These mice carry an ENU-induced mutation characterized by small size and a subtle body tremor.
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) | nmf111 | neuroscience mutagenesis facility, 111 |
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 can easily be identified at wean by their small size and all develop a subtle body tremor that is apparent by 8 weeks of age, but may appear as early as 3-4 weeks (average time of onset 47.2+/-18.2 days); they walk low on their hind limbs, which also intermittently show a prolonged extension, making their movement appear to be 'hesitant'. A colony can be maintained through normal breeding. Standard pathology work-up on two mutants (183 days of age) showed thinning along the periphery of the retina.
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.
A 32 SNP (single nucleotide polymorphism) panel analysis, with 27 markers covering all 19 chromosomes and the X chromosome, as well as 5 markers that distinguish between the C57BL/6J and C57BL/6N substrains, was performed on the rederived living colony at The Jackson Laboratory Repository. While the 27 markers throughout the genome suggested a C57BL/6 genetic background, 2 of 5 markers that determine C57BL/6J from C57BL/6N were found to be segregating. These data suggest the mice sent to The Jackson Laboratory Repository were on a C57BL/6N genetic background.
Allele Name | neuroscience mutagenesis facility, 111 |
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Allele Type | Chemically induced (ENU) |
Allele Synonym(s) | |
Gene Symbol and Name | nmf111, neuroscience mutagenesis facility, 111 |
Gene Synonym(s) | |
Strain of Origin | C57BL/6J |
Chromosome | 4 |
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-nmf111/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #004812 in your Materials and Methods section.
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Unknown for nmf111 |
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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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