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Targeted Allele Detail
Symbol: Itm2btm2.1Ldad
Name: integral membrane protein 2B; targeted mutation 2.1, Luciano D'Adamio
MGI ID: MGI:4415610
Synonyms: ADan, FDDKI, FDD-KI
Gene: Itm2b  Location: Chr14:73362231-73385271 bp, - strand  Genetic Position: Chr14, 38.88 cM
Germline Transmission:  Earliest citation of germline transmission: J:155411
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129
Allele Type:    Targeted
Mutation:    Insertion
Mutation detailsA decamer duplication in the 3' region of the gene, right before the stop codon within exon 6, that leads to the production of a longer, 277 aa protein was inserted. In addition a humanizing substitution A-G (acc-gcc = Threonine-Alanine) at the 12th codon of exon 6 was introduced. Western blot analysis detected marked expression of the mutant precursor protein. (J:155411)
View phenotypes 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
Carrying any Itm2b Mutation:  3 strains or lines available
Original:  J:155411 Giliberto L, et al., Generation and initial characterization of FDD knock in mice. PLoS One. 2009;4(11):e7900
All:  4 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 6.01
The Jackson Laboratory