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Identification of the genomic mutation in Epha4rb-2J/rb-2J mice

Overview of attention for article published in Genome, July 2016
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Title
Identification of the genomic mutation in Epha4rb-2J/rb-2J mice
Published in
Genome, July 2016
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.

Twitter Demographics

The data shown below were collected from the profile of 1 tweeter who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 14 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Malaysia 1 7%
Unknown 13 93%

Demographic breakdown

Readers by professional status Count As %
Other 3 21%
Professor > Associate Professor 3 21%
Professor 2 14%
Researcher 2 14%
Student > Master 2 14%
Other 2 14%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 3 21%
Neuroscience 3 21%
Agricultural and Biological Sciences 2 14%
Medicine and Dentistry 2 14%
Psychology 1 7%
Other 2 14%
Unknown 1 7%

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 05 April 2017.
All research outputs
#8,309,431
of 9,541,169 outputs
Outputs from Genome
#436
of 642 outputs
Outputs of similar age
#220,385
of 262,037 outputs
Outputs of similar age from Genome
#17
of 27 outputs
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