mgijax / mammalian-phenotype-ontology

Standard terms for annotating mammalian phenotypic data
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why are MP:0003122 maternal imprinting and MP:0003123 paternal imprinting phenotypes? #3995

Closed LaurensWilming closed 3 months ago

LaurensWilming commented 3 months ago

Why are MP:0003122 maternal imprinting and MP:0003123 paternal imprinting phenotypes? Maternal and paternal imprinting is supposed to happen! If it doesn't, you're in big trouble. So it should really be: MP:0003122 abnormal maternal imprinting MP:0003123 abnormal paternal imprinting as children of MP:0003787 abnormal imprinting with the definitions updated accordingly.

Or am I missing something?

sbello commented 3 months ago

maternal and paternal imprinting were added back when MGI decided not to have maternal and paternal versions of alleles. These are meant to indicate that the phenotypes of the mouse vary with maternal/paternal inheritance. Really these shouldn't be phenotypes but we stuck this in to be able to find these types of genotypes. Much like 'no phenotypic analysis' it would be good to come up with a different solution and obsolete these terms. The placement of these based on the definitions is incorrect. These should be moved up to just under cellular phenotype.

sbello commented 3 months ago

removed the parent 'abnormal epigenetic regulation of gene expression'

sbello commented 3 months ago

genetic imprinting is defined as abnormal but the label could be interpreted as normal and this has an abnormal imprinting child term. I believe this was intended to be a normal

anna-anagnostop commented 3 months ago

Modified textual def of genetic imprinting to "the process that modulates the frequency, rate or extent of the chemical reactions and pathways involving macromolecules by a mechanism that is mediated by DNA, is mitotically or meiotically heritable, or is stably self-propagated in the cytoplasm of a resting cell, and does not entail a change in DNA sequence" to match the term label better