Overview

Also Known As:Nmf134

These mice carry an ENU-induced mutation characterized by a low threshold to electroconvulsive clonic seizures.

The Jackson Laboratory cannot guarantee that cryorecovery of strains from the discontinued NIH-funded Neuroscience Mutagenesis Facility (NMF) will be successful or that the anticipated phenotype or genotype will be obtained. The cryorecovery fee for this effort will not be refunded or prorated if the recovery is unsuccessful or is in any way unsatisfactory. Genotyping will be the responsibility of the Purchaser.

Genetic overview

Genetic Background	Generation

Kcnq2^Nmf134

Allele Type	Gene Symbol	Gene Name
Chemically induced (ENU)	Kcnq2	potassium voltage-gated channel, subfamily Q, member 2

Cdh23^ahl

Allele Type	Gene Symbol	Gene Name
Spontaneous	Cdh23	cadherin 23 (otocadherin)

View Genetics

Research Applications

Neurobiology Research
Sensorineural Research

View All Research Applications

Base Price

Starting at:

$2,854.50 Domestic price Cryo Recovery

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Details

Important Note

The C57BL/6J background strain is homozygous for the age related hearing loss mutation Cdh23^ahl, which on this background causes progressive hearing loss with onset after 10 months of age.

Detailed Description

The mutants exhibit a low threshold to electroconvulsive clonic seizures, i.e. when stimulated transcorneally with the CC3 for minimal seizures in C57BL/6J mice (6.5 mA females, or 8.0 mA males), the majority responds not with minimal, but with intense, seizures. Therefore, NMF134 mutants might be useful for studying neurobiological mechanisms related to epilepsy.

This seizure phenotype was mapped as a binary dominant trait in 17 affected and 24 unaffected (C57BL/6J-Nmf134 x BALB/cByJ)F1 X BALB/cByJ N2 backcross mice. The apparent molecular interval was D2Mit148 - 2.5 cM - (Nmf134, D2Frk1=Kcnq2), with a peak LOD score of 4.2 at D2Frk1. Nmf134 is presently examined for mutations in Kcnq2.

Standard pathology work-up on two mutants that died during ECT testing (42 days of age) revealed no abnormalities; standard pathology performed on two additional mutants (68 days of age) that survived ECT testing also showed no abnormalities.

Development

This phenotypic deviant was generated by ethylnitrosourea (ENU) mutagenesis in C57BL/6J males (Stock No. 000664), in the Neuroscience Mutagenesis facility at The Jackson Laboratory. Mutagenized males were crossed to C57BL/6J females; G3 descendants of the mutagenized males were selected for neurological impairment.

Control Suggestions

Unaffected littermates of affected mice

Additional Information

Considerations for Choosing Controls

Genetics

Kcnq2^Nmf134

Allele Symbol: Kcnq2^Nmf134

Allele Name	neuroscience mutagenesis facility, 134
Allele Type	Chemically induced (ENU)
Allele Synonym(s)	Kcnq2^V182M
Gene Symbol and Name	Kcnq2, potassium voltage-gated channel, subfamily Q, member 2
Gene Synonym(s)
Strain of Origin	C57BL/6J
Chromosome	2
Molecular Note	A G-to-T transversion mutation in codon 182 results in the substitution of methionine for valine at this highly conserved position in the encoded protein.

Cdh23^ahl

Allele Symbol: Cdh23^ahl

Allele Name	age related hearing loss 1
Allele Type	Spontaneous
Allele Synonym(s)	Cdh23^753A; mdfw
Gene Symbol and Name	Cdh23, cadherin 23 (otocadherin)
Gene Synonym(s)
Strain of Origin	multiple strains
Chromosome	10
Molecular Note	Genetic complementation tests have shown allelism between the mdfw (modifier of deaf waddler) locus and the ahl locus. Further analysis has shown this is caused by a G to A transition at coding nucleotide position 753 of Cdh23 (SNP rs257098870). This hypomorphic allele changes splice donor site G-GT to A-GT, causing frame skipping of exon 7. This is predicted to delete part of the 2nd and 3rd ectodomains and cause reduced message stability. Twenty-seven strains classified with ahl and carrying the 753A allele include: CD-1, RBF/DnJ, PL/J, AKR/J, RF/J, BALB/cBy, A/WySnJ, P/J, SENCARA/PtJ, DBA/1J, ALS/LtJ, C58/J, C57BLKS/J, 129P1/ReJ, C57BR/cd, SKH2/J, BUB/Bn, MA/MyJ, LP/J, 129X1/SvJ, NOR/LtJ, A/J, C57BL/6, NOD/LtJ, DBA/2J, ALR/LtJ, C57L/J. Strains classified with ahl that DO NOT carry this mutation include: 129S1/SvImJ, C3H/HeSnJ, I/LnJ, YBR/Ei, MRL/MpJ.

Disease/Phenotype

Disease Terms

Research Areas By Phenotype

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

Genotype: Kcnq2^Nmf134 related

Neurobiology Research
- Epilepsy
  - electroconvulsive seizures
- Neuroscience Mutagenesis Facility Strain

Genotype: Cdh23^ahl related

Neurobiology Research
- Hearing Defects
  - Age related hearing loss
Sensorineural Research
- Hearing Defects
  - Age related hearing loss

Mammalian Phenotype Terms by Genotype

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

Genotype: Kcnq2^Nmf134/Kcnq2⁺
C57BL/6J-Kcnq2

behavior/neurological phenotype

increased susceptibility to pharmacologically induced seizures
- Normal - however, mice do not exhibit spontaneous seizures
- mice exhibit a reduced threshold to seizures induced by petylenetetrazol compared to wild-type mice

abnormal seizure response to electrical stimulation
- Normal - however, mice do not exhibit spontaneous seizures
- mice exhibit electrically induced seizures

mammalian phenotype

nervous system phenotype
- Normal - mice exhibit normal nervous system morphology

nervous system phenotype

abnormal seizure response to electrical stimulation
- mice exhibit electrically induced seizures
- Normal - however, mice do not exhibit spontaneous seizures

increased susceptibility to pharmacologically induced seizures
- mice exhibit a reduced threshold to seizures induced by petylenetetrazol compared to wild-type mice
- Normal - however, mice do not exhibit spontaneous seizures

Genotype: Kcnq2^Nmf134/Kcnq2⁺
C57BL/6J-Kcnq2/J

behavior/neurological phenotype

abnormal seizure response to electrical stimulation
- mutants appear to have a low threshold to electroconvulsive clonic seizures. i.e. when stimulated transcorneally for minimal seizures, the majority of mice respond not with minimal, but with intense seizure
- rearing, forelimb clonus and jaw clonus, and/or tonic hind limb extension defined the intensity of the seizure as high

nervous system phenotype

abnormal seizure response to electrical stimulation
- mutants appear to have a low threshold to electroconvulsive clonic seizures. i.e. when stimulated transcorneally for minimal seizures, the majority of mice respond not with minimal, but with intense seizure
- rearing, forelimb clonus and jaw clonus, and/or tonic hind limb extension defined the intensity of the seizure as high

Genotype: Kcnq2^Nmf134/Kcnq2^Nmf134
C57BL/6J-Kcnq2/J

behavior/neurological phenotype

abnormal seizure response to electrical stimulation
- mice have a low threshold to electroconvulsive clonic seizures. i.e. when stimulated transcorneally for minimal seizures, mice respond not with minimal, but with intense seizure

nervous system phenotype

abnormal seizure response to electrical stimulation
- mice have a low threshold to electroconvulsive clonic seizures. i.e. when stimulated transcorneally for minimal seizures, mice respond not with minimal, but with intense seizure

References

Additional - Cdh23^ahl related

Additional - Kcnq2^Nmf134 related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Genotyping resources and troubleshooting
Appearance
- nonagouti black
  Related Genotype: a/a
Citation
When using the Nmf134 mouse strain in a publication, please cite the originating article(s) and include JAX stock #004703 in your Materials and Methods section.

Animal Health Reports

Facility Barrier Level Descriptions

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200

Pricing & Availability

Cryo Recovery

Domestic
International

Live Mouse

Age

Genotype

Price

weeks

Cryorecovery - Pricing

Service/Product	Description	Price
	Unknown for Kcnq2<Nmf134>

Payment Terms and Conditions

Terms are granted by individual review and stated on the customer invoice(s) and account statement. These transactions are payable in U.S. currency within the granted terms. Payment for services, products, shipping containers, and shipping costs that are rendered are expected within the payment terms indicated on the invoice or stated by contract. Invoices and account balances in arrears of stated terms may result in The Jackson Laboratory pursuing collection activities including but not limited to outside agencies and court filings.

The Jackson Laboratory's Genotype Promise

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.

Terms Of Use

General Terms and Conditions

Questions about Terms of Use

Licensing Information

Phone: 207-288-6470

Email: TechTran@jax.org

Also Known As:Nmf134

Genetic overview

Research Applications

Base Price

Important Note

Detailed Description

Development

Control Suggestions

Additional Information

Kcnq2Nmf134

Allele Symbol: Kcnq2Nmf134

Cdh23ahl

Allele Symbol: Cdh23ahl

Disease Terms

Research Areas By Phenotype

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

Genotype: Kcnq2Nmf134 related

Genotype: Cdh23ahl related

Mammalian Phenotype Terms by Genotype

Genotype: Kcnq2Nmf134/Kcnq2+C57BL/6J-Kcnq2

behavior/neurological phenotype

mammalian phenotype

nervous system phenotype

Genotype: Kcnq2Nmf134/Kcnq2+C57BL/6J-Kcnq2/J

behavior/neurological phenotype

nervous system phenotype

Genotype: Kcnq2Nmf134/Kcnq2Nmf134C57BL/6J-Kcnq2/J

behavior/neurological phenotype

nervous system phenotype

References

Additional - Cdh23ahl related

Additional - Kcnq2Nmf134 related

Genotyping Protocols

Appearance

Citation

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200

Live Mouse

Cryorecovery - Pricing

Payment Terms and Conditions

The Jackson Laboratory's Genotype Promise

Terms Of Use

Licensing Information

Kcnq2^Nmf134

Allele Symbol: Kcnq2^Nmf134

Cdh23^ahl

Allele Symbol: Cdh23^ahl

Genotype: Kcnq2^Nmf134 related

Genotype: Cdh23^ahl related

Genotype: Kcnq2^Nmf134/Kcnq2⁺
C57BL/6J-Kcnq2

Genotype: Kcnq2^Nmf134/Kcnq2⁺
C57BL/6J-Kcnq2/J

Genotype: Kcnq2^Nmf134/Kcnq2^Nmf134
C57BL/6J-Kcnq2/J

Additional - Cdh23^ahl related

Additional - Kcnq2^Nmf134 related