Ldlr^tm1(LDLR)Mae
Targeted Allele Detail

Summary

• Symbol: Ldlr^tm1(LDLR)Mae
• Name: low density lipoprotein receptor; targeted mutation 1, Nobuyo Maeda
• MGI ID: MGI:3691296
• Synonyms: hLDLR, LDLR^h
• Gene: Ldlr Location: Chr9:21634872-21661215 bp, + strand Genetic Position: Chr9, 7.87 cM
• Alliance: Ldlr^tm1(LDLR)Mae page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:67282
• Parent Cell Line: TC1/TC-1 (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

• Allele Type: Targeted (Humanized sequence, Inserted expressed sequence)
• Mutation: Insertion
• Mutation details: About 8 kb of sequence spanning 3' of intron 1 through exon 4 was replaced with the human LDLR minigene containing exons 2-18 of human sequence. The minigene was shortened by a deletion of two of the three 3' AU-rich elements in exon 18. The mature protein transcribed from the chimeric gene was entirely human protein, due to exon 1 encoding only the signal peptide. (J:67282)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any Ldlr Mutation: 81 strains or lines available

References

• Original: J:67282 Knouff C, et al., Doubling expression of the low density lipoprotein receptor by truncation of the 3'-untranslated region sequence ameliorates type iii hyperlipoproteinemia in mice expressing the human apoe2 isoform. J Biol Chem. 2001 Feb 9;276(6):3856-62
• All: 11 reference(s)