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. (J:70032)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S6/SvEvTac
Targeted
Insertion, Nucleotide substitutions
--
1
1
69

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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