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.
Dr. Alea A. Mills, Cold Spring Harbor Laboratory
Genetic Background | Generation |
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F?+1N18
|
Allele Type | Gene Symbol | Gene Name |
---|---|---|
Targeted (Null/Knockout) | Del(7Slx1b-Sept1)4Aam | deletion, Chr 7, Alea A Mills 4 |
Starting at:
$278.00 Domestic price for female |
317.17 Domestic price for breeder pair |
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))
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.
Allele Name | deletion, Chr 7, Alea A Mills 4 |
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Allele Type | Targeted (Null/Knockout) |
Allele Synonym(s) | 16p11.2 df; Del(7)4Aam; Del4Aam |
Gene Symbol and Name | Del(7Slx1b-Sept1)4Aam, deletion, Chr 7, Alea A Mills 4 |
Gene Synonym(s) | |
Strain of Origin | 129S7/SvEvBrd-Hprtb-m2 |
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. |
When 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.
When using the 16p11.2df mouse strain in a publication, please cite the originating article(s) and include JAX stock #013128 in your Materials and Methods section.
Service/Product | Description | Price |
---|---|---|
Heterozygous or wildtype for Del(7Slx1b-Sept1)1Aam |
Frozen Mouse Embryo | B6129S-Del(7Slx1b-Sept1)4Aam/J | $2595.00 |
Frozen Mouse Embryo | B6129S-Del(7Slx1b-Sept1)4Aam/J | $2595.00 |
Frozen Mouse Embryo | B6129S-Del(7Slx1b-Sept1)4Aam/J | $3373.50 |
Frozen Mouse Embryo | B6129S-Del(7Slx1b-Sept1)4Aam/J | $3373.50 |
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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. 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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