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Allele : Was<tm1Lisw> Wiskott-Aldrich syndrome; targeted mutation 1, Lisa S Westerberg

Primary Identifier	MGI:6363559	Allele Type	Targeted
Attribute String	Constitutively active	Gene	Was
Transmission	Germline	Strain of Origin	C57BL/6
Is Recombinase	false	Is Wild Type	false

molecularNote

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.

mutations:
Nucleotide substitutions

cellLines:
Not Specified

synonyms:
WASp<L272P>,
WASp<L272P>

earliestPublication:
Kuznetsov NV, et al. (2017) Nuclear Wiskott-Aldrich syndrome protein co-regulates T cell factor 1-mediated transcription in T cells. Genome Med 9(1):91

1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

Other

0 Carried By

0 Driven By

5 Publication categories

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