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Cysteine codon 129 (TGT) in exon 5 was changed to serine (TCC) (p.C129S) and a loxP site, tACE-Cre (Cre gene driven by the testis-specific angiotensin I converting enzyme gene promoter), a neomycin resistance gene cassette and a second loxP site were inserted into intron 5. The neo cassette was self-excised through testis-expressed Cre-mediated recombination. The mutation leads to reduced catalytic activity of the encoded peptide. (J:342728)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
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 |
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References Literature
Title
PMID
Journal
Year
IF
