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A novel murine gene, Sickle tail, linked to the Danforth's short tail locus, is required for normal development of the intervertebral disc.
- Source :
-
Genetics [Genetics] 2006 Jan; Vol. 172 (1), pp. 445-56. Date of Electronic Publication: 2005 Oct 03. - Publication Year :
- 2006
-
Abstract
- We established the mutant mouse line, B6;CB-SktGtAyu8021IMEG (SktGt), through gene-trap mutagenesis in embryonic stem cells. The novel gene identified, called Sickle tail (Skt), is composed of 19 exons and encodes a protein of 1352 amino acids. Expression of a reporter gene was detected in the notochord during embryogenesis and in the nucleus pulposus of mice. Compression of some of the nuclei pulposi in the intervertebral discs (IVDs) appeared at embryonic day (E) 17.5, resulting in a kinky-tail phenotype showing defects in the nucleus pulposus and annulus fibrosus of IVDs in SktGt/Gt mice. These phenotypes were different from those in Danforth's short tail (Sd) mice in which the nucleus pulposus was totally absent and replaced by peripheral fibers similar to those seen in the annulus fibrosus in all IVDs. The Skt gene maps to the proximal part of mouse chromosome 2, near the Sd locus. The genetic distance between them was 0.95 cM. The number of vertebrae in both [Sd +/+ SktGt] and [Sd SktGt/+ +] compound heterozygotes was less than that of Sd heterozygotes. Furthermore, the enhancer trap locus Etl4lacZ, which was previously reported to be an allele of Sd, was located in the third intron of the Skt gene.
- Subjects :
- Amino Acid Sequence
Animals
Base Sequence
Cell Nucleus genetics
Cloning, Molecular
Crosses, Genetic
Exons genetics
Female
Gene Expression Regulation, Developmental
Male
Mice embryology
Mice, Inbred C57BL
Molecular Sequence Data
Mutagenesis
Notochord abnormalities
Notochord embryology
Proteins genetics
Stem Cells metabolism
Tail embryology
beta-Galactosidase genetics
beta-Galactosidase metabolism
Fetal Development genetics
Intervertebral Disc abnormalities
Mice genetics
Mutation
Proteins physiology
Tail abnormalities
Subjects
Details
- Language :
- English
- ISSN :
- 0016-6731
- Volume :
- 172
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Genetics
- Publication Type :
- Academic Journal
- Accession number :
- 16204209
- Full Text :
- https://doi.org/10.1534/genetics.105.048934