These mice carry an ENU-induced mutation and are characterized by small body size, body tremors, slightly abnormal movement of hind limbs, and hearing abnormalities.
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.
Read More +Genetic Background | Generation |
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Allele Type | Gene Symbol | Gene Name |
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Chemically induced (ENU) | nmf118 | neuroscience mutagenesis facility, 118 |
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, show body tremor, and slightly abnormal movement of hind limbs; toes are frequently curled and the foot pads do not make proper contact with the ground. In addition, abnormal results in two phenotypic screens were observed: grip strength and auditory brainstem response (ABR). Of two mutants tested for grip strength, one showed reduced values, and of four mutants tested for ABR, two were deaf, one showed reduced hearing ability at 16 and 32 Hz, and one tested normal. These results, combined with the pathology findings, suggest that these are mutants with hearing abnormalities.
Standard pathology work-up on two mutants (110 or 150 days of age) showed degenerating muscle fibers mixed with giant fibers in the
spinal muscle.
A deficiency of neurons in the
spiral ganglia (
normal spinal ganglia)
and an absence of hair cells were noted in the ear. Standard pathology performed on a much younger mutant (36 days of age) revealed 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, 118 |
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Allele Type | Chemically induced (ENU) |
Allele Synonym(s) | |
Gene Symbol and Name | nmf118, neuroscience mutagenesis facility, 118 |
Gene Synonym(s) | |
Strain of Origin | C57BL/6J |
Chromosome | 10 |
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-nmf118/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #004747 in your Materials and Methods section.
Facility Barrier Level Descriptions
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Unknown for nmf118 |
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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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