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Phenotype Image Detail
Image
Caption A) A comparison of newborn (P1) wild-type, Rhbdf1tm1b(EUCOMM)Wtsi/Rhbdf1tm1b(EUCOMM)Wtsi Rhbdf2tm1Mak/Rhbdf2tm1Mak (iR1/2-/-), Adam17tm1.1Bbl/Adam17tm1.1Bbl (Adam17-/-), Rhbdf1tm1b(EUCOMM)Wtsi/Rhbdf1tm1b(EUCOMM)Wtsi (iR1-/-), or Rhbdf2tm1Mak/Rhbdf2tm1Mak (iR2-/-) mice, which appeared similar except for the open eyes at birth (OEB) in Rhbdf1tm1b(EUCOMM)Wtsi/Rhbdf1tm1b(EUCOMM)Wtsi Rhbdf2tm1Mak/Rhbdf2tm1Mak and Adam17tm1.1Bbl Adam17tm1.1Bbl mice (arrows). (B and C) The OEB phenotype (arrows) is shown on macroscopic images of the head (B) and histological sections (C). (D) Aortic valve sections (arrows). (E) Sections through the femoral growth plate (the thickness of the hypertrophic zone is indicated by yellow lines). In all cases, the defects observed in double knockout mice (OEB, enlarged aortic valve, thickened zone of hypertrophic chondrocytes) closely resembled those in Adam17tm1.1Bbl/Adam17tm1.1Bbl mice, whereas Rhbdf1tm1b(EUCOMM)Wtsi/Rhbdf1tm1b(EUCOMM)Wtsi and Rhbdf2tm1Mak/Rhbdf2tm1Mak mice appeared normal.
Copyright This image is from Li X, Proc Natl Acad Sci U S A 2015 May 12;112(19):6080-5. Copyright 2015 National Academy of Sciences, U.S.A. J:221411
Associated
Alleles
Symbol Name
Adam17tm1.1Bbl a disintegrin and metallopeptidase domain 17; targeted mutation 1.1, Carl P Blobel
Rhbdf1tm1b(EUCOMM)Wtsi rhomboid 5 homolog 1; targeted mutation 1b, Wellcome Trust Sanger Institute
Rhbdf2tm1Mak rhomboid 5 homolog 2; targeted mutation 1, Tak Mak
Associated
Genotypes
Allelic Composition Genetic Background
Rhbdf1tm1b(EUCOMM)Wtsi/Rhbdf1tm1b(EUCOMM)Wtsi
Rhbdf2tm1Mak/Rhbdf2tm1Mak
involves: 129P2/OlaHsd * C57BL/6 * C57BL/6N * FVB/N
Adam17tm1.1Bbl/Adam17tm1.1Bbl involves: 129P2/OlaHsd * C57BL/6 * FVB/N

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
06/12/2024
MGI 6.13
The Jackson Laboratory