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Insertional mutation on mouse chromosome 18 with vestibular and craniofacial abnormalities
C N Ting1, D Kohrman, D L Burgess
1Department of Human Genetics, University of Michigan, Ann Arbor 48109-0618.
Genetics
|January 1, 1994
Summary
Transgenic mice with a dominant mutation exhibit hyperactivity and circling behavior due to inner ear abnormalities. This insertional mutation offers molecular access to genes within the Twirler region on mouse chromosome 18.
Area of Science:
- Genetics
- Developmental Biology
- Neuroscience
Background:
- Insertional mutagenesis in mice can lead to dominant mutations affecting complex phenotypes.
- Understanding gene function often relies on creating animal models with specific genetic alterations.
Purpose of the Study:
- To characterize a novel dominant mutation in transgenic mice (line Tg9257) resulting from insertional mutagenesis.
- To investigate the genetic basis and phenotypic consequences of the mutation, particularly its relation to the Twirler locus.
Main Methods:
- Generation and phenotypic analysis of transgenic mice (Tg9257).
- Morphological examination of inner ear structures.
- Localization of transgene insertion site using in situ hybridization.
- Genetic mapping in an interspecific backcross.
Main Results:
- Heterozygous Tg9257 mice display hyperactivity, circling behavior, and facial abnormalities linked to inner ear defects.
- The transgene insertion site was mapped to mouse chromosome 18, near known genes.
- The phenotype suggests the transgene insertion may be at the Twirler locus.
- Homozygosity leads to prenatal lethality, but compound heterozygotes are viable.
Conclusions:
- The Tg9257 line represents a valuable insertional mutant for studying the Twirler region.
- This model provides molecular access to genes involved in neurodevelopmental processes and inner ear function.