These mice carry an ENU-induced mutation characterized by circling, head tossing behavior, and deafness.
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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) | Kcne1 | potassium voltage-gated channel, Isk-related subfamily, member 1 |
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 show circling and head tossing behavior, and a slight head tilt, observable at 4 weeks of age (+/-1 week; n=18). Two mutants tested for Auditory brainstem responses were found to be deaf. Serial sections of the ears of one mutant (32 days of age) showed a thickened tectorial membrane with mineralization and adhesion to Reissner's membrane; whole ear exam of one other mutant (30 days of age) showed abnormally shaped maculae. Standard pathology work-up showed no other abnormalities.
Because of the map position of this mutation, and its phenotypic similarity to Kcne1 mutations (potassium voltage-gated channel, Isk-related subfamily, member 1, see also Vetter et al., 1996), complementation tests with Kcne1pkr (Kcne1 punk rocker Letts et al., 2000) have been performed to determine if NMF190 represents an allele of Kcne1. Two litters of heterozygote matings between NMF190 and Kcne1pkr yielded 2 mutants in a total of 12 progeny, suggesting that NMF190 indeed represents an allele of Kcne1. The NMF190 mutants might therefore be useful for the study of Jervell and Lange-Nielsen syndrome, a human autosomal recessive disorder, affecting auditory and cardiac functions (Letts et al., 2000).
Serial sections of the ears of one mutant (32 days of age) showed a thickened tectorial membrane with mineralization and adhesion to Reissner's membrane; whole ear exam of one other mutant (30 days of age) showed abnormally shaped maculae. Standard pathology work-up showed no other 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 | 2 Jackson |
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Allele Type | Chemically induced (ENU) |
Allele Synonym(s) | Kcne1nmf190; neuroscience mutagenesis facility, 190; NMF190 |
Gene Symbol and Name | Kcne1, potassium voltage-gated channel, Isk-related subfamily, member 1 |
Gene Synonym(s) | |
Strain of Origin | C57BL/6J |
Chromosome | 16 |
Molecular Note | This phenotypic mutant was identified in an ENU mutagenesis screen. Complemetation tests demonstrated that this mutation is an allele of Kcne1. |
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 C57BL/6J-Kcne12J/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #004820 in your Materials and Methods section.
Facility Barrier Level Descriptions
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