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dc.contributor.authorSundberg, JPen
dc.contributor.authorDadras, SSen
dc.contributor.authorSilva, KAen
dc.contributor.authorKennedy, VEen
dc.contributor.authorGarland, Gen
dc.contributor.authorMurray, Sen
dc.contributor.authorSundberg, BAen
dc.contributor.authorSchofield, Paulen
dc.contributor.authorPratt, CHen
dc.date.accessioned2017-09-21T15:35:06Z
dc.date.available2017-09-21T15:35:06Z
dc.identifier.issn1932-6203
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/267332
dc.description.abstractThe International Knockout Mouse Consortium was formed in 2007 to inactivate (“knockout”) all protein-coding genes in the mouse genome in embryonic stem cells. Production and characterization of these mice, now underway, has generated and phenotyped 3,100 strains with knockout alleles. Skin and adnexa diseases are best defined at the gross clinical level and by histopathology. Representative retired breeders had skin collected from the back, abdomen, eyelids, muzzle, ears, tail, and lower limbs including the nails. To date, 169 novel mutant lines were reviewed and of these, only one was found to have a relatively minor sebaceous gland abnormality associated with follicular dystrophy. The B6N(Cg)-Far2tm2b(KOMP)Wtsi/2J strain, had lesions affecting sebaceous glands with what appeared to be a secondary follicular dystrophy. A second line, B6N(Cg)-Ppp1r9btm1.1(KOMP)Vlcg/J, had follicular dystrophy limited to many but not all mystacial vibrissae in heterozygous but not homozygous mutant mice, suggesting that this was a nonspecific background lesion. We discuss potential reasons for the low frequency of skin and adnexal phenotypes in mice from this project in comparison to those seen in human Mendelian diseases, and suggest alternative approaches to identification of human disease-relevant models.
dc.description.sponsorshipThis work was supported by grants from the National Institutes of Health (R21-AR063781 and U42-OD011185). Shared services at The Jackson Laboratory are subsidized by a National Cancer Institute Core Grant (P30-CA034196). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.
dc.publisherPublic Library of Science (PLoS)
dc.rightsAttribution 4.0 Internationalen
dc.rightsAttribution 4.0 Internationalen
dc.rightsAttribution 4.0 Internationalen
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/en
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/en
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/en
dc.titleSystematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse programen
dc.typeArticle
prism.publicationNamePLoS ONEen
dc.identifier.doi10.17863/CAM.11410
dcterms.dateAccepted2017-06-19en
rioxxterms.versionofrecord10.1371/journal.pone.0180682en
rioxxterms.versionVoR*
rioxxterms.licenseref.urihttp://creativecommons.org/licenses/by/4.0/en
rioxxterms.licenseref.startdate2017-06-19en
dc.contributor.orcidSchofield, Paul [0000-0002-5111-7263]
dc.identifier.eissn1932-6203
rioxxterms.typeJournal Article/Reviewen
cam.issuedOnline2017-07-10en


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Attribution 4.0 International
Except where otherwise noted, this item's licence is described as Attribution 4.0 International