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Gene Review:

Jsr - jumbled spine and ribs

Mus musculus

Miyoshi, H. et al., Okano, S. et al., Okano, S. et al.

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High impact information on Jsr

In this study, we localized the Jsr mutation on distal Chromosome (Chr) 5 and constructed a high-resolution map [1].
The vertebrae of mutant mice (Jsr/+) are all shorter than those of normal mice (+/+) in the inbred line and show various abnormalities [1].
Subsequently, high-resolution mapping concluded the Jsr localization to be cen-Nfe2u-1.0cM-Jsr-0.2cM-D5Mit247,292-tel . Jsr/Jsr homozygotes are alive, as the mutation is not lethal [1].
Expression pattern of Lfng in the PSM of Jsr-mutant embryos was similar to that of the normal (C57BL/6) embryos [2].
Examination of the Lunatic fringe and Uncx4.1 expression by whole-mount in situ hybridization in the embryo of the CKH-Jsr (jumbled spine and ribs) mouse [2].

Biological context of Jsr

Therefore, we adopted the strategy of positional cloning for Jsr using a mouse bacterial artificial chromosome (BAC) library [3].
As the phenotype, a shortened trunk and kinky tail are characteristic Jsr traits [3].

Anatomical context of Jsr

These results indicate that the Jsr mutation disrupts the A-P polarity of somites during the somitogenesis without altering Lfng expression pattern in the PSM [2].

Analytical, diagnostic and therapeutic context of Jsr

Lfng was identified as the candidate gene for Jsr, but sequence analysis of this gene revealed no substitution in the coding region of cDNA [3].

References

Jumbled spine and ribs (Jsr): a new mutation on mouse chromosome 5. Miyoshi, H., Kon, Y., Seo, K.W., Jin, H.K., Hasegawa, A., Watanabe, T. Mamm. Genome (1999) [Pubmed]
Examination of the Lunatic fringe and Uncx4.1 expression by whole-mount in situ hybridization in the embryo of the CKH-Jsr (jumbled spine and ribs) mouse. Okano, S., Asano, A., Sasaki, N., Kon, Y., Watanabe, T., Agui, T. Jpn. J. Vet. Res. (2005) [Pubmed]
Genetic analysis of jumbled spine and ribs (Jsr) mutation affecting the vertebral development in mice. Okano, S., Asano, A., Kon, Y., Miyoshi, H., Watanabe, T. Biochem. Genet. (2002) [Pubmed]

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