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Mfsd2aem1Chgu
Endonuclease-mediated Allele Detail
Summary
Symbol: Mfsd2aem1Chgu
Name: MFSD2 lysolipid transporter A, lysophospholipid; endonuclease-mediated mutation 1, Chenghua Gu
MGI ID: MGI:6120542
Synonyms: Mfsd2aD96A
Gene: Mfsd2a  Location: Chr4:122840643-122854981 bp, - strand  Genetic Position: Chr4, 57.34 cM, cytoband D1
Alliance: Mfsd2aem1Chgu page
Mutation
origin
Strain of Origin:  (C57BL/6J x SJL/J)F1/J
Mutation
description
Allele Type:    Endonuclease-mediated (Not Applicable)
Mutation:    Single point mutation
 
Mutation detailsAn A to C mutation resulting in a D96A substitution was inserted in exon 3 by CRISPR/Cas9 mediated recombination. Immunohistochemical and western blot analysis indicated no change in protein expression in the brains of homozygous mice compared to wild-type controls. Altered lipid profiles in the brains of homozygotes indicate this mutation abolishes the lipid transport function of the gene. (J:256030)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Mfsd2a Mutation:  37 strains or lines available
References
Original:  J:256030 Andreone BJ, et al., Blood-Brain Barrier Permeability Is Regulated by Lipid Transport-Dependent Suppression of Caveolae-Mediated Transcytosis. Neuron. 2017 May 3;94(3):581-594.e5
All:  1 reference(s)

Contributing Projects:
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
05/21/2024
MGI 6.23
The Jackson Laboratory