00846-A: Evaluation of a DNA Sequence Variant That May Cause Neuronal Ceroid Lipofuscinosis in Tibetan Terriers
Grant Status: Closed
AbstractNeuronal ceroid lipofuscinoses (NCLs) are inherited progressive diseases of the nervous system, with neurological symptoms including movement problems, visual impairment, seizures, loss of training, personality changes, and premature death. We have characterized a recessive late-onset form of NCL in Tibetan Terriers. Dogs can be carriers without showing any sign of disease and can pass on the disease to their offspring. With support from an earlier ACORN Grant, we have mapped the NCL mutation to a specific chromosomal position. In addition, we have identified a mutation at this mapping position that may or may not be causing the disease. With this new ACORN application we are requesting funds to complete the study. Specifically, we will devise an assay that detects this mutation and use it to analyze DNA samples from 100 dogs. If result from the first 100 tests indicate that we have, indeed identified the mutation responsible for NCL, we will use our test to analyze all of the over 600 Tibetan Terrier samples in our collection and make the results available to the owners. If the result from the first 100 tests indicate that this is not the authentic mutation, we will look for the mutation in other nearby genes.
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