Title |
Identification of the genomic mutation in Epha4rb-2J/rb-2J mice
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Published in |
Genome, May 2016
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DOI | 10.1139/gen-2015-0142 |
Pubmed ID | |
Authors |
Siti W. Mohd-Zin, Nor-Linda Abdullah, Aminah Abdullah, Nicholas D.E. Greene, Pike-See Cheah, King-Hwa Ling, Hadri Yusof, Ahmed I. Marwan, Sarah M. Williams, Kerri T. York, Azlina Ahmad-Annuar, Noraishah M. Abdul-Aziz |
Abstract |
The EphA4 receptor tyrosine kinase is involved in numerous cell-signalling activities during embryonic development. EphA4 has the ability to bind to both types of ephrin ligands, the ephrinAs and ephrinBs. The C57BL/6J-Epha4rb-2J/GrsrJ strain, denoted Epha4(rb-2J/rb-2J), is a spontaneous mouse mutant that arose at The Jackson Laboratory. These mutants exhibited a synchronous hind limb locomotion defect or "hopping gait" phenotype, which is also characteristic of EphA4 null mice. Genetic complementation experiments suggested that Epha4(rb-2J) corresponds to an allele of EphA4, but details of the genomic defect in this mouse mutant are currently unavailable. We found a single base-pair deletion in exon 9 resulting in a frame shift mutation that subsequently resulted in a premature stop codon. Analysis of the predicted structure of the truncated protein suggests that both the kinase and sterile α motif (SAM) domains are absent. Definitive determination of genotype is needed for experimental studies of mice carrying the Epha4(rb-2J) allele, and we have also developed a method to ease detection of the mutation through RFLP. Eph-ephrin family members are reportedly expressed as numerous isoforms. Hence, delineation of the specific mutation in EphA4 in this strain is important for further functional studies, such as protein-protein interactions, immunostaining and gene compensatory studies, investigating the mechanism underlying the effects of altered function of Eph family of receptor tyrosine kinases on phenotype. |
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