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Phenotype Image Detail
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Caption Morphological developmental abnormalities in Cyp51tm1.1Bfro/Cyp51tm1.1Bfro (-/-) embryos. A, The mutant embryos were first distinguished at E11.5-E12.5 by kinked and short tails (arrow). Nuchal translucence extending dorsolaterally from the nuchal region was observed in knock-out embryos from stage E12.5 to lethality that occurred at E15.0. At stage E15.5, all knock-out embryos were in an advanced stage of resorption (right most knock-out embryo). B, example of nuchal translucence with hemorrhages (arrow) at E14.5. C, variable phenotypes, ranging from mild to severe (left-right), of soft tissue syndactyly in the right hindlimb at E14.5. D, representative limb skeletal abnormalities demonstrated by Alcian blue dye staining. Micromelia (shortened limbs) was observed in all examined specimens. Radius and tibia were shortened and bowed (arrows). High magnification demonstrated signs of femuro-tibial synostosis (arrow). E, tarsal and carpal elements were underdeveloped and distal phalanges were absent. Joining of fingers or toes (syndactyly) was a prominent feature as well as post-axial polydactyly. Camptodactyly was most obvious in the left forelimb. FL, forelimb; HL, hindlimb (left/right). F, gross histological examination of embryos at E14.5. Extended subcutaneous, under-development of tongue, and absence of palatal shelf bone (arrow) was visible in knock-out embryos. G, the most prominent head abnormality, micrognathia, is shown in Alcian blue-stained specimens. Arrow points to the tongue in a wild-type embryo. The tongue did not develop normally in knock-out embryos. Scale bars indicate 1 mm. Wild-type, heterozygous, and knock-out embryos are designated +/+, +/-, and -/-, respectively.
Copyright This image is from Keber R, J Biol Chem 2011 Jun 25;(): and is displayed with the permission of the American Society for Biochemistry and Molecular Biology who owns the Copyright. Full text from JBC. J:173366
Associated
Alleles
Symbol Name
Cyp51tm1.1Bfro cytochrome P450, family 51; targeted mutation 1.1, Simon Horvat
Associated
Genotypes
Allelic Composition Genetic Background
Cyp51tm1.1Bfro/Cyp51tm1.1Bfro involves: 129P2/OlaHsd * C57BL/6

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last database update
04/23/2024
MGI 6.23
The Jackson Laboratory