Overview

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).

Donating Investigator

Karl Deisseroth, Stanford University

Genetic overview

Genetic Background	Generation

Del(5Limk1-Trim50)2Uta

Allele Type	Gene Symbol	Gene Name
Targeted (Null/Knockout)	Del(5Limk1-Trim50)2Uta	deletion, Chr 5, Uta Francke 2

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Research Applications

Developmental Biology Research
Neurobiology Research

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Base Price

Starting at:

$2,854.50 Domestic price Cryo Recovery

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Details

Detailed 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-Hprt1^b-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 Suggestions

Wild-type from the colony

Additional Information

Considerations for Choosing Controls

Selected References

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):50-65PubMed: 20049703 MGI: J:182796

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Genetics

Del(5Limk1-Trim50)2Uta

Allele Symbol: Del(5Limk1-Trim50)2Uta

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-Hprt^b-m2
Chromosome	5
Molecular Note	Cre-mediated recombination of ES cells carrying Limk1^tm1Uta and Trim50^tm1Uta 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).

Disease/Phenotype

Disease Terms

Research Areas By Phenotype

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

Developmental Biology Research
- Growth Defects
- Skeletal Defects
- Neurodevelopmental Defects
Neurobiology Research
- Behavioral and Learning Defects
- Neurodevelopmental Defects

Mammalian Phenotype Terms by Genotype

The following phenotype relates to a compound genotype created using this strain

Genotype: Del(5Limk1-Trim50)2Uta/+
involves: 129S7/SvEvBrd * C57BL/6J

digestive/alimentary phenotype

rectal prolapse
- in some female mice leading to euthanasia

growth/size/body region phenotype

short face
- shortened face

herniated abdominal wall
- starting at 2 months and worsening with time
- Background Sensitivity - additional backcrosses to C57BL/6J reduces incidence of hernia
- not as severe as in mice carrying Del(5Gtf2i-Limk1)1Uta and Del(5Limk1-Trim50)2Uta

decreased body weight
- from P1 to P5 onward in female mice
- mice are less affected than mice carrying Del(5Gtf2i-Limk1)1Uta
- Normal - however, male mice exhibit normal body weight

postnatal growth retardation

mammalian phenotype

craniofacial phenotype
- Normal - mice exhibit normal teeth morphology

nervous system phenotype
- Normal - mice exhibit normal lateral ventricle size

behavior/neurological phenotype

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

decreased exploration in new environment
- in an open field test

impaired contextual conditioning behavior

impaired cued conditioning behavior

abnormal social investigation
- in a partition test, mice exhibit increased social interest compared with wild-type mice

mortality/aging

premature death
- some female mice exhibit rectal or vaginal prolapse leading to euthanasia

nervous system phenotype

decreased brain size

decreased brain weight

reproductive system phenotype

abnormal vagina morphology
- vaginal prolapse in some female mice leading to euthanasia

skeleton phenotype

abnormal cranium size
- foreshortened, more so in female mice than in male mice

decreased cranium width
- in the anterior and mid-portions, more so in female mice than in male mice

cardiovascular system phenotype

abnormal blood vessel physiology
- mice exhibit reduced abdominal aortic anterior wall motion compared with wild-type mice

craniofacial phenotype

decreased cranium width
- in the anterior and mid-portions, more so in female mice than in male mice

short face
- shortened face

abnormal cranium size
- foreshortened, more so in female mice than in male mice

References

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):50-65PubMed: 20049703 MGI: J:182796

Additional - Del(5Limk1-Trim50)2Uta related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Standard PCR:Del(5Limk1-Trim50)2Uta
- Standard PCR:Del(5Limk1-Trim50)2Uta
- Genotyping resources and troubleshooting
Breeding Considerations

Heterozygotes are viable and fertile, but homozyotes are not.
- Additional Breeding and Husbandry Support
Citation
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.

Animal Health Reports

Facility Barrier Level Descriptions

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200

Pricing & Availability

Cryo Recovery

Domestic
International

Live Mouse

Age

Genotype

Price

weeks

Cryorecovery - Pricing

Service/Product	Description	Price
	Heterozygous or wildtype for Del(5Limk1-Trim50)2Uta

Related Products and Services

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

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The Jackson Laboratory's Genotype Promise

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.

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General Terms and Conditions

Questions about Terms of Use

Additional Use Restrictions Apply

Use of MICE by companies or for-profit entities requires a license prior to shipping.

Licensing Information

Phone: 207-288-6470

Email: TechTran@jax.org

Donating Investigator

Genetic overview

Research Applications

Base Price

Detailed Description

Development

Control Suggestions

Additional Information

Selected References

Del(5Limk1-Trim50)2Uta

Allele Symbol: Del(5Limk1-Trim50)2Uta

Disease Terms

Research Areas By Phenotype

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

Mammalian Phenotype Terms by Genotype

Genotype: Del(5Limk1-Trim50)2Uta/+involves: 129S7/SvEvBrd * C57BL/6J

digestive/alimentary phenotype

growth/size/body region phenotype

mammalian phenotype

behavior/neurological phenotype

mortality/aging

nervous system phenotype

reproductive system phenotype

skeleton phenotype

cardiovascular system phenotype

craniofacial phenotype

References

Additional - Del(5Limk1-Trim50)2Uta related

Genotyping Protocols

Breeding Considerations

Citation

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200

Live Mouse

Cryorecovery - Pricing

Related Products and Services

Payment Terms and Conditions

The Jackson Laboratory's Genotype Promise

Terms Of Use

Additional Use Restrictions Apply

Licensing Information

Genotype: Del(5Limk1-Trim50)2Uta/+
involves: 129S7/SvEvBrd * C57BL/6J