These mice carry an ENU-induced mutation characterized by a low threshold to electroconvulsive clonic seizures.
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Read More +Genetic Background | Generation |
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Allele Type | Gene Symbol | Gene Name |
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Chemically induced (ENU) | Kcnq2 | potassium voltage-gated channel, subfamily Q, member 2 |
Allele Type | Gene Symbol | Gene Name |
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Spontaneous | Cdh23 | cadherin 23 (otocadherin) |
The C57BL/6J background strain is homozygous for the age related hearing loss mutation Cdh23ahl, which on this background causes progressive hearing loss with onset after 10 months of age.
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.
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.
Allele Name | neuroscience mutagenesis facility, 134 |
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Allele Type | Chemically induced (ENU) |
Allele Synonym(s) | Kcnq2V182M |
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. |
Allele Name | age related hearing loss 1 |
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Allele Type | Spontaneous |
Allele Synonym(s) | Cdh23753A; 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. |
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.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
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Unknown for Kcnq2<Nmf134> |
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