Was^tm1Lisw
Targeted Allele Detail

Summary

• Symbol: Was^tm1Lisw
• Name: Wiskott-Aldrich syndrome; targeted mutation 1, Lisa S Westerberg
• MGI ID: MGI:6363559
• Synonyms: WASp^L272P
• Gene: Was Location: ChrX:7947705-7956730 bp, - strand Genetic Position: ChrX, 3.65 cM
• Alliance: Was^tm1Lisw page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:279178
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Targeted (Constitutively active)
• Mutation: Nucleotide substitutions
• Mutation details: A TT>CC mutation was generated in exon 9 to change leucine codon 272 (TTG) to proline (CCG) (p.Leu272Pro). This mutation corresponds to the p.L270P mutation found in human X-linked neutropenia patients. (J:279178)

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: 10 strains or lines available

References

• Original: J:279178 Kuznetsov NV, et al., Nuclear Wiskott-Aldrich syndrome protein co-regulates T cell factor 1-mediated transcription in T cells. Genome Med. 2017 Oct 27;9(1):91
• All: 3 reference(s)