Sh2d1a^tm1Pls

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Species

Mus musculus

Symbol

Sh2d1a^tm1Pls

Category

allele

Allele of gene

Sh2d1a

Transgenic Constructs

None

Synonyms

• SAP^-

Description

A splice mutation was introduced to the beginning of exon 3 along with an in-frame GFP-PGK-neo cassette. A threonine to isoleucine substitution at amino acid 68 (T68I), a mutation found in human X-linked lymphoproliferative disease (XLP) that inhibits protein binding, was also incorporated to ensure a null allele. Western blot analysis of thymocyte protein from homozygous mutant animals failed to detect a protein product. Antibodies against GFP also failed to detect a protein product.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations