Studies on the inheritance of vaginal septa in mice, a trait with low penetrance

Shire, J. G. M.

doi:10.1530/jrf.0.0700333

Cited by 9 publications

(8 citation statements)

References 23 publications

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“…Our studies of genetic variation affecting reproductive physiology in C57BL/6By, BALB/cBy and their CXB recombinants (Shire & Whitten, 1980;Shire, 1984;Shukri & Shire, 1986) have revealed a phenotype unique to CXBI mice. This paper shows that the unusual seminal vesicles in these mice are the result of a novel mutation and are not the consequence of recombination of alleles present in the progenitor strains.…”

Section: Introductionmentioning

confidence: 97%

Recessive mutation in a standard recombinant-inbred line of mice affects seminal vesicle shape

1988

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A recessive autosomal mutation has been found in the CXBI/ByEss recombinant-inbred line but in neither of the parental strains, C57BL/6ByEss and BALB/cByEss. Its presence in the CXBI/ByJax and CXBI/ByLac sublines suggests an origin early in inbreeding. The locus, seminal vesicle shape (svs), appears to be linked to the albino locus on chromosome 7. The homozygote has seminal vesicles with a smooth tubular external appearance. In segregating crosses homozygotes had slightly lighter seminal vesicles but the weights of other androgen target organs were not reduced. Exogenous testosterone increased the size of the seminal vesicles but did not alter their shape. The mutation did not affect the pattern of proteins on SDS-acrylamide gel electrophoresis, which did differ between the parental strains. The locus affecting a 27000 Da protein has provisionally been assigned the symbol svp-4.

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Section: Introductionmentioning

confidence: 97%

Recessive mutation in a standard recombinant-inbred line of mice affects seminal vesicle shape

1988

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“…Overall, these are no more than an indication of the contribution of large single-gene mutations to easy-to-evaluate phenotypic traits and provide a warning about the potential impact of major mutations on less evident phenotypic characters. An example of these partially hidden mutations is given by the genetic basis of the vaginal septa in several Genetic stability of inbred mice inbred strains of mice, this being a dorsoventral vaginal fibrous partition that is covered by the normal epithelium in BALB/cJ (Cunliffe-Beamer and Feldman, 1976) and C57BL/6J backgrounds (Shire, 1984) among others. Although causal mutations have never been characterized, a polygenic recessive inheritance pattern was reported (Cunliffe-Beamer and Feldman, 1976;Shire, 1984).…”

Section: Single-gene Mutationsmentioning

confidence: 99%

“…An example of these partially hidden mutations is given by the genetic basis of the vaginal septa in several Genetic stability of inbred mice inbred strains of mice, this being a dorsoventral vaginal fibrous partition that is covered by the normal epithelium in BALB/cJ (Cunliffe-Beamer and Feldman, 1976) and C57BL/6J backgrounds (Shire, 1984) among others. Although causal mutations have never been characterized, a polygenic recessive inheritance pattern was reported (Cunliffe-Beamer and Feldman, 1976;Shire, 1984). It is important to note that this anatomical anomaly still appears at low rates of incidence in current C57BL/6J females (J.F.…”

Section: Single-gene Mutationsmentioning

confidence: 99%

“…Nevertheless, the persistence of vaginal septa in current breeding stocks must not be viewed as a biological or genetic abnormality. Whatever the genetic basis for vaginal septa may be, one or more recessive mutations (Cunliffe-Beamer and Feldman, 1976) with low penetrance (Shire, 1984) would be very difficult to remove from a mouse population, even under phenotypic selection against affected females or breeding stock producing affected offspring (Falconer and Mackay, 1996).…”

Section: Single-gene Mutationsmentioning

confidence: 99%

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Inbred mouse strains and genetic stability: a review

Casellas

2011

Animal

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Inbred mice were essential animal models for scientific research during the 20th century and will contribute decisive results in the current and next centuries. Far from becoming an obsolete research tool, the generation of new inbred strains is continuing and such strains are being used in many research fields. However, their genetic properties have been overlooked for decades, although recent research has revealed new insights into their genetic fragility and relative instability. Contrary to what we usually assume, inbred mice are far from being completely isogenic and both single-gene major mutations and polygenic mutational variability are continuously uploading into inbred populations as new sources of genetic polymorphisms. Note that several inbred strains from new major mutations are released every year, whereas small mutations can accumulate up to accounting for a significant percentage of the phenotypic variance (e.g. 4.5% in a recent study on C57BL/6J mice). Moreover, this genetic heterogeneity can be maintained for several generations by heterozygote selection and, if fixed instead of dropping off, genetic drift must be anticipated. The contribution of accidental genetic contamination in inbred strains must also be considered, although its incidence in current breeding stocks should be minimal, or even negligible. This review revisits several relevant topics for current inbred strains, discussing the latest cutting-edge results within the context of the genetic homogeneity and stability of laboratory mice. Inbred mice can no longer be considered as completely isogenic, but provide a remarkably homogeneous animal model with an inevitable moderate-to-low degree of genetic variability. Despite a certain degree of genetic heterogeneity becoming inescapable, inbred mice still provide very useful animal models with evident advantages when compared with outbred, that is, highly variable, populations.Keywords: heterozygote selection, inbred strain, isogenicity, mouse, mutation Implications Inbred mice are basic tools for multiple research fields. Despite their relevance, their genetic architecture was overlooked for decades and recent research evidenced their genetic fragility, and even instability. Within this context, this review revisits several hot topics for current inbred strains, discussing the latest cutting-edge results on mutation and genetic drift, and characterizing other sources of genetic heterogeneity such as heterozygote selection or contamination. Far from invalidating the usefulness of inbred mice in research, this review was an attempt to describe the different sources of allogenicity and warns about potential consequences on the genetic stability of mice.

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“…The C57BL/6 and BALB/c strains were chosen for comparison because of reproductive and behavioural differences (McGill & Manning, 1976;Shire & Whitten, 1980;Shire, 1984;Bander et al, 1988) and differences in the post-natal development of gonads and other endocrine organs (Shukri & Shire, 1986;Janat & Shire, 1987;Shukri et al, 1988). Gonadal (Bailey, 1971(Bailey, , 1981.…”

Section: Introductionmentioning

confidence: 99%