Strain Detail Sheet

Strain Name    :

B6.129X1-Chrna4tm1Jbou/Mmucd

Stock Number :

030293-UCD

Other Names   :

ADNFLE S252F, B6.129X1-Chrna4tm1Jbou/Mmcd

Gene Information

Gene Details [Including genotyping protocols]

(provided by MGI)
Target: Chrna4tm1Jbou
Name: targeted mutation 1, Jim Boulter
Alteration at locus: Knock-In
Target: Chrna4
Name: cholinergic receptor, nicotinic, alpha polypeptide 4
Chromosome: 2
Alteration at locus: Knock-In

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

Strain Description [Including phenotype, strain background, strain development and suggested control mice]

Phenotype

Homozygous phenotype: Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). Homozygous ADNFLE S252F/wt mice possess abnormal cortical EEG patterns and exhibit recurrent spontaneous seizures.

Heterozygous phenotype: 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:(provided by MGI)      Extend all MPTs
      assigned by genotype

The following phenotype information may relate to one or more alleles on a genetic background differing from this MMRRC strain.
Chrna4tm1Jbou/Chrna4+
        either: (involves: 129S4/SvJae * 129X1/SvJ * C57BL/6J) or (involves: 129X1/SvJ * C57BL/6J)
  • behavior/neurological phenotype
    • behavioral arrest (MGI Ref ID J:118273)
      • observed during seizures
    • seizures (MGI Ref ID J:118273)
      • mice exhibit spontaneous recurrent seizures, ranging from 1-5s of behavioral arrest to extended (2-60 seconds) of rhythmic jerking movements of extremities, with loss of balance and falling over
      • clonic seizures (MGI Ref ID J:118273)
  • nervous system phenotype
    • abnormal nervous system physiology (MGI Ref ID J:118273)
      • abnormal brain wave pattern (MGI Ref ID J:118273)
        • mutants show abnormal EEG activity during seizure episodes, such as repetitive discharges with paroxysmal onset and sudden termination with asymmetric rhythm patterns; this is observed for 22% of a 4-hour recording period
      • abnormal inhibitory postsynaptic currents (MGI Ref ID J:118273)
        • frequency and amplitude of spontaneous IPSCs are increased in pyramidal cells with application of nicotine; mean inhibitory current is increased 23.4-fold with nicotine treatment vs 2.5-fold in wild-type cells
      • seizures (MGI Ref ID J:118273)
        • mice exhibit spontaneous recurrent seizures, ranging from 1-5s of behavioral arrest to extended (2-60 seconds) of rhythmic jerking movements of extremities, with loss of balance and falling over
        • clonic seizures (MGI Ref ID J:118273)
Chrna4tm1Jbou/Chrna4tm1Jbou
        either: (involves: 129S4/SvJae * 129X1/SvJ * C57BL/6J) or (involves: 129X1/SvJ * C57BL/6J)
  • behavior/neurological phenotype
    • behavioral arrest (MGI Ref ID J:118273)
      • observed during seizures
    • seizures (MGI Ref ID J:118273)
      • mice exhibit spontaneous recurrent seizures, ranging from 1-5s of behavioral arrest to extended (2-60 seconds) of rhythmic jerking movements of extremities, with loss of balance and falling over
      • clonic seizures (MGI Ref ID J:118273)
  • nervous system phenotype
    • abnormal nervous system physiology (MGI Ref ID J:118273)
      • mutants show abnormal EEG activity during seizure episodes, such as repetitive discharges with paroxysmal onset and sudden termination with asymmetric rhythm patterns; this is observed for 21.5% of a 4-hour recording period
      • abnormal brain wave pattern (MGI Ref ID J:118273)
        • mutants show abnormal EEG activity during seizure episodes, such as repetitive discharges with paroxysmal onset and sudden termination with asymmetric rhythm patterns; this is observed for 21.5% of a 4-hour recording period
      • seizures (MGI Ref ID J:118273)
        • mice exhibit spontaneous recurrent seizures, ranging from 1-5s of behavioral arrest to extended (2-60 seconds) of rhythmic jerking movements of extremities, with loss of balance and falling over
        • clonic seizures (MGI Ref ID J:118273)

Strain of Origin: 129X1/SvJ

Strain genetic background: C57BL/6

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

Research Applications

  • Models for Human Disease
  • Neurobiology

Strain Origin

Donor: Jim Boulter, Ph.D., UCLA

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

Special Considerations

None

Health Status Report

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

Availability Level

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

Conditions of Distribution [Including applicable technology transfer agreements]

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.

Fees

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 $)
Units Notes
030293-UCD-RESUSLitter recovered from cryo-archive
$2,022.00 / $4,109.00
Non-Profit / For-Profit
Litter Recovered litter1; additional fees for any special requests.
030293-UCD-SPERMCryo-preserved spermatozoa
$437.00 / $817.00
Non-Profit / For-Profit
Aliquot Approximate quantity.2
030293-UCD-EMBRYOCryo-preserved embryos
$1,038.00 / $2,621.00
Non-Profit / For-Profit
Aliquot Approximate quantity3: 20-40 embryos / aliquot

1 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.

2 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.

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

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 above). 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.



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.



The MMRRC is a collaborative effort, funded by grants from DPCPSI of the NIH.

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