A catalytically inactive allele of the gene was introduced via transgene insertion. The transgene includes exons 1-12, 240 bp of endogenous promoter sequence, a lysine to arginine substitution at codon 273 (K273R), and a fusion to the 3' untranslated region of the human growth hormone gene. To maximize transgene expression, 125 bp of exon 1, which encodes 5' untranslated sequences known to reduce translational efficiency, were removed. The endogenous promoter was used to direct transgene expression in the thymus. (J:76887)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
(C57BL/6J x DBA/2J)F2
--
Insertion
--
1
--
2

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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