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A MOUSE MODEL FOR RIEGER SYNDROME.

Hjalt, Tord LU ; Yang, B ; Semina, Elena V ; Cao, X ; Reiter, R S ; Kirby, P A ; Hrstka, R F ; Lin, J J ; Williamson, R A and Murray, J C (1999) American Society of Human Genetics
Abstract
Rieger syndrome is an autosomal dominant human disorder affecting eye, tooth and umbilical development, and
whose primary morbidity is the 50% occurrence of glaucoma in affected individuals. The identification of etiologic
mutations in the PITX2 gene and its encoded protein, solurshin, inspired the development of a transgenic animal that
might serve as a model for this disorder. In addition, the more recent identification that PITX2 also plays a role in leftright
axis determination also suggests that both heterozygote and homozygote knockouts might contribute to our
understanding of cardiac development, as well. The mouse PITX2 homolog was identified and inactivated through gene
targeting by deleting the homeobox... (More)
Rieger syndrome is an autosomal dominant human disorder affecting eye, tooth and umbilical development, and
whose primary morbidity is the 50% occurrence of glaucoma in affected individuals. The identification of etiologic
mutations in the PITX2 gene and its encoded protein, solurshin, inspired the development of a transgenic animal that
might serve as a model for this disorder. In addition, the more recent identification that PITX2 also plays a role in leftright
axis determination also suggests that both heterozygote and homozygote knockouts might contribute to our
understanding of cardiac development, as well. The mouse PITX2 homolog was identified and inactivated through gene
targeting by deleting the homeobox region of the gene. Mice heterozygous for the deletion show Rieger-like in the
craniofacial features, including smaller teeth and eyes, increased height of the skull, and smaller length of the mandible
compared with their wild-type littermates. The heterozygotes are otherwise normal, including body weight, size, and
fertility of both sexes. Mice homozygous for the Pitx2 deletion die in utero around embryonic day 9.5, though our
analysis thus far does not suggest the cause of death. The heart, placenta, and umbilical core are normal and
development is not obviously impaired. Further analysis of the homozygous embryos is ongoing. (Less)
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Contribution to conference
publication status
published
subject
conference name
American Society of Human Genetics
conference location
San Francisco, United States
conference dates
1999-10-26
language
English
LU publication?
no
id
d5637a5c-9f79-4241-8cd6-0a3a8c84976e
alternative location
https://www.ashg.org/wp-content/uploads/2019/10/1999-poster-abstracts.pdf
date added to LUP
2024-12-10 09:23:59
date last changed
2025-04-04 14:58:49
@misc{d5637a5c-9f79-4241-8cd6-0a3a8c84976e,
  abstract     = {{Rieger syndrome is an autosomal dominant human disorder affecting eye, tooth and umbilical development, and<br/>whose primary morbidity is the 50% occurrence of glaucoma in affected individuals. The identification of etiologic<br/>mutations in the PITX2 gene and its encoded protein, solurshin, inspired the development of a transgenic animal that<br/>might serve as a model for this disorder. In addition, the more recent identification that PITX2 also plays a role in leftright<br/>axis determination also suggests that both heterozygote and homozygote knockouts might contribute to our<br/>understanding of cardiac development, as well. The mouse PITX2 homolog was identified and inactivated through gene<br/>targeting by deleting the homeobox region of the gene. Mice heterozygous for the deletion show Rieger-like in the<br/>craniofacial features, including smaller teeth and eyes, increased height of the skull, and smaller length of the mandible<br/>compared with their wild-type littermates. The heterozygotes are otherwise normal, including body weight, size, and<br/>fertility of both sexes. Mice homozygous for the Pitx2 deletion die in utero around embryonic day 9.5, though our<br/>analysis thus far does not suggest the cause of death. The heart, placenta, and umbilical core are normal and<br/>development is not obviously impaired. Further analysis of the homozygous embryos is ongoing.}},
  author       = {{Hjalt, Tord and Yang, B and Semina, Elena V and Cao, X and Reiter, R S and Kirby, P A and Hrstka, R F and Lin, J J and Williamson, R A and Murray, J C}},
  language     = {{eng}},
  title        = {{A MOUSE MODEL FOR RIEGER SYNDROME.}},
  url          = {{https://www.ashg.org/wp-content/uploads/2019/10/1999-poster-abstracts.pdf}},
  year         = {{1999}},
}