Strain Name:

B6;129S7-Del(5Gtf2i-Limk1)1Uta/J

Stock Number:

023885

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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 proximal deletion (PD).

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)   18-MAR-14
Mating SystemHeterozygote x Wild-type         (Female x Male)   18-MAR-14
Specieslaboratory mouse
Generation?+pN1 (02-JUN-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 proximal deletion (PD).

PD mice lack a genomic segment between and including the Gtf2i to Limk1 genes. Their phenotype is associated with an increased sociability and acoustic startle response. Crosses with animals lacking genomic sequences corresponding to the distal portion of the WBS deletion region (see Stock No. 023888; also called DD) 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.

DD mice that also carry a knockout of the elastin (Eln) gene have cardiovascular abnormalities that are similar but distinct from those described in Eln heterozygous knockout mice. DD mice have generalized arteriopathy, hypertension, and cardiac hypertrophy, and these symptoms can be reversed by inhibiting NADPH-oxidase (NOX)-mediated oxidative stress, either genetically or pharmacologically.

Development
A genomic segment corresponding to the proximal 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, Gtf2i exons 32 and 33, and the Gtf2i 3'UTR were introduced to intron 32 of the Gtf2i locus. Limk1 exons 3 and 4, the 3' portion of the Hprt minigene, loxP site and puromycin resistance cassette were inserted into intron 2 of the Limk1 gene. The mutations were introduced to AB2.2 129S7/SvEvBrd-Hprt1b-m2-derived embryonic stem (ES) cells through homologous recombination. Recombined ES cells were transiently introduced to cre recombinase 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
   000664 C57BL/6J (approximate)
 
  Considerations for Choosing Controls

Phenotype

Phenotype Information

View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      assigned by genotype

Del(5Gtf2i-Limk1)1Uta/+

        involves: 129S7/SvEvBrd * C57BL/6J
  • 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)
    • in a direct social interaction test, mice are more active social than wild-type mice   (MGI Ref ID J:182796)
    • in a three chamber apparatus, mice spend more time in the social chamber compared with wild-type mice   (MGI Ref ID J:182796)
  • decreased aggression towards mice
    • in a tube test   (MGI Ref ID J:182796)
  • decreased exploration in new environment
    • in an open field test   (MGI Ref ID J:182796)
  • decreased thermal nociceptive threshold   (MGI Ref ID J:182796)
  • impaired coordination
    • mice do not walk on a rotarod as long as wild-type mice   (MGI Ref ID J:182796)
  • increased startle reflex   (MGI Ref ID J:182796)
  • nervous system phenotype
  • abnormal lateral ventricle morphology
  • decreased brain size
    • in female, but not male, mice   (MGI Ref ID J:182796)
  • decreased prepulse inhibition   (MGI Ref ID J:182796)
  • increased neuron number
    • mice exhibit an increase in the number of neurons in layer V of the somatosensory cortex compared with wild-type mice   (MGI Ref ID J:182796)
  • craniofacial phenotype
  • *normal* craniofacial phenotype
    • mice exhibit normal teeth morphology   (MGI Ref ID J:182796)
    • increased cranium length
      • longer skull in male mice than in wild-type mice   (MGI Ref ID J:182796)
      • however, female skull length is almost normal   (MGI Ref ID J:182796)
  • growth/size/body phenotype
  • decreased body weight
    • from P1 to P5 onward   (MGI Ref ID J:182796)
    • more severe in male mice than in female mice   (MGI Ref ID J:182796)
    • mice are more affected that mice carrying Del(5Limk1-Trim50)2Uta but less so than mice carrying Del(5Gtf2i-Limk1)1Uta Del(5Limk1-Trim50)2Uta   (MGI Ref ID J:182796)
  • postnatal growth retardation   (MGI Ref ID J:182796)
  • cardiovascular system phenotype
  • *normal* cardiovascular system phenotype
    • abdominal aortic wall motion is normal   (MGI Ref ID J:182796)
  • integument phenotype
  • decreased thermal nociceptive threshold   (MGI Ref ID J:182796)
  • skeleton phenotype
  • increased cranium length
    • longer skull in male mice than in wild-type mice   (MGI Ref ID J:182796)
    • however, female skull length is almost normal   (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

Sensorineural Research

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol Del(5Gtf2i-Limk1)1Uta
Allele Name deletion, Chr 5, Uta Francke 1
Allele Type Targeted
Common Name(s) PD;
Strain of Origin129S7/SvEvBrd-Hprt
Gene Symbol and Name Del(5Gtf2i-Limk1)1Uta, deletion, Chr 5, Uta Francke 1
Chromosome 5
Molecular Note Cre-mediated recombination of mice carrying Gtf2itm1Uta and Limk1tm2Uta removed all genomic sequence between the two alleles (including Gtf2i, Gtf2ird1, Clip2, Syna, Rfc2 Lat2, Eif4h and Limk1). [MGI Ref ID J:182796]

Genotyping

Genotyping Information

Genotyping Protocols

Del(5Gtf2i-Limk1)1Uta alternate2, Separated 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(5Gtf2i-Limk1)1Uta 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           AX18

Colony Maintenance

Breeding & HusbandryHeterozygotes are viable and fertile, but homozygotes are reported not to be.
Mating SystemWild-type x Heterozygote         (Female x Male)   18-MAR-14
Heterozygote x Wild-type         (Female x Male)   18-MAR-14

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls


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(5Gtf2i-Limk1)1Uta  
Price per Pair (US dollars $)Pair Genotype
$304.00Heterozygous for Del(5Gtf2i-Limk1)1Uta x Wild-type for Del(5Gtf2i-Limk1)1Uta  
$304.00Wild-type for Del(5Gtf2i-Limk1)1Uta x Heterozygous for Del(5Gtf2i-Limk1)1Uta  

Standard Supply

Repository-Live.
Repository-Live represents an exclusive set of over 1800 unique mouse models across a vast array of research areas. Breeding colonies provide mice for large and small orders and fluctuate in size depending on current research demand. If a strain is not immediately available, you will receive an estimated availability timeframe for your inquiry or order in 2-3 business days. Repository strains typically are delivered at 4 to 8 weeks of age. Requests for specific ages will be noted but not guaranteed and we do not accept age requests for breeder pairs. However, if cohorts of mice (5 or more of one gender) are needed at a specific age range for experiments, we will do our best to accommodate your age request.

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(5Gtf2i-Limk1)1Uta  
Price per Pair (US dollars $)Pair Genotype
$395.20Heterozygous for Del(5Gtf2i-Limk1)1Uta x Wild-type for Del(5Gtf2i-Limk1)1Uta  
$395.20Wild-type for Del(5Gtf2i-Limk1)1Uta x Heterozygous for Del(5Gtf2i-Limk1)1Uta  

Standard Supply

Repository-Live.
Repository-Live represents an exclusive set of over 1800 unique mouse models across a vast array of research areas. Breeding colonies provide mice for large and small orders and fluctuate in size depending on current research demand. If a strain is not immediately available, you will receive an estimated availability timeframe for your inquiry or order in 2-3 business days. Repository strains typically are delivered at 4 to 8 weeks of age. Requests for specific ages will be noted but not guaranteed and we do not accept age requests for breeder pairs. However, if cohorts of mice (5 or more of one gender) are needed at a specific age range for experiments, we will do our best to accommodate your age request.

View USA Canada and Mexico Pricing View International Pricing

Standard Supply

Repository-Live.
Repository-Live represents an exclusive set of over 1800 unique mouse models across a vast array of research areas. Breeding colonies provide mice for large and small orders and fluctuate in size depending on current research demand. If a strain is not immediately available, you will receive an estimated availability timeframe for your inquiry or order in 2-3 business days. Repository strains typically are delivered at 4 to 8 weeks of age. Requests for specific ages will be noted but not guaranteed and we do not accept age requests for breeder pairs. However, if cohorts of mice (5 or more of one gender) are needed at a specific age range for experiments, we will do our best to accommodate your age request.

Control Information

  Control
   Wild-type from the colony
   000664 C57BL/6J (approximate)
 
  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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