen Mouse Embryo | B6;129S7-Del(5Limk1-Trim50)2Uta/J Frozen Embryo | $2595.00 |
Frozen Mouse Embryo | B6;129S7-Del(5Limk1-Trim50)2Uta/J Frozen Embryo | $3373.50 |
Frozen Mouse Embryo | B6;129S7-Del(5Limk1-Trim50)2Uta/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.