Strain Name:

B6;129S7-Del(5Limk1-Trim50)2Uta/J

Stock Number:

023888

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Availability:

Under Development - Now Accepting Orders

Estimated Available for Distribution Date: 08-SEP-14
Use Restrictions Apply, see Terms of Use
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).

Description

Strain Information

Type Deletion;
Additional information on Mice with Chromosomal Aberrations.
Type Mutant Stock; Targeted Mutation;
Additional information on Genetically Engineered and Mutant Mice.
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Mating SystemWild-type x Heterozygote         (Female x Male)   06-MAY-14
Mating SystemHeterozygote x Wild-type         (Female x Male)   06-MAY-14
Specieslaboratory mouse
Generation?+pN1 (28-JUL-14)
Generation Definitions
 
Donating Investigator Karl Deisseroth,   Stanford University

Description
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.

Development
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.

Control Information

  Control
   Wild-type from the colony
 
  Considerations for Choosing Controls

Phenotype

Phenotype Information

View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      assigned by genotype

Del(5Limk1-Trim50)2Uta/+

        involves: 129S7/SvEvBrd * C57BL/6J
  • mortality/aging
  • premature death
    • some female mice exhibit rectal or vaginal prolapse leading to euthanasia   (MGI Ref ID J:182796)
  • reproductive system phenotype
  • abnormal vagina morphology
    • vaginal prolapse in some female mice leading to euthanasia   (MGI Ref ID J:182796)
  • behavior/neurological phenotype
  • abnormal social investigation
    • in a partition test, mice exhibit increased social interest compared with wild-type mice   (MGI Ref ID J:182796)
  • abnormal startle reflex
    • the percent inhibition of startle caused by the presence of a gap in the sound is increased compared to in wild-type mice   (MGI Ref ID J:182796)
  • decreased exploration in new environment
    • in an open field test   (MGI Ref ID J:182796)
  • impaired contextual conditioning behavior   (MGI Ref ID J:182796)
  • impaired cued conditioning behavior   (MGI Ref ID J:182796)
  • nervous system phenotype
  • *normal* nervous system phenotype
    • mice exhibit normal lateral ventricle size   (MGI Ref ID J:182796)
    • decreased brain size   (MGI Ref ID J:182796)
      • decreased brain weight   (MGI Ref ID J:182796)
  • craniofacial phenotype
  • *normal* craniofacial phenotype
    • mice exhibit normal teeth morphology   (MGI Ref ID J:182796)
    • abnormal cranium size
      • foreshortened, more so in female mice than in male mice   (MGI Ref ID J:182796)
      • decreased cranium width
        • in the anterior and mid-portions, more so in female mice than in male mice   (MGI Ref ID J:182796)
    • abnormal facial morphology
      • shortened face   (MGI Ref ID J:182796)
  • growth/size/body phenotype
  • abnormal facial morphology
    • shortened face   (MGI Ref ID J:182796)
  • decreased body weight
    • from P1 to P5 onward in female mice   (MGI Ref ID J:182796)
    • mice are less affected than mice carrying Del(5Gtf2i-Limk1)1Uta   (MGI Ref ID J:182796)
    • however, male mice exhibit normal body weight   (MGI Ref ID J:182796)
  • herniated abdominal wall
    • starting at 2 months and worsening with time   (MGI Ref ID J:182796)
    • not as severe as in mice carrying Del(5Gtf2i-Limk1)1Uta and Del(5Limk1-Trim50)2Uta   (MGI Ref ID J:182796)
    • additional backcrosses to C57BL/6J reduces incidence of hernia   (MGI Ref ID J:182796)
  • postnatal growth retardation   (MGI Ref ID J:182796)
  • cardiovascular system phenotype
  • abnormal blood vessel physiology
    • mice exhibit reduced abdominal aortic anterior wall motion compared with wild-type mice   (MGI Ref ID J:182796)
  • digestive/alimentary phenotype
  • rectal prolapse
    • in some female mice leading to euthanasia   (MGI Ref ID J:182796)
  • skeleton phenotype
  • abnormal cranium size
    • foreshortened, more so in female mice than in male mice   (MGI Ref ID J:182796)
    • decreased cranium width
      • in the anterior and mid-portions, more so in female mice than in male mice   (MGI Ref ID J:182796)
View Research Applications

Research Applications
This mouse can be used to support research in many areas including:

Developmental Biology Research
Growth Defects
Neurodevelopmental Defects
Skeletal Defects

Neurobiology Research
Behavioral and Learning Defects
Neurodevelopmental Defects

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol Del(5Limk1-Trim50)2Uta
Allele Name deletion, Chr 5, Uta Francke 2
Allele Type Targeted
Common Name(s) DD;
Strain of Origin129S7/SvEvBrd-Hprt
Gene Symbol and Name Del(5Limk1-Trim50)2Uta, deletion, Chr 5, Uta Francke 2
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). [MGI Ref ID J:182796]

Genotyping

Genotyping Information

Genotyping Protocols

Del(5Limk1-Trim50)2Uta, Standard PCR


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Selected Reference(s)

Li HH; Roy M; Kuscuoglu U; Spencer CM; Halm B; Harrison KC; Bayle JH; Splendore A; Ding F; Meltzer LA; Wright E; Paylor R; Deisseroth K; Francke U. 2009. Induced chromosome deletions cause hypersociability and other features of Williams-Beuren syndrome in mice. EMBO Mol Med 1(1):50-65. [PubMed: 20049703]  [MGI Ref ID J:182796]

Additional References

Del(5Limk1-Trim50)2Uta related

Campuzano V; Segura-Puimedon M; Terrado V; Sanchez-Rodriguez C; Coustets M; Menacho-Marquez M; Nevado J; Bustelo XR; Francke U; Perez-Jurado LA. 2012. Reduction of NADPH-oxidase activity ameliorates the cardiovascular phenotype in a mouse model of Williams-Beuren Syndrome. PLoS Genet 8(2):e1002458. [PubMed: 22319452]  [MGI Ref ID J:181479]

Goergen CJ; Li HH; Francke U; Taylor CA. 2011. Induced chromosome deletion in a Williams-Beuren syndrome mouse model causes cardiovascular abnormalities. J Vasc Res 48(2):119-29. [PubMed: 20926892]  [MGI Ref ID J:182794]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

Room Number           AX12

Colony Maintenance

Breeding & HusbandryHeterozygotes are viable and fertile, but homozyotes are not.
Mating SystemWild-type x Heterozygote         (Female x Male)   06-MAY-14
Heterozygote x Wild-type         (Female x Male)   06-MAY-14

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls


 

This strain is currently Under Development - Now Accepting Orders.
Estimated Available for Distribution Date: 08-SEP-14

Please note: You may now place orders for this strain although it is not yet ready for distribution. Estimated available for distribution dates are provided to keep customers better informed on strains under development. Please note that our Colony Managers routinely monitor the target date and edit it based on breeding performance and other factors. The length of time it takes to make a new strain available for distribution depends on genotype, age, number of animals sent by the Donating Investigator, breeding performance, additional strain development (backcrossing, making homozygous), and anticipated demand for the strain.

Pricing for USA, Canada and Mexico shipping destinations View International Pricing

Live Mice

Price per mouse (US dollars $)GenderGenotypes Provided
Individual Mouse $232.00Female or MaleHeterozygous for Del(5Limk1-Trim50)2Uta  
Price per Pair (US dollars $)Pair Genotype
$304.00Heterozygous for Del(5Limk1-Trim50)2Uta x Wild-type for Del(5Limk1-Trim50)2Uta  
$304.00Wild-type for Del(5Limk1-Trim50)2Uta x Heterozygous for Del(5Limk1-Trim50)2Uta  

Standard Supply

Under Development - Now Accepting Orders The strain development process (i.e. importation, rederivation, and colony expansion) usually takes six to nine months.

Pricing for International shipping destinations View USA Canada and Mexico Pricing

Live Mice

Price per mouse (US dollars $)GenderGenotypes Provided
Individual Mouse $301.60Female or MaleHeterozygous for Del(5Limk1-Trim50)2Uta  
Price per Pair (US dollars $)Pair Genotype
$395.20Heterozygous for Del(5Limk1-Trim50)2Uta x Wild-type for Del(5Limk1-Trim50)2Uta  
$395.20Wild-type for Del(5Limk1-Trim50)2Uta x Heterozygous for Del(5Limk1-Trim50)2Uta  

Standard Supply

Under Development - Now Accepting Orders The strain development process (i.e. importation, rederivation, and colony expansion) usually takes six to nine months.

View USA Canada and Mexico Pricing View International Pricing

Standard Supply

Under Development - Now Accepting Orders The strain development process (i.e. importation, rederivation, and colony expansion) usually takes six to nine months.

Control Information

  Control
   Wild-type from the colony
 
  Considerations for Choosing Controls
  Control Pricing Information for Genetically Engineered Mutant Strains.
 

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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.
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