Strain Name:

B6129S-Del(7Slx1b-Sept1)4Aam/J

Stock Number:

013128

Order this mouse

Availability:

Repository- Live

Use Restrictions Apply, see Terms of Use
These mutant mice possess an engineered deletion spanning approximately 0.39 Mb on mouse Chromosome 7, a region that shares conserved synteny with the Autism spectrum disorders critical interval on human Chromosome 16. This mutant mouse may be useful in studying Autism and other associated disorders.

Description

Strain Information

Former Names B6;129S-Del(7Smg1-Aldoa)1Aam/J    (Changed: 09-AUG-10 )
B6;129S7-Del(7Smg1-Aldoa)1Aam/J    (Changed: 09-AUG-10 )
Type Deletion;
Additional information on Mice with Chromosomal Aberrations.
Type Mutant Stock; Targeted Mutation;
Additional information on Genetically Engineered and Mutant Mice.
Visit our online Nomenclature tutorial.
Mating SystemF1 x Heterozygote         (Female x Male)   13-OCT-11
Specieslaboratory mouse
GenerationF?+1N7 (26-NOV-14)
Generation Definitions
 
Donating InvestigatorDr. Alea A. Mills,   Cold Spring Harbor Laboratory

Description
These mutant mice possess an engineered deletion spanning approximately 0.39 Mb on mouse Chromosome 7. The region involved encompasses a chromosomal segment, between the GIY-YIG domain containing 2 (Giyd2) gene and the septin 1(Sept1) loci, that shares conserved synteny with the Autism spectrum disorders critical interval on human Chromosome 16 (the 16p11.2 region). Mice homozygous for the deletion are embryonic lethal. Mice carrying one copy of the deletion prove to be viable, but do exhibit some postnatal lethality. It can be expected that approximately half of df/+ mice will be lost between birth and weaning. These mice exhibit neuroanatomical and behavioral phenotypes reminiscent of human autism. This mutant mouse may be useful in studying Autism and other associated disorders.

(Mice bearing the reciprocal duplication are also available (see Stock No. 013129))

Development
Chromosome-engineering cassettes were inserted into mouse Chromosome 7 of 129S7/SvEvBrd-Hprt1b-m2-derived AB2.2 embryonic stem (ES) cells, bracketing a span of approximately 0.39 Mb between the GIY-YIG domain containing 2 (Giyd2) gene and the septin 1(Sept1) loci. The cassette placed at the proximal locus contained Giyd2, a puromycin resistance gene, a loxP site, a 5' portion of an hprt minigene and an agouti transgene. The cassette placed at the distal locus contained the Sept1 gene, a tyrosinase minigene, a 3' portion of an hprt minigene, a loxP site and neomycin resistance gene. Double-targeted ES cells were subjected to transient cre recombinase expression with subsequent selection of recombinants by using hypoxanthine aminopterin thymidine (HAT) media. Correctly targeted ES cells, containing one copy of Chromosome 7 with the targeted sequence deleted (df) and one copy with the targeted sequence duplicated (dp), were injected into C57BL/6J blastocysts and the resulting chimeric mice were mated to C57BL/6J mice. The resulting offspring were genotyped and maintained as two separate lines of df and dp mice. The df mice were mated to C57BL/6J mice for at least two generations. Males were then sent to The Jackson Laboratory Repository. Sperm from these males were frozen. Individual aliquots of the frozen sperm were used to establish df mice on a mixed B6129S genetic background (Stock No. 013128). A frozen sperm aliquot was used to fertilize B6129SF1/J oocytes (Stock No. 101043). The resulting df mice were subsequently bred to B6129SF1/J hybrid mice each generation.

Control Information

  Control
   Wild-type from the colony
   101043 B6129SF1/J
 
  Considerations for Choosing Controls

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI
- Characteristics of this human disease are associated with transgenes and other mutation types in the mouse.
Autism
View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      assigned by genotype

The following phenotype information is associated with a similar, but not exact match to this JAX® Mice strain.

Del(7Slx1b-Sept1)4Aam/+

        involves: 129S7/SvEvBrd * C57BL/6N
  • mortality/aging
  • partial postnatal lethality
    • some mice die between birth and weaning   (MGI Ref ID J:176335)
  • behavior/neurological phenotype
  • hyperactivity
    • mice exhibit higher distance traveled, time spent walking, and time spent lingering compared with control mice   (MGI Ref ID J:176335)
    • after habituation, mice exhibit a second burst of activity (walking and rearing) unlike control mice   (MGI Ref ID J:176335)
    • mice spend less time resting than control mice   (MGI Ref ID J:176335)
    • mice are more active in the dark and light phases compared with control mice   (MGI Ref ID J:176335)
    • mice exhibit a higher ratio of light to dark activity compared with control mice   (MGI Ref ID J:176335)
  • stereotypic behavior
    • mice exhibit extremely stereotypic ceiling-climbing unlike control mice with some mice becoming trapped on the ceiling for extensive periods   (MGI Ref ID J:176335)
  • nervous system phenotype
  • abnormal hypothalamus morphology
    • in the posterior, lateral regions compared with Dp(7Slx1b-Sept1)5Aam mice   (MGI Ref ID J:176335)
    • hypothalamus hyperplasia
      • in the lateral hypothalamus   (MGI Ref ID J:176335)
  • growth/size/body phenotype
  • decreased body size
    • prior to weaning but not as adults   (MGI Ref ID J:176335)

Del(7Slx1b-Sept1)4Aam/+

        involves: 129S7/SvEvBrd
  • mortality/aging
  • partial postnatal lethality
    • some mice die between birth and weaning   (MGI Ref ID J:176335)
View Research Applications

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

Developmental Biology Research
Embryonic Lethality (Homozygous)

Neurobiology Research
Neurodevelopmental Defects
      Autism

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol Del(7Slx1b-Sept1)4Aam
Allele Name deletion, Chr 7, Alea A Mills 4
Allele Type Targeted
Common Name(s) 16p11.2 df; Del(7)4Aam;
Strain of Origin129S7/SvEvBrd-Hprt
Gene Symbol and Name Del(7Slx1b-Sept1)4Aam, deletion, Chr 7, Alea A Mills 4
Chromosome 7
Molecular Note Chromosome-engineering cassettes were inserted into mouse Chromosome 7, bracketing a span of approximately 0.39 Mb between the SMG1 homolog, phosphatidylinositol 3-kinase-related kinase (Smg1) and the aldolase A, fructose-bisphosphate (Aldoa) loci. The cassette placed at the proximal locus contained Smg1, a puromycin resistance gene, a loxP site, a 3' portion of an hprt minigene and an agouti transgene. The cassette placed at the distal locus contained the Aldoa gene, a tyrosinase minigene, a 5' portion of an hprt minigene, a loxP site and neomycin resistance gene. Double-targeted ES cells were subjected to transient cre recombinase expression with subsequent selection of recombinants by using hypoxanthine aminopterin thymidine (HAT) media to delete the targeted region. [MGI Ref ID J:176335]

Genotyping

Genotyping Information

Genotyping Protocols

Del(7Slx1b-Sept1)1Aam-Alternate 1,

MELT



Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Selected Reference(s)

Horev G; Ellegood J; Lerch JP; Son YE; Muthuswamy L; Vogel H; Krieger AM; Buja A; Henkelman RM; Wigler M; Mills AA. 2011. Dosage-dependent phenotypes in models of 16p11.2 lesions found in autism. Proc Natl Acad Sci U S A :. [PubMed: 21969575]  [MGI Ref ID J:176335]

Additional References

Del(7Slx1b-Sept1)4Aam related

Nomura J; Takumi T. 2012. Animal models of psychiatric disorders that reflect human copy number variation. Neural Plast 2012:589524. [PubMed: 22900207]  [MGI Ref ID J:196805]

Portmann T; Yang M; Mao R; Panagiotakos G; Ellegood J; Dolen G; Bader PL; Grueter BA; Goold C; Fisher E; Clifford K; Rengarajan P; Kalikhman D; Loureiro D; Saw NL; Zhengqui Z; Miller MA; Lerch JP; Henkelman RM; Shamloo M; Malenka RC; Crawley JN; Dolmetsch RE. 2014. Behavioral abnormalities and circuit defects in the Basal Ganglia of a mouse model of 16p11.2 deletion syndrome. Cell Rep 7(4):1077-92. [PubMed: 24794428]  [MGI Ref ID J:210018]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

Room Number           FGB27

Colony Maintenance

Breeding & HusbandryWhen maintaining a live colony, heterozygous mice are bred to B6129SF1/J mice (Stock No. 101043) each generation. On a B6;129 mixed genetic background, mice homozygous for the deletion are embryonic lethal. Mice carrying one copy of the deletion prove to be viable, but do exhibit some postnatal lethality. It can be expected that approximately half of df/+ mice will be lost between birth and weaning.
Mating SystemF1 x Heterozygote         (Female x Male)   13-OCT-11
Diet Information LabDiet® 5K52/5K67

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 $239.00Female or MaleHeterozygous for Del(7Slx1b-Sept1)4Aam  
Price per Pair (US dollars $)Pair Genotype
$278.25B6129SF1/J (101043) x Heterozygous for Del(7Slx1b-Sept1)4Aam  
$278.25Heterozygous for Del(7Slx1b-Sept1)4Aam x B6129SF1/J (101043)  

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 $310.70Female or MaleHeterozygous for Del(7Slx1b-Sept1)4Aam  
Price per Pair (US dollars $)Pair Genotype
$361.80B6129SF1/J (101043) x Heterozygous for Del(7Slx1b-Sept1)4Aam  
$361.80Heterozygous for Del(7Slx1b-Sept1)4Aam x B6129SF1/J (101043)  

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
   101043 B6129SF1/J
 
  Considerations for Choosing Controls
  Control Pricing Information for Genetically Engineered Mutant Strains.
 

Payment Terms and Conditions

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.


See Terms of Use tab for General Terms and Conditions


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.
Ordering Information
JAX® Mice
Surgical and Preconditioning Services
JAX® Services
Customer Services and Support
Tel: 1-800-422-6423 or 1-207-288-5845
Fax: 1-207-288-6150
Technical Support Email Form

Terms of Use

Terms of Use


General Terms and Conditions


For Licensing and Use Restrictions view the link(s) below:
- Use of MICE by companies or for-profit entities requires a license.

Contact information

General inquiries regarding Terms of Use

Contracts Administration

phone:207-288-6470

JAX® Mice, Products & Services Conditions of Use

"MICE" means mouse strains, their progeny derived by inbreeding or crossbreeding, unmodified derivatives from mouse strains or their progeny supplied by The Jackson Laboratory ("JACKSON"). "PRODUCTS" means biological materials supplied by JACKSON, and their derivatives. "RECIPIENT" means each recipient of MICE, PRODUCTS, or services provided by JACKSON including each institution, its employees and other researchers under its control. MICE or PRODUCTS shall not be: (i) used for any purpose other than the internal research, (ii) sold or otherwise provided to any third party for any use, or (iii) provided to any agent or other third party to provide breeding or other services. Acceptance of MICE or PRODUCTS from JACKSON shall be deemed as agreement by RECIPIENT to these conditions, and departure from these conditions requires JACKSON's prior written authorization.

No Warranty

MICE, PRODUCTS AND SERVICES ARE PROVIDED “AS IS”. JACKSON EXTENDS NO WARRANTIES OF ANY KIND, EITHER EXPRESS, IMPLIED, OR STATUTORY, WITH RESPECT TO MICE, PRODUCTS OR SERVICES, INCLUDING ANY IMPLIED WARRANTY OF MERCHANTABILITY OR FITNESS FOR A PARTICULAR PURPOSE, OR ANY WARRANTY OF NON-INFRINGEMENT OF ANY PATENT, TRADEMARK, OR OTHER INTELLECTUAL PROPERTY RIGHTS.

In case of dissatisfaction for a valid reason and claimed in writing by a purchaser within ninety (90) days of receipt of mice, products or services, JACKSON will, at its option, provide credit or replacement for the mice or product received or the services provided.

No Liability

In no event shall JACKSON, its trustees, directors, officers, employees, and affiliates be liable for any causes of action or damages, including any direct, indirect, special, or consequential damages, arising out of the provision of MICE, PRODUCTS or services, including economic damage or injury to property and lost profits, and including any damage arising from acts or negligence on the part of JACKSON, its agents or employees. Unless prohibited by law, in purchasing or receiving MICE, PRODUCTS or services from JACKSON, purchaser or recipient, or any party claiming by or through them, expressly releases and discharges JACKSON from all such causes of action or damages, and further agrees to defend and indemnify JACKSON from any costs or damages arising out of any third party claims.

MICE and PRODUCTS are to be used in a safe manner and in accordance with all applicable governmental rules and regulations.

The foregoing represents the General Terms and Conditions applicable to JACKSON’s MICE, PRODUCTS or services. In addition, special terms and conditions of sale of certain MICE, PRODUCTS or services may be set forth separately in JACKSON web pages, catalogs, price lists, contracts, and/or other documents, and these special terms and conditions shall also govern the sale of these MICE, PRODUCTS and services by JACKSON, and by its licensees and distributors.

Acceptance of delivery of MICE, PRODUCTS or services shall be deemed agreement to these terms and conditions. No purchase order or other document transmitted by purchaser or recipient that may modify the terms and conditions hereof, shall be in any way binding on JACKSON, and instead the terms and conditions set forth herein, including any special terms and conditions set forth separately, shall govern the sale of MICE, PRODUCTS or services by JACKSON.


(6.8)