Transgenic mouse model of hemifacial microsomia: Cloning and characterization of insertional mutation region on chromosome 10
- Shimane Medical Univ. (Japan); and others
The 643 transgenic mouse line carries an autosomal dominant insertional mutation that results in hemifacial microsomia (HFM), including microtia and/or abnormal biting. In this paper, we characterize the transgene integration site in transgenic mice and preintegration site of wildtype mice. The locus, designated Hfm (hemifacial microsomia-associated locus), was mapped to chromosome 10, B1-3, by chromosome in situ hybridization. We cloned the transgene insertion site from the transgenic DNA library. By using the 5{prime} and 3{prime} flanking sequences, the preintegration region was isolated. The analysis of these regions showed that a deletion of at least 23 kb DNA occurred in association with the transgene integration. Evolutionarily conserved regions were detected within and beside the deleted region. The result of mating between hemizygotes suggests that the phenotype of the homozygote is lethality in the prenatal period. These results suggests that the Hfm locus is necessary for prenatal development and that this strain is a useful animal model for investigating the genetic predisposition to HFM in humans.
- OSTI ID:
- 183716
- Journal Information:
- Genomics, Vol. 23, Issue 3; Other Information: PBD: Oct 1994
- Country of Publication:
- United States
- Language:
- English
Similar Records
A postimplantation lethal mutation induced by transgene insertion on mouse chromosome 8
Expression of human protamine P1 in sperm of transgenic mice