Exencephaly in the syndrome of trisomy No. 12 of the foetal mouse

Gropp, A.; Kolbus, Ulrike

doi:10.1038/249145a0

Cited by 16 publications

(10 citation statements)

References 9 publications

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“…This first demonstration for wild house mice of Robertsonian fusion mutations (the joining together of pairs of the standard acrocentric chromosomes at their centromeres to form metacentric chromosomes) heralded the start of important evolutionary studies (reviewed by Boursot et al (1993) ; Sage et al (1993) ;and Nachman & Searle (1995)) and biomedical investigations making use of Robertsonian chromosomal markers (e.g. Gropp & Kolbus 1974 ;Herbst et al 1981 ;Cattanach & Kirk 1985). Mice from Val Poschiavo and Upper Valtellina have also been sources of critical genic markers for studies of mam-* To whom correspondence should be sent.…”

Section: Introductionmentioning

confidence: 99%

Genetic distinctiveness of a village population of house mice: relevance to speciation and chromosomal evolution

Fraguedakis-Tsolis

Hauffe²,

Searle

1997

Proc. R. Soc. Lond. B

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SUMMARYA population of house mice, Mus musculus domesticus, from the village of Migiondo was found to be genetically distinct from nearby populations in Upper Valtellina (Italian Alps). At the supernatant malic enzyme locus, Mod1, the only alleles found in Migiondo (c and n2) were virtually absent from the other populations in the valley, which were characterized by allele a. The extraordinary genetic distinctiveness of the Migiondo population is apparently the result of genetic drift, perhaps coupled with a founder event, and attests to the existence of nearly impenetrable geographic barriers around the village isolating it from other settlements only a few hundred metres away. The Mod1 features of the house mice in Migiondo are reminiscent of the characteristics of house mice on maritime islands. The genetic confirmation of the geographic isolation of Migiondo is of interest because there is evidence that this village may have been the site of recent speciation and extinction events. The data are also of significance given the phenomenal chromosomal variation in house mice from the vicinity of the Alps. It has frequently been proposed that genetic drift\founder events are of importance in the fixation of chromosomal rearrangements ; this study provides the first direct evidence for their occurrence in alpine mouse populations.

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Section: Introductionmentioning

confidence: 99%

Genetic distinctiveness of a village population of house mice: relevance to speciation and chromosomal evolution

Fraguedakis-Tsolis

Hauffe²,

Searle

1997

Proc. R. Soc. Lond. B

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“…We used male mice double heterozygous for two different metacentric chromosomes that contain chromosome 12. In these mice, both chromosomes 12 frequently cosegregate during meiosis, allowing the formation of gametes that upon fecundation can give rise to trisomic embryos (Ts12) (24). This approach is complementary to the introduction of prerearranged transgenes in mice.…”

Section: Discussionmentioning

confidence: 99%

“…In these animals, the nonsegregation of the chromosome 12 pair is frequent, as each copy is fused to a different chromosome (Fig. 1A) (24). Upon fecundation, a third copy of the chromosome 12 is added, and these embryos, although with a limited life span, reach the 16 days postcoitum (dpc) stage.…”

Section: Generation Of Ig Heavy Chain Three-allelic Chimerasmentioning

confidence: 99%

“…Upon fecundation, a third copy of the chromosome 12 is added, and these embryos, although with a limited life span, reach the 16 days postcoitum (dpc) stage. Additionally, they can be easily distinguished from euploid siblings by their exencephalic phenotype (24). Fetal liver cell Ts12 animals were used to reconstitute the hemopoietic system of irradiated RAG2…”

Section: Generation Of Ig Heavy Chain Three-allelic Chimerasmentioning

confidence: 99%

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Mice Triallelic for the Ig Heavy Chain Locus: Implications for VHDJH Recombination

Barreto

Meo

Cumano

2001

The Journal of Immunology

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VHDJH recombination has been extensively studied in mice carrying an Ig heavy chain rearranged transgene. In most models, inhibition of endogenous Ig rearrangement occurs, consistently with the feedback model of IgH recombination. Nonetheless, an incomplete IgH allelic exclusion is a recurrent observation in these animals. Furthermore, transgene expression in ontogeny is likely to start before somatic recombination, thus limiting the use of Ig-transgenic mice to access the dynamics of VHDJH recombination. As an alternative approach, we challenged the regulation of somatic recombination with the introduction of an extra IgH locus in germline configuration. This was achieved by reconstitution of RAG2−/− mice with fetal liver cells trisomic for chromosome 12 (Ts12). We found that all three alleles can recombine and that the ratio of Ig allotype-expressing B cells follows the allotypic ratio in trisomic cells. Although these cells are able to rearrange the three alleles, the levels of Ig phenotypic allelic exclusion are not altered when compared with euploid cells. Likewise, we find that most VDJ rearrangements of the silenced allele are unable to encode a functional μ-chain, indicating that the majority of these cells are also genetically excluded. These results provide additional support for the feedback model of allelic exclusion.

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“…. Klose (7,9) and has been described (7,16 Ts12 embryos consistently show an exencephaly with malformations of brain and skull (13,20). The liver, in contrast, can be considered to be a normally developed organ.…”

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confidence: 99%

Analysis of two-dimensional protein patterns from mouse embryos with different trisomies.

Klose¹,

Pütz²

1983

Proc. Natl. Acad. Sci. U.S.A.

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Two-dimensional protein patterns from whole mouse embryos with different trisomies (Ts) (Tsl, and from different organs (normal or malformed) and developmental stages of Ts12 embryos were analyzed by comparison with control patterns. Quantitatively altered proteins were found, and a portion of these (21/41,000, average) was attributable to the Ts conditions. Most of these variants were found always (regularly) in Ts embryos. They could be divided into two groups: group I shows characteristics (chromosome specific, density increased by a factor close to 1.5 ± 0.12) compatible with proteins directly affected by the Ts; and group II (chromosome nonspecific, density decreased, seldom increased) results most likely from indirect effects. The incidence of group II variants (about 13/=1,000, average) was considerably greater than that of the group I variants (about 3/=1,000). The frequency of both types of variants, however, was far lower than was expected by a rough estimation. Apparently, a relatively small number of changes, rather than a complex, escalating effect, was induced at the protein level by the Ts. Some observations suggest that this is due to a stable regulation of protein concentrations. The proportion in which quantitative changes of different types occurred in the protein patterns did not correlate with the degree of developmental impairments (malformation, retardation, early death) of the embryos. The generalized occurrence of protein changes on the cellular level might explain the restricted viability of Ts mouse embryos.

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Exencephaly in the syndrome of trisomy No. 12 of the foetal mouse

Cited by 16 publications

References 9 publications

Genetic distinctiveness of a village population of house mice: relevance to speciation and chromosomal evolution

Genetic distinctiveness of a village population of house mice: relevance to speciation and chromosomal evolution

Mice Triallelic for the Ig Heavy Chain Locus: Implications for VHDJH Recombination

Analysis of two-dimensional protein patterns from mouse embryos with different trisomies.

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