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Targeted Allele Detail
Symbol: Itm2btm3.1Ldad
Name: integral membrane protein 2B; targeted mutation 3.1, Luciano D'Adamio
MGI ID: MGI:4867871
Synonyms: Bri2tABri, FBDKI
Gene: Itm2b  Location: Chr14:73362231-73385271 bp, - strand  Genetic Position: Chr14, 38.88 cM
Germline Transmission:  Earliest citation of germline transmission: J:166696
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129
Allele Type:    Targeted
Mutations:    Insertion, Nucleotide substitutions
Mutation detailsExon 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 huminize the sequence. A neo cassette inserted upstream of the modified exon 6 was removed by cre-mediated recombination. (J:166696)
View phenotypes for all genotypes (concatenated display).
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:  3 strains or lines available
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)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.0
The Jackson Laboratory