NTRs lipid rafts, desmosomes, and other membrane terms #2016
Description
From: Melissa Berry [email protected]
Date: Wednesday, February 11, 2015 11:43 AM
To: Cynthia Smith [email protected]
Subject: MP term request: abnormal gap junctions etc
Howdy Cindy, I hope you are enjoying your time away from the cold and snow. It should be over by your return.
I need some MP terms for mutants with defective desmosomes, tight junctions, and gap junctions. Abnormal hemidesmosome might also be added. I think these are children or grandchildren of Abnormal Plasma Membrane Morphology.
We have abnormal cardiac desmosomes, but desmosomes are also epithelial (significant in epidermis) so should we instead of making a child of abnormal plasma membrane morphology make abnormal epithelial desmosomes? I don’t think so, but this hierarchy is not my bailiwick. I’m tacking this onto the request for abnormal lipid rafts, which would also fall under Abnormal Plasma Membrane Morphology.
(note to self: Dsp)
From: Melissa Berry [email protected]
Date: Friday, November 21, 2014 at 3:35 PM
To: Cynthia Smith [email protected]
Subject: lipid rafts, MP area for consideration
I have 2 alleles in a related pathway that have been found to have diminished lipid rafts in extracts from tissues with vacuoles. See
http://en.wikipedia.org/wiki/Lipid_raft
I can’t find a reasonable MP term under which to couch this. When you pubmed lipid raft you get some interesting findings that suggest we might want this term included in the MP.
Abnormal Plasma Membrane Morphology is maybe the closest, but the prep includes more than the plasma membranes and the deficiency is tissue-specific. There is no parent “abnormal membrane morphology” for abnormal plasma membrane morphology and eventually there should be since there are so many children for such a parent.
Abnormal testes morphology is another option for dal since that is where the deficiency is. For Atrn the diminished lipid rafts are associated with the vacuoles in brain tissue so I could couch it there for now, but you might want to consider expanding the Abnormal Cell Morphology MP to cover altered lipid rafts. In this instance they did not assess by sphingomyelin so I can’t tag that.
Maybe Abnormal lipid homeostatis is what I should tag? What do you think? Should I go as low as abnormal lipid level when it is so tissue specific? No animal-wide defect in lipids are found, just the tissues with the vacuoles.
Reported by: cindyJax
Original Ticket: obo/mammalian-phenotype-requests/2016