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A PGK-neo replaced exons 10-12. Exon 11 contains the active site of the metalloprotease domain. The construct generated a frame shift, thereby allowing mutants to express only an N-terminal truncated protein. RT-PCR failed to detect wild-type transcript in mutants. An alternatively spliced isoform lacking the metalloprotease and disintegrin domains also failed to be detected. (J:106261)
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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References Literature
Title
PMID
Journal
Year
IF
