Itm2btm3.1Ldad
Targeted Allele Detail
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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: Chr14:73599666-73622729 bp, - strand Genetic Position: Chr14, 38.88 cM
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Alliance: |
Itm2btm3.1Ldad page
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Germline Transmission: |
Earliest citation of germline transmission:
J:166696
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Parent Cell Line: |
Not Specified (ES Cell)
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Strain of Origin: |
129
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Allele Type: |
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Targeted (Humanized sequence) |
Mutations: |
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Insertion, Nucleotide substitutions
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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)
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View phenotypes and curated references for all genotypes (concatenated display).
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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
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Carrying any Itm2b Mutation: |
18 strains or lines available
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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: |
3 reference(s) |
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