NDLI: ENU mutagenesis reveals a highly mutable locus on mouse Chromosome 4 that affects ear morphogenesis

Content Provider	Springer Nature Link
Author	Kiernan, Amy E. Erven, Alexandra Voegeling, Stéphanie Peters, Jo lan, Pat Hunter, Jackie Bacon, Yvonne Steel, Karen P. Brown, Steve D. M. Guénet, Jean Louis
Copyright Year	2002
Abstract	Chemical mutagenesis followed by screening for abnormal phenotypes in the mouse holds much promise as a method for revealing gene function. This method is particularly well-suited for discovering genes involved in hearing or balance function, as these defects are relatively easy to screen for in the mouse. We report here the inner ear abnormalities and genetic localization of seven new dominant mutations created by ENU mutagenesis. All seven mutant stocks were identified because of circling and/or head-weaving behavior, which is an indication of balance dysfunction. Investigation of the inner ears of the seven mutant stocks revealed very similar lateral and posterior semicircular canal defects. Studies of the development of the canals in one mutant stocks revealed that the affected canals showed reduced outgrowth and delayed canal fusion. Physiological studies performed in one mutant stock showed raised average compound-action-potential thresholds of approximately 10–20 dB sound pressure level (SPL) (depending on frequency), indicating a mild hearing impairment, although scanning electron microscopy performed in several of the mutant stocks revealed no obvious structural defects in the organ of Corti. All seven mutations mapped to the proximal portion of Chromosome (Chr) 4, near the centromere. On the basis of their similar phenotype and map location, we suggest that the seven mutant genes may be allelic and represent a highly mutable locus on Chr 4 that may be particularly susceptible to ENU-induced mutation on the BALB/c genetic background.
Starting Page	142
Ending Page	148
Page Count	7
File Format	PDF
ISSN	09388990
Journal	Mammalian Genome
Volume Number	13
Issue Number	3
e-ISSN	14321777
Language	English
Publisher	Springer-Verlag
Publisher Date	2002-01-01
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Anatomy Cell Biology Zoology
Content Type	Text
Resource Type	Article
Subject	Genetics

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