Phenotype Image Detail

Image

Caption

A) A comparison of newborn (P1) wild-type, Rhbdf1^{tm1b(EUCOMM)Wtsi}/Rhbdf1^{tm1b(EUCOMM)Wtsi} Rhbdf2^tm1Mak/Rhbdf2^tm1Mak (iR1/2-/-), Adam17^tm1.1Bbl/Adam17^tm1.1Bbl (Adam17-/-), Rhbdf1^{tm1b(EUCOMM)Wtsi}/Rhbdf1^{tm1b(EUCOMM)Wtsi} (iR1-/-), or Rhbdf2^tm1Mak/Rhbdf2^tm1Mak (iR2-/-) mice, which appeared similar except for the open eyes at birth (OEB) in Rhbdf1^{tm1b(EUCOMM)Wtsi}/Rhbdf1^{tm1b(EUCOMM)Wtsi} Rhbdf2^tm1Mak/Rhbdf2^tm1Mak and Adam17^tm1.1Bbl Adam17^tm1.1Bbl 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 Adam17^tm1.1Bbl/Adam17^tm1.1Bbl mice, whereas Rhbdf1^{tm1b(EUCOMM)Wtsi}/Rhbdf1^{tm1b(EUCOMM)Wtsi} and Rhbdf2^tm1Mak/Rhbdf2^tm1Mak mice appeared normal.

Associated
Alleles

Symbol	Name
Adam17^tm1.1Bbl	a disintegrin and metallopeptidase domain 17; targeted mutation 1.1, Carl P Blobel
Rhbdf1^{tm1b(EUCOMM)Wtsi}	rhomboid 5 homolog 1; targeted mutation 1b, Wellcome Trust Sanger Institute
Rhbdf2^tm1Mak	rhomboid 5 homolog 2; targeted mutation 1, Tak Mak

Associated
Genotypes

Allelic Composition	Genetic Background
Rhbdf1^{tm1b(EUCOMM)Wtsi}/Rhbdf1^{tm1b(EUCOMM)Wtsi} Rhbdf2^tm1Mak/Rhbdf2^tm1Mak	involves: 129P2/OlaHsd * C57BL/6 * C57BL/6N * FVB/N
Adam17^tm1.1Bbl/Adam17^tm1.1Bbl	involves: 129P2/OlaHsd * C57BL/6 * FVB/N

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