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- Title
Identification of the genomic mutation in Epha4<sup> rb-2J/rb-2J</sup> mice.
- Authors
Mohd-Zin, Siti W.; Abdullah, Nor-Linda; Abdullah, Aminah; Greene, Nicholas D.E.; Cheah, Pike-See; Ling, King-Hwa; Yusof, Hadri; Marwan, Ahmed I.; Williams, Sarah M.; York, Kerri T.; Ahmad-Annuar, Azlina; Abdul-Aziz, Noraishah M.; Cristescu, M.E.
- 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.
- Subjects
GENETIC mutation; MICE genetics; EPHRIN receptors; EMBRYOLOGY; GENETIC code; ALLELES
- Publication
Genome, 2016, Vol 59, Issue 7, p439
- ISSN
0831-2796
- Publication type
Article
- DOI
10.1139/gen-2015-0142