Strain Name:
B6.129X1-Chrna4tm1Jbou/Mmucd
Stock Number:
030293-UCD
Citation ID:
RRID:MMRRC_030293-UCD
Other Names:
ADNFLE S252F, B6.129X1-Chrna4tm1Jbou/Mmcd

Strain Information

Chrna4tm1Jbou
Name: cholinergic receptor, nicotinic, alpha polypeptide 4; targeted mutation 1, Jim Boulter
Synonyms: Chrna4S252F
Type: Allele
Species: Mus musculus (mouse)
Chromosome: 2
Alteration at locus: Knock-In
Chrna4
Name: cholinergic receptor, nicotinic, alpha polypeptide 4
Synonyms: Acra-4, alpha4 nAChR, alpha4-nAChR, Acra4, a4 nicotinic receptor
Type: Gene
Species: Mouse
Chromosome: 2
Alteration at locus: Knock-In
NCBI: 11438
HGNC: HGNC:1958
Homologene: 592
Genetic Alterations
Introduced a Ser to Phe amino acid substitution into the second transmembrane domain (located in exon 5) of the nicotinic acetylcholine receptor subunit alpha 4.
Genotype Determination
ES Cell Line
R1 derived from (129X1/SvJ x 129S1/Sv)F1-Kitl+
Phenotype
Homozygous: Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). Homozygous ADNFLE S252F/wt mice possess abnormal cortical EEG patterns and exhibit recurrent spontaneous seizures.

Heterozygous: Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). Heterozygous ADNFLE S252F/S252F mice possess abnormal cortical EEG patterns and exhibit recurrent spontaneous seizures.
Mammalian Phenotype Terms
Allelic Composition: Chrna4tm1Jbou/Chrna4tm1Jbou (Genetic Background: either: (involves: 129S4/SvJae * 129X1/SvJ * C57BL/6J) or (involves: 129X1/SvJ * C57BL/6J) )

Allelic Composition: Chrna4tm1Jbou/Chrna4+ (Genetic Background: either: (involves: 129S4/SvJae * 129X1/SvJ * C57BL/6J) or (involves: 129X1/SvJ * C57BL/6J) )

MeSH Terms
  • Animals
  • Disease Models, Animal
  • Electrophysiology
  • Epilepsy, Frontal Lobe/genetics
  • Epilepsy, Frontal Lobe/metabolism
  • Humans
  • Kinetics
  • Mice
  • Mice, Transgenic
  • Nicotine/metabolism
  • Patch-Clamp Techniques
  • Receptors, Nicotinic/genetics
  • Receptors, Nicotinic/metabolism
  • Seizures/genetics
  • Seizures/metabolism
  • gamma-Aminobutyric Acid/biosynthesis
Strain Development
Founder male mouse mated to female C57BL/6J. Continuous backcrossing of heterozygous progeny to wild type C57BL/6J (both male and female) through N12 (at least).
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@ucdavis.edu. Older strains may not have this information.
  • Models for Human Disease
  • Neurobiology
Donor
Jim Boulter, Ph.D., University of California, Los Angeles
Primary Reference
Klaassen A, Glykys J, Maguire J, Labarca C, Mody I, Boulter J. Seizures and enhanced cortical GABAergic inhibition in two mouse models of human autosomal dominant nocturnal frontal lobe epilepsy. Proc Natl Acad Sci U S A. 2006 Dec 12;103(50):19152-7. Epub 2006 Dec 4. (Medline PMID: 17146052)

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@ucdavis.edu.

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@ucdavis.edu for more information.

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.

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
030293-UCD-EMBRYO Cryo-preserved embryos $1,038.00 / $1,545.65
Non-Profit / For-Profit
Aliquot Approximate quantity2 : 20-40 embryos / aliquot
030293-UCD-SPERM Cryo-preserved spermatozoa $546.25 / $869.88
Non-Profit / For-Profit
Aliquot Approximate quantity3
030293-UCD-RESUS Litter recovered from cryo-archive $4,044.00 / $7,650.23
Non-Profit / For-Profit
Litter Recovered litter4; additional fees for any special requests.

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.