Mfsd1^{tm1d(KOMP)Wtsi}
Targeted Allele Detail

Summary

• Symbol: Mfsd1^{tm1d(KOMP)Wtsi}
• Name: major facilitator superfamily domain containing 1; targeted mutation 1d, Wellcome Trust Sanger Institute
• MGI ID: MGI:6379069
• Gene: Mfsd1 Location: Chr3:67490101-67511564 bp, + strand Genetic Position: Chr3, 31.07 cM, cytoband E2
• Alliance: Mfsd1^{tm1d(KOMP)Wtsi} page

Mutation origin

• Mutant Cell Line: EPD0728_5_G03
• Germline Transmission: Earliest citation of germline transmission: J:280713
• Parent Cell Line: JM8A3.N1 (ES Cell)
• Strain of Origin: C57BL/6N-A^tm1Brd

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion Vector: L1L2_Bact_P
• Mutation details: The L1L2_Bact_P cassette was inserted at position 67492492 of Chromosome 3 upstream of the critical exon 3 (Build GRCm39). The cassette is composed of an FRT site followed by lacZ sequence and a loxP site. This first loxP site is followed by a neomycin resistance gene under the control of the human beta-actin promoter, SV40 polyA, a second FRT site and a second loxP site. A third loxP site is inserted downstream of the targeted exon 3 at position 67493280. The critical exon 3 is thus flanked by loxP sites. Flp-mediated recombination removed the lacZ sequence and cre-mediated recombination removed the critical exon 3 in the germline. (J:280713)

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

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 Mfsd1 Mutation: 23 strains or lines available

References

• Original: J:280713 Massa Lopez D, et al., The lysosomal transporter MFSD1 is essential for liver homeostasis and critically depends on its accessory subunit GLMP. Elife. 2019 Oct 29;8:e50025
• All: 1 reference(s)