Was^tm1Itl
Targeted Allele Detail

Summary

• Symbol: Was^tm1Itl
• Name: Wiskott-Aldrich syndrome; targeted mutation 1, inGenious Targeting Laboratory
• MGI ID: MGI:4362083
• Synonyms: Was^tm1Igl, Was^Y293E
• Gene: Was Location: ChrX:7947705-7956730 bp, - strand Genetic Position: ChrX, 3.65 cM
• Alliance: Was^tm1Itl page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:153247
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Not Specified)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: An frt and loxP flanked neo cassette was inserted downstream of exon 7. Exon 9 was replaced with one in which nucleotide substitution (TAC->GAA) results in the amino acid substitution of glutamic acid for tyrosine at position 293 (Y293E). This allele contains a phosphomimicking mutation. (J:153247)

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

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 Was Mutation: 12 strains or lines available

References

• Original: J:153247 Blundell MP, et al., Phosphorylation of WASp is a key regulator of activity and stability in vivo. Proc Natl Acad Sci U S A. 2009 Sep 15;106(37):15738-43
• All: 1 reference(s)