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Allele : Sh2d1a<tm1Pls> SH2 domain containing 1A; targeted mutation 1, Pamela L Schwartzberg

Primary Identifier  MGI:2388241 Allele Type  Targeted
Attribute String  Null/knockout Gene  Sh2d1a
Transmission  Germline Strain of Origin  129S6/SvEvTac
Is Recombinase  false Is Wild Type  false
molecularNote  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.
  • mutations:
  • Nucleotide substitutions,
  • Insertion
  • synonyms:
  • SAP<->,
  • SAP<->
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

5 Carried By

Trail: Allele

0 Driven By

72 Publication categories

Trail: Allele