| Help | About | Contact Us

Allele : Rac2<em1Shl> Rac family small GTPase 2; endonuclease-mediated mutation 1, Steven M Holland

Primary Identifier	MGI:6473850	Allele Type	Endonuclease-mediated
Attribute String	Humanized sequence	Gene	Rac2
Strain of Origin	C57BL/6	Is Recombinase	false
Is Wild Type	false

molecularNote

CRISPR/Cas9 technology generated a glutamate to lysine substitution at amino acid 62. The E62K mutation was identified in several patients with immunodeficiency 73B.

mutations:
Nucleotide substitutions

synonyms:
Rac2<E62K>,
Rac2<E62K>

earliestPublication:
Hsu AP, et al. (2019) Dominant activating RAC2 mutation with lymphopenia, immunodeficiency, and cytoskeletal defects. Blood 133(18):1977-1988

1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

Other

0 Carried By

0 Driven By

3 Publication categories

Questions? Comments? Click here!

MouseMine is a collaboration between MGI at The Jackson Laboratory and the InterMine project at the Cambridge Systems Biology Centre. MouseMine is funded through a grant from the NIH/NHGRI.The Jackson Laboratory makes no representation about the suitability or accuracy of this software or data for any purpose, and makes no warranties, either express or implied, including merchantability and fitness for a particular purpose or that the use of this software or data will not infringe any third party patents, copyrights, trademarks, or other rights. the software and data are provided "as is". This software and data are provided to enhance knowledge and encourage progress in the scientific community and are to be used only for research and educational purposes. Any reproduction or use for commercial purpose is prohibited without the prior express written permission of the Jackson Laboratory.

Your name:
Your email address:
Subject:
Message:	---- Current page: ---- /mousemine/report.do?id=76695530

MouseMine