These mice carry a spontaneous mutation at the Nppc locus characterized by proportionate dwarfing of organs and shorter tails and long bones.
Read More +Genetic Background | Generation |
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000664 C57BL/6J |
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Allele Type | Gene Symbol | Gene Name |
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Spontaneous | Nppc | natriuretic peptide type C |
The C57BL/6J background strain is homozygous for Cdh23ahl, the age related hearing loss 1 mutation, which on this background results in progressive hearing loss with onset after 10 months of age. The retinal degeneration 1 mutation, Pde6brd1, of the PL/J donor strain may still be segregating in this incipient congenic.
The lbab mutation arose spontaneously on the PL/J inbred strain at The Jackson Laboratory in 1996 when that inbred was at generation F171. Because this mutation was difficult to maintain on the PL/J background, it was immediately backcrossed onto C57BL/6J. For the most part, this has been done by breeding heterozygotes with C57BL/6J mates then progeny testing the offspring to identify heterozygotes to continue the backcross. This strain reached F171+N6F1 in 2004.
Allele Name | long bone abnormality |
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Allele Type | Spontaneous |
Allele Synonym(s) | lbab |
Gene Symbol and Name | Nppc, natriuretic peptide type C |
Gene Synonym(s) | |
Strain of Origin | PL/J |
Chromosome | 1 |
Molecular Note | lbab is a spontaneous mutation identified at The Jackson Laboratory. A C-to-G transversion mutation in exon 2 results in the substitution of arginine with glycine at position 117 (p.R117G) in a conserved domain of the encoded protein. |
Homozygotes have not been found to breed.
When using the long bone abnormality mouse strain in a publication, please cite the originating article(s) and include JAX stock #004521 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
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Heterozygous for Nppc<lbab> |
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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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