|Institutional Source||Beutler Lab|
|Gene Name||integral membrane protein 2B|
|Synonyms||Bri2, D14Sel6, Bricd2b|
|Is this an essential gene?||Probably non essential (E-score: 0.235)|
|Stock #||R7151 (G1)|
|Chromosomal Location||73362226-73385289 bp(-) (GRCm38)|
|Type of Mutation||start gained|
|DNA Base Change (assembly)||C to A at 73368389 bp|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000153948 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000022704] [ENSMUST00000227454]|
|Predicted Effect||probably benign
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Amyloid precursor proteins are processed by beta-secretase and gamma-secretase to produce beta-amyloid peptides which form the characteristic plaques of Alzheimer disease. This gene encodes a transmembrane protein which is processed at the C-terminus by furin or furin-like proteases to produce a small secreted peptide which inhibits the deposition of beta-amyloid. Mutations which result in extension of the C-terminal end of the encoded protein, thereby increasing the size of the secreted peptide, are associated with two neurogenerative diseases, familial British dementia and familial Danish dementia. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a null mutation display increased levels of soluble APP fragments in the brain. Mice homozygous for a knock-in allele exhibit impaired oject recognition, impaired contextual conditioning, and impaired spatial working memory. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Itm2b||
(F):5'- GGCAGGGACCGTATTCTAATTC -3'
(R):5'- GCTCCAGACACTGTTAGTCG -3'
(F):5'- TGGGAATCCAATCTCTAGGACGTAC -3'
(R):5'- AGAAGGCTGCCTAGAGGTCTC -3'