Itm2b^tm2.1Ldad
Targeted Allele Detail

Summary

• Symbol: Itm2b^tm2.1Ldad
• Name: integral membrane protein 2B; targeted mutation 2.1, Luciano D'Adamio
• MGI ID: MGI:4415610
• Synonyms: ADan, FDD^KI, FDD-KI
• Gene: Itm2b Location: Chr14:73599666-73622729 bp, - strand Genetic Position: Chr14, 38.88 cM
• Alliance: Itm2b^tm2.1Ldad page

Signs of melanosis in the meninges of the olfactory bulb and mineralization in the thalamus of Itm2b^tm2.1Ldad/Itm2b^tm2.1Ldad mice

Show the 1 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:155411
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129

Mutation description

Allele Type: Targeted (Humanized sequence, Inserted expressed sequence) Mutation: Insertion Mutation details: A 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)

Generation of the Itm2b^tm2.1Ldad allele

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:155411 Giliberto L, et al., Generation and initial characterization of FDD knock in mice. PLoS One. 2009;4(11):e7900
• All: 5 reference(s)