These mice carry an ENU-induced mutation characterized by dystrophic axons and abnormal muscle fibers.
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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) | nmf110 | neuroscience mutagenesis facility, 110 |
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 are small and exhibit an unsteady gait, which can be detected at 4 weeks of age (+/- 0.48; n=21). A colony can be maintained through heterozygote matings. Two female mutants tested showed weights slightly (approximately 10%) below normal. Two mutants were tested for Fear-potentiated-startle and Acoustic startle response, and for each screen one mutant showed abnormal, one normal results. Unaffected littermates showed normal results (n=5). Similarly, auditory brainstem responses (at 6 weeks of age) showed one mutant to be deaf and one to be severely hearing impaired (only a late response to a 8kHz stimulus at 90db was observed), while two unaffected littermates tested normal.
Standard pathology work-up on 3 mutants (113 - 161 days of age) showed dystrophic axons and a few abnormal muscle fibers. Large lobules of lymphocytes in the lung and mild hydrocephaly were also present in one mutant. Retinal degeneration, and a loss of hair cells, supporting cells and ganglionic cells of the ear were also observed in the oldest mutant.
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, 110 |
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Allele Type | Chemically induced (ENU) |
Allele Synonym(s) | |
Gene Symbol and Name | nmf110, neuroscience mutagenesis facility, 110 |
Gene Synonym(s) | |
Strain of Origin | C57BL/6J |
Chromosome | 18 |
Molecular Note | This phenotypic mutant was identified in an ENU mutagenesis screen. |
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-nmf110/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #004811 in your Materials and Methods section.
Facility Barrier Level Descriptions
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Unknown for nmf110 |
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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.
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