Whirlin is a
protein that in humans is encoded by the ''DFNB31''
gene.
In rat brain, WHRN interacts with a calmodulin-dependent serine kinase,
CASK, and may be involved in the formation of scaffolding protein complexes that facilitate synaptic transmission in the central nervous system (CNS).
Mutations in this gene, also known as WHRN, cause autosomal recessive deafness.
Model organisms
Model organism
A model organism (often shortened to model) is a non-human species that is extensively studied to understand particular biological phenomena, with the expectation that discoveries made in the model organism will provide insight into the workin ...
s have been used in the study of WHRN function. A conditional
knockout mouse line, called ''Whrn
tm1a(EUCOMM)Wtsi''
was generated as part of the
International Knockout Mouse Consortium
The International Knockout Mouse Consortium (IKMC) is a scientific endeavour to produce a collection of mouse embryonic stem cell lines that together lack every gene in the genome, and then to distribute the cells to scientific researchers to crea ...
program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.
Male and female animals underwent a standardized
phenotypic screen to determine the effects of deletion.
Twenty tests were carried out on
mutant mice and two significant abnormalities were observed.
''Whrn
tm1a(EUCOMM)Wtsi''
homozygote mice show a moderate to severe
hearing loss at 14 weeks. Female homozygous mutant animals also displayed an increased thermal nociceptive threshold in a
hot plate test.
References
Further reading
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External links
GeneReviews/NCBI/NIH/UW entry on Usher Syndrome Type II
{{PDB Gallery, geneid=25861
Genes mutated in mice