Mfsd8^{tm1c(EUCOMM)Hmgu}
Targeted Allele Detail

Summary

• Symbol: Mfsd8^{tm1c(EUCOMM)Hmgu}
• Name: major facilitator superfamily domain containing 8; targeted mutation 1c, Helmholtz Zentrum Muenchen GmbH
• MGI ID: MGI:6388451
• Synonyms: Mfsd8^tm1c
• Gene: Mfsd8 Location: Chr3:40772538-40801321 bp, - strand Genetic Position: Chr3, 19.55 cM, cytoband C
• Alliance: Mfsd8^{tm1c(EUCOMM)Hmgu} page
• IMPC: Mfsd8 gene page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:229309
• Parent Cell Line: JM8A3.N1 (ES Cell)
• Strain of Origin: C57BL/6N-A^tm1Brd
• Project Collection: EUCOMM

Mutation description

• Allele Type: Targeted (Conditional ready)
• Mutation: Insertion
• Mutation details: The L1L2_Bact_P cassette was inserted at position 40793589 of Chromosome 3 upstream of the critical exon(s) (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(s) at position 40794371. The critical exon(s) is/are thus flanked by loxP sites. A "conditional ready" (floxed) allele was created by flp recombinase expression in mice carrying this allele to remove the lacZ sequence and neo selection cassette, leaving loxP sites flanking the critical exon(s). Further information on targeting strategies used for this and other IKMC alleles can be found at http://www.informatics.jax.org/mgihome/nomen/IKMC_schematics.shtml (J:229309)

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 Mfsd8 Mutation: 27 strains or lines available

References

• Original: J:229309 Brandenstein L, et al., Lysosomal dysfunction and impaired autophagy in a novel mouse model deficient for the lysosomal membrane protein Cln7. Hum Mol Genet. 2016 Feb 15;25(4):777-91
• All: 1 reference(s)