A 1.2 kb region of the gene spanning part of exon 5, intron 5, exon 6, and part of exon 6 was replaced with a neo resistance cassette via homologous recombination thus deleting the active site of exon 6 and results in the loss of protein cross-linking activity. Western blot of liver, thymus, brain, and erythrocyte samples and RT-PCR analysis of thymus from homozygous mutant animals verified the absence of gene expression. However, residual enzyme activity was detected in some tissues which the authors speculate may be attributed to Tgase1. (J:67573)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Not Specified
Targeted
Insertion, Intragenic deletion
--
1
--
48

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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