These Was knock-out mice exhibit reduced peripheral blood lymphocyte counts and platelet numbers along with development of chronic colitis. They are suitable for use in applications related to the study of Wiskott-Aldrich syndrome in humans.
Dr. Frederick W. Alt, Children's Hospital
WAS-deficient mice are viable and fertile. Mutant mice show normal lymphocyte development, serum immunoglobulin (Ig) levels and antibody responses. However, peripheral blood lymphocyte counts and platelet numbers are reduced in these mice. Development of chronic colitis is also observed. In vitro, WAS-deficient T cells show markedly impaired proliferative responses to anti-CD3e mediated stimulation. The Was gene is X-linked, so hemizygous males are WAS deficient.
|Allele Name||targeted mutation 1, Scott B Snapper|
|Allele Type||Targeted (Null/Knockout)|
|Allele Synonym(s)||Was-; wasp-|
|Gene Symbol and Name||Was, Wiskott-Aldrich syndrome|
|Strain of Origin||129S6/SvEvTac|
|Molecular Note||A neomycin cassette was inserted into exon 7, which encodes part of the GTPase-binding domain. The absence of transcript and protein produced from the targeted allele in male hemizygous mutant mice was confirmed by Northern blot and Western blot analyses.|
|Mutations Made By|| |
Dr. Scott Snapper, Massachusetts General Hospital