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Strain Name:
C57BL/6NJ-Kcnt1em1Bryd/Mmmh
Stock Number:
075727-MU
Citation ID:
RRID:MMRRC_075727-MU
Other Names:
B6-Kcnt1 em1 G269S Bryd

Strain Information

Kcnt1
Name: potassium channel, subfamily T, member 1
Synonyms: slo2, Slack, C030030G16Rik
Type: Gene
Species: Mouse
Chromosome: 2
NCBI: 227632
Homologene: 11055
Genetic Alterations
A novel mouse model was engineered using CRISPR/Cas9 to introduce a knock-in mutation (G269S), corresponding to the human KCNT1 G288S variant (c.862G>A), a missense mutation causing a glycine-to-serine substitution in the channel pore. This variant was selected because it uniquely affects the KCNT1 channel pore, unlike most mutations that cluster in the C-terminal or transmembrane regions, and is associated with multiple epilepsy forms. The mouse model accurately recapitulates the human p.Gly288Ser substitution at amino acid 269.
ES Cell Line
Not applicable
Phenotype
Kcnt1+/G269S heterozygous neurons exhibited markedly elevated network bursting and hypersynchrony relative to Kcnt1+/+ wild-type neurons, whereas Kcnt1G269S/G269S homozygous neurons developed excessive, excitotoxic bursting by 28 days in vitro. Behavioral evaluations of Kcnt1+/G269S mice revealed intact gross motor function but deficits in coordination, alongside irregular breathing patterns and increased sleep apneas. These mice also demonstrated a pronounced susceptibility to thermally induced seizures during early development. Collectively, these results underscore the G269S mutation’s role in enhancing neuronal excitability and driving epilepsy-associated phenotypes in this model.
Strain Development
CRISPR/Cas9 genome editing was used to introduce a missense mutation in Kcnt1 exon 11 of C57BL/6NJ mice, replacing the wild-type GGG codon with AGC to substitute glycine with serine at amino acid 269, recapitulating the human G288S variant. The mutation was knocked in via electroporation of a single-stranded oligodeoxynucleotide (ssODN) repair template into B6 embryos, and mutant animals were identified using PCR-based genotyping. The resulting Kcnt1G269S line was established and maintained by continuous backcrossing to C57BL/6NJ.
Suggested Control Mice
wild type littermates
MMRRC Genetic QC Summary
The MMRRC Centers have developed a genetic QC pipeline using MiniMUGA array genotyping to provide additional information on strain backgrounds for MMRRC congenic and inbred strains. For more information on when data may be available, or to request genotyping for a strain of interest, please contact mmrrc@missouri.edu. Older strains may not have this information.
  • Models for Human Disease
  • Neurobiology
Donor
Elizabeth Bryda, Ph.D., University of Missouri - Columbia.
Primary Reference
In preparation, submitted, or in press

Colony and Husbandry Information

Colony Surveillance Program and Current Health Reports

Mice recovered from a cryo-archive will have health surveillance performed on recipient females. Health reports will be provided prior to shipment. If you require additional health status information, please email mmrrc@missouri.edu.
Coat Color
Black
Eye
Black
MMRRC Breeding System
Backcross
Generation
N/A
Overall Breeding Performance
Good
Viability and Fertility: Female Male Comments
Homozygotes are viable: Yes Yes
Homozygotes are fertile: Yes Yes
Heterozygotes are fertile: Yes Yes
Age Reproductive Decline: 10 to 12 months Greater than 12 months
Bred to Homozygosity
No
Average litter size
4 to 6
Recommended wean age
3 Weeks
Average Pups Weaned
4 to 6

Order Request Information

Limited quantities of breeder mice (recovered litter) are available from a cryoarchive; recovered litter usually available to ship in 3 to 4 months.

Cryopreserved material may be available upon request, please inquire to mmrrc@missouri.edu for more information.

A Commercial License Agreement from the Donor is required for for-profit entities to use this strain. For more information, please contact Chase Bunger.

Distribution of this strain requires submission of the MMRRC Conditions of Use (COU). A link to the COU web form will be provided via email after an order has been placed; the form should be completed then or the email forwarded to your institutional official for completion.

A Commercial License Agreement from the Donor is required for for-profit entities to use this strain. For more information, please contact Chase Bunger

Additional charges may apply for any special requests. Shipping costs are in addition to the basic distribution/resuscitation fees. Information on shipping costs and any additional charges will be provided by the supplying MMRRC facility.

Click button to Request this one strain. (Use the MMRRC Catalog Search to request more than one strain.)
MMRRC Item # Description Distribution Fee / Unit (US $)
*Shipping & Handling not included*
Units Notes
075727-MU-SPERM Cryo-preserved spermatozoa $437.00 / $817.00
Non-Profit / For-Profit
Aliquot Approximate quantity3
075727-MU-RESUS Litter recovered from cryo-archive $2,624.00 / $5,340.00
Non-Profit / For-Profit
Litter Recovered litter4; additional fees for any special requests.
Cryopreserved material may be available upon request, please inquire to mmrrc@missouri.edu for more information.

Some MMRRC strains were submitted by the donor as cryopreserved germplasm, and because these strains were not cryopreserved by the MMRRC, we have not assessed the quality, nor genotype, of this material. Our expertise in reviving mice from various qualities of frozen sperm and embryos, using methods like IVF and ICSI, gives us confidence in successful recoveries in most cases. However, due to the uncertain quality of these samples, we'll limit revival attempts to two per order. Additional attempts are available for a fee, on top of standard charges, if requested. It's important to note that some strains may lack the expected mutation, so we can't assure successful order fulfillment until we attempt to revive the strain.

1 The distribution fee covers the expense of rederiving mice from a live mouse; you will receive the resulting litter. The litter will contain at minimum one mutant carrier; the actual number of animals and the gender and genotype ratios will vary. (Typically, multiple breeder pairs can be established from the recovered litter.) Prior to shipment, the MMRRC will provide information about the animals recovered. If you anticipate or find that you need to request specific genotypes, genders or quantities of mice in excess of what is likely from a resuscitated litter, you may discuss available options and pricing with the supplying MMRRC facility.

2 An aliquot contains a sufficient number of embryos (in one or more vials or straws and based on the transfer success rate of the MMRRC facility) to transfer into one to three recipients. The MMRRC makes no guarantee concerning embryo transfer success experienced in the recipient investigator's laboratory. Neither gender nor genotype ratios are guaranteed.

3 An aliquot is one straw or vial with sufficient sperm to recover at least one litter of mice, as per provided protocols, when performed at the MMRRC facility. The MMRRC makes no guarantee concerning the success of these procedures when performed outside the MMRRC facilities.

4 The distribution fee covers the expense of resuscitating mice from the cryo-archive; you will receive the resulting litter. The litter will contain at minimum one mutant carrier; the actual number of animals and the gender and genotype ratios will vary. (Typically, multiple breeder pairs can be established from the recovered litter.) Prior to shipment, the MMRRC will provide information about the animals recovered. If you anticipate or find that you need to request specific genotypes, genders or quantities of mice in excess of what is likely from a resuscitated litter, you may discuss available options and pricing with the supplying MMRRC facility.

To request material from the MMRRC: Please fill out our on-line request form (accessible from the catalog search results page, or click the Request this Strain button in the fees section). If you have questions or need assistance completing this form, you may call Customer Service at (800) 910-2291 (in USA or Canada) or (530) 757-5710 (international calls). Before you call, please have with you: the MMRRC item number, quantity needed, Bill-to and Ship-to contact information.