Developmental anomalies in a special strain of mice

Danforth, C. H.

doi:10.1002/aja.1000450204

Cited by 58 publications

(19 citation statements)

References 9 publications

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“…In addition, a tetrasomy on HSA 12p (Steinbach and Rehder 1987) is also known to be associated with anorectal malformations and syndromes. Danforth's short tail (SD) mouse is the bestknown animal model, which explains the etiology and pathogenesis of anorectal malformations in mammalian species (Danforth 1930). The SD locus, the molecular nature of which is still unknown, is likely to be responsible for the phenotype imperforate anus with fistula to the urinary tract (Gluecksohn-Schoenheimer 1943).…”

Section: ÿ7supporting

confidence: 41%

Genomewide Scan for Anal Atresia in Swine Identifies Linkage and Association With a Chromosome Region onSus scrofaChromosome 1

2005

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Anal atresia is a rare and severe disorder in swine occurring with an incidence of 0.1-1.0%. A wholegenome scan based on affected half-sibs was performed to identify susceptibility loci for anal atresia. The analysis included 27 families with a total of 95 animals and 65 affected piglets among them. Animals were genotyped for 126 microsatellite markers distributed across the 18 autosomal porcine chromosomes and the X chromosome, covering an estimated 2080 cM. Single-point and multipoint nonparametric linkage scores were calculated using the computer package ALLEGRO 1.0. Significant linkage results were obtained for chromosomes 1, 3, and 12. Markers on these chromosomes and additionally on chromosomes for which candidate genes have been postulated in previous studies were subjected to the transmission disequilibrium test (TDT). The test statistic exceeded the genomewide significance level for adjacent markers SW1621 (P ¼ 7 3 10 ÿ7 ) and SW1902 (P ¼ 3 3 10 ÿ3 ) on chromosome 1, supporting the results of the linkage analysis. A specific haplotype associated with anal atresia that could prove useful for selection against the disorder was revealed. Suggestive linkage and association were also found for markers S0081 on chromosome 9 and SW957 on chromosome 12.

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Section: ÿ7supporting

confidence: 41%

Genomewide Scan for Anal Atresia in Swine Identifies Linkage and Association With a Chromosome Region onSus scrofaChromosome 1

2005

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“…Examining this region of the mouse chromosome for mutations described previously which might be lo cated in the Notchl gene revealed a single candidate lo cus, Danforth's short tail [Sd]. Sd is a spontaneous mu tant identified by Danforth (1930). Heterozygous Sd mice have a short tail with a reduced number of caudal vertebrae and some kinking (Dunn et al 1940;Griineberg 1953).…”

Section: Notchl Is Not Allelic To Danforth's Short Tailsupporting

confidence: 40%

Notch1 is essential for postimplantation development in mice.

Swiatek¹,

Lindsell²,

Amo³

et al. 1994

Genes Dev.

681

448

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The Notch gene of Drosopbila encodes a large transmembrane protein involved in cell fate determination during embryonic and larval development. This gene is evolutionarily conserved, and Notch homologs have been cloned from several vertebrate species. To examine the in vivo role of the Notchl gene, a mouse homolog of Notch, a mutation was introduced by targeted disruption in embryonic stem cells, and these cells were used to generate mutant mice. Intercrosses of animals heterozygous for the Notchl mutation yielded no live-born homozygous mutant offspring. Homozygous mutant embryos died before 11.5 days of gestation. Morphological and histological analysis of the homozygous mutant embryos indicated that pattern formation through the first nine days of gestation appeared largely normal. However, histological analysis of mutant embryos subsequent to this stage revealed widespread cell death. Death of mutant embryos did not appear to be attributable to defects in placentation or vascularization. Examination of the RNA expression pattern of the Notch2 gene, another Notch gene family member, indicated that it partially overlapped the Notchl expression pattern. Genetic analysis of the Notchl mutation also demonstrated that it was not allelic to a mouse mutation described previously, Danforth's short tail (Sd). These results demonstrate that the Notchl gene plays a vital role during early postimplantation development in mice.

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“…The experimental models for anorectal anomalies include those due to mutations, those that occur spontaneously and those induced by drugs. The most classical and oldest model is the one described by Danforth, which is known as "Danforth's short-tail mouse" 5 . This is a natural mutation that presents a series of malformations, and among these is imperforate anus.…”

Section: Discussionmentioning

confidence: 42%

Evaluation of an experimental model for anorectal anomalies induced by ethylenethiourea

2007

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PURPOSE: To evaluate an experimental model for anorectal anomalies and their principal associated malformations induced by ethylene thiourea (ETU). METHODS: Rat fetuses were utilized, divided into two groups: experimental group - fetuses from rats that received ETU on the 11th day of gestation at the dose of 125 mg/kg, diluted in distilled water to 1% concentration (12.5 ml/kg); and control group - fetuses from rats that received distilled water alone, at a volume of 12.5 ml/kg. On the 21st day of gestation, the animals were sacrificed by hypoxia in a carbon dioxide chamber, followed by laparotomy to remove the fetuses. These were initially examined externally to determine the sex and whether anorectal anomalies and malformations of the vertebral column and tail were present. Then, with the aid of microscopy, the fetuses underwent exploratory laparotomy to characterize the type of anorectal anomaly and investigate urological malformations. RESULTS: None of the fetuses in the control group presented anorectal anomaly, vertebral column malformation or urological structural alterations. In the experimental group, 71% presented anorectal anomaly, 80% presented vertebral column alterations and 35% presented urological alterations. CONCLUSION: The model described was shown to be easy to implement and presented results that allow its use in studying anorectal anomalies and associated malformations.

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Developmental anomalies in a special strain of mice

Cited by 58 publications

References 9 publications

Genomewide Scan for Anal Atresia in Swine Identifies Linkage and Association With a Chromosome Region onSus scrofaChromosome 1

Genomewide Scan for Anal Atresia in Swine Identifies Linkage and Association With a Chromosome Region onSus scrofaChromosome 1

Notch1 is essential for postimplantation development in mice.

Evaluation of an experimental model for anorectal anomalies induced by ethylenethiourea

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