Overview

Also Known As: 16p11.2df

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.

Donating Investigator

Dr. Alea A. Mills, Cold Spring Harbor Laboratory

Genetic overview

Genetic Background	Generation
	F?+1N17 (2019-10-04 00:00:00)

Del(7Slx1b-Sept1)4Aam

Allele Type	Gene Symbol	Gene Name
Targeted (Null/Knockout)	Del(7Slx1b-Sept1)4Aam	deletion, Chr 7, Alea A Mills 4

View Genetics

Research Applications

Neurobiology Research
Mouse/Human Gene Homologs
Developmental Biology Research

View All Research Applications

Base Price

Starting at:

$278.00 Domestic price for female

317.17 Domestic price for breeder pair

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Details

Detailed 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-Hprt1^b-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 Suggestions

Wild-type from the colony

Approximate Controls

Additional Information

Considerations for Choosing Controls

Selected References

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 108(41):17076-81PubMed: 21969575 MGI: J:176335

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Genetics

Del(7Slx1b-Sept1)4Aam

Allele Symbol: Del(7Slx1b-Sept1)4Aam

Allele Name	deletion, Chr 7, Alea A Mills 4
Allele Type	Targeted (Null/Knockout)
Allele Synonym(s)	Del(7Slx1b-Sept1)4Aam; deletion, Chr 7, Alea A Mills 4
Gene Symbol and Name	Del(7Slx1b-Sept1)4Aam, deletion, Chr 7, Alea A Mills 4
Gene Synonym(s)
Strain of Origin	129S7/SvEvBrd-Hprt^b-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.

Disease/Phenotype

Disease Terms

Characteristics of this human disease are associated with transgenes and other mutation types in the mouse.

autism spectrum disorder

Research Areas By Genotype

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

Neurobiology Research
- Neurodevelopmental Defects
  - Autism
Mouse/Human Gene Homologs
Developmental Biology Research
- Embryonic Lethality (Homozygous)

Mammalian Phenotype Terms by Genotype

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

Genotype: Del(7Slx1b-Sept1)4Aam/+
involves: 129S7/SvEvBrd * C57BL/6N

behavior/neurological phenotype

hyperactivity
- after habituation, mice exhibit a second burst of activity (walking and rearing) unlike control mice
- mice are more active in the dark and light phases compared with control mice
- mice exhibit a higher ratio of light to dark activity compared with control mice
- mice exhibit higher distance traveled, time spent walking, and time spent lingering compared with control mice
- mice spend less time resting than control mice

stereotypic behavior
- mice exhibit extremely stereotypic ceiling-climbing unlike control mice with some mice becoming trapped on the ceiling for extensive periods

growth/size/body region phenotype

decreased body size
- prior to weaning but not as adults

mortality/aging

postnatal lethality, incomplete penetrance
- some mice die between birth and weaning

nervous system phenotype

abnormal hypothalamus morphology
- in the posterior, lateral regions compared with Dp(7Slx1b-Sept1)5Aam mice

hypothalamus hyperplasia
- in the lateral hypothalamus

Genotype: Del(7Slx1b-Sept1)4Aam/+
involves: 129S7/SvEvBrd

mortality/aging

postnatal lethality, incomplete penetrance
- some mice die between birth and weaning

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

Genotype: Del(7Slx1b-Sept1)4Aam/0
B6129S-Del(7Slx1b-Sept1)4Aam/J

behavior/neurological phenotype

abnormal object recognition memory
- Normal - however, exploration time during habituation phase is not different from wild-type mice
- in a novel object recognition task, mice are impaired in ability to discriminate between novel and familiar objects, indicating recognition memory deficits

increased anxiety-related response
- in the elevated plus maze, mice spend less time exploring the open arms, indicating anxiety-like behavior
- in the open field, mice show a decrease in the frequency of entering the center, the middle, and outer parameter of the open field chamber during the first 5 minutes of exploration and a 35% decrease in the total distance traveled

cellular phenotype

decreased radial glial cell number
- reduction in the number of Pax6+ radial glia

increased neuronal precursor proliferation
- increase in the number of proliferating progenitors at early and mid-neurogenesis (E12.5 and E14.5) in both the ventricular zone and subventricular zone

growth/size/body region phenotype

decreased body weight
- 20% reduction in body weight at P2, P10, and P120

nervous system phenotype

abnormal brain interneuron morphology
- 30% decrease in calretinin-positive interneurons in the upper layers of the cortex

abnormal cerebral cortex morphology
- reduced cortical area, specifically anteroposterior length and cortical length at P2 and p10

abnormal nervous system development
- mice show a 20% decrease in the frequency of Brn1+ neurons generated at E14.5
- mice show enhanced neuronal progenitor proliferation and premature cell cycle exit, resulting in premature depletion of progenitor pools, and altering the number and frequency of neurons ultimately populating cortical lamina
- progenitors in the telencephalon show premature cell cycle exit during mid-neurogenesis

abnormal neuronal precursor cell number
- generation and number of Tbr2+ intermediate progenitor cells are decreased
- mice exhibit a decrease in basal progenitor number and generation, resulting in premature progenitor pool depletion
- the number of Pax6+Tbr2+ progenitors is reduced by 40% and the number of transitioning Pax6+Tbr2+ progenitors is reduced
- the number of Tbr2+ intermediate progenitor cells in the cortical proliferation zones is reduced by nearly 20%

decreased brain size
- modest reduction in brain size during early postnatal development, with a 7% difference by P10, which persists into adulthood

decreased brain weight

decreased cerebral cortex pyramidal cell number
- 20-30% decrease in upper layer cortical projection neurons

decreased radial glial cell number
- reduction in the number of Pax6+ radial glia

increased cerebral cortex pyramidal cell number
- 11% increase in layer VI corticothalamic Tbr1+ projection neurons

increased neuronal precursor proliferation
- increase in the number of proliferating progenitors at early and mid-neurogenesis (E12.5 and E14.5) in both the ventricular zone and subventricular zone

References

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 108(41):17076-81PubMed: 21969575 MGI: J:176335

Additional - Del(7Slx1b-Sept1)4Aam related

Technical Support

Contact Technical Support

Genotyping Protocols
- Probe:Del(7Slx1b-Sept1)1Aam Probe
- End Point Analysis:Disc1-EP
- Standard PCR:Del(7Slx1b-Sept1)1Aam
- Genotyping resources and troubleshooting
Dietary Information
- LabDiet® 5K52 formulation (6% fat)
Breeding Considerations

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.
- Additional Breeding and Husbandry Support
Mating System
- F1 x Heterozygote
Citation
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.

Animal Health Reports

Facility Barrier Level Descriptions

FGB29 (Standard)

Pricing & Availability

Available

Domestic
International

Live Mouse

Age

Genotype

Price

weeks

Breeder Pair

Sex

Genotype

Price

Female
Male

Cryorecovery - Pricing

Service	Genotype	Price
	Heterozygous or wildtype for Del(7Slx1b-Sept1)1Aam

We will fulfill your order by providing at least two carriers for each strain ordered. The total number, sex, and genotypes provided will vary, although typically 8 or more animals are provided. Please check genotypes which will be recovered. While the genotypes of all animals produced will be communicated to you prior to scheduling shipment, the genotypes of animals provided may not reflect the mating scheme and genotypes described in the strain description. Animals are typically ready to ship in 11-14 weeks. If a second recovery is required to produce the minimum number of animals, then delivery time would increase to approximately 25 weeks. If we fail to produce animals of the correct genotype, you will not be charged. We cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.

Cryorecovery to establish a Dedicated Supply for greater quantities of mice. Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation.

Related Products and Services

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.

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Also Known As: 16p11.2df

Donating Investigator

Genetic overview

Research Applications

Base Price

Detailed Description

Development

Control Suggestions

Approximate Controls

Additional Information

Selected References

Del(7Slx1b-Sept1)4Aam

Allele Symbol: Del(7Slx1b-Sept1)4Aam

Disease Terms

Characteristics of this human disease are associated with transgenes and other mutation types in the mouse.

Research Areas By Genotype

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

Mammalian Phenotype Terms by Genotype

Genotype: Del(7Slx1b-Sept1)4Aam/+involves: 129S7/SvEvBrd * C57BL/6N

behavior/neurological phenotype

growth/size/body region phenotype

mortality/aging

nervous system phenotype

Genotype: Del(7Slx1b-Sept1)4Aam/+involves: 129S7/SvEvBrd

mortality/aging

Genotype: Del(7Slx1b-Sept1)4Aam/0B6129S-Del(7Slx1b-Sept1)4Aam/J

behavior/neurological phenotype

cellular phenotype

growth/size/body region phenotype

nervous system phenotype

References

Additional - Del(7Slx1b-Sept1)4Aam related

Genotyping Protocols

Dietary Information

Breeding Considerations

Mating System

Citation

Animal Health Reports

Live Mouse

Breeder Pair

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

JAX® Mice, Products & Services Conditions of Use

No Warranty

Credit for PRODUCTS or SERVICES

Animal Care and Use for SERVICES

No Liability

Genotype: Del(7Slx1b-Sept1)4Aam/+
involves: 129S7/SvEvBrd * C57BL/6N

Genotype: Del(7Slx1b-Sept1)4Aam/+
involves: 129S7/SvEvBrd

Genotype: Del(7Slx1b-Sept1)4Aam/0
B6129S-Del(7Slx1b-Sept1)4Aam/J