Itm2b^tm3.1Ldad
Targeted Allele Detail

Summary

• Symbol: Itm2b^tm3.1Ldad
• Name: integral membrane protein 2B; targeted mutation 3.1, Luciano D'Adamio
• MGI ID: MGI:4867871
• Synonyms: Bri2^tABri, FBD^KI
• Gene: Itm2b Location: Chr14:73599666-73622729 bp, - strand Genetic Position: Chr14, 38.88 cM
• Alliance: Itm2b^tm3.1Ldad page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:166696
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: Exon 6 was replaced with one in which nucleotide substitutions result in the introduction of an XbaI site at nucleotide 799 and the amino acid substitution of arginine for a stop codon at position 267 (X267R) recapitulating the familial British dementia (FBD) mutation and alanine for threonine at the 12th codon of exon 6 to humanize the sequence. A neo cassette inserted upstream of the modified exon 6 was removed by cre-mediated recombination. (J:166696)

Disease models

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 Itm2b Mutation: 18 strains or lines available

References

• Original: J:166696 Tamayev R, et al., Memory deficits due to familial British dementia BRI2 mutation are caused by loss of BRI2 function rather than amyloidosis. J Neurosci. 2010 Nov 3;30(44):14915-24
• All: 2 reference(s)