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CRISPR/Cas9 technology generated a CC to GA change resulting in a proline to aspartate substitution at amino acid 1244 (P1244D) as well as a C to T change resulting in an alanine to valine substitution at amino acid 1245 (A1245V). These mutations abolish the key cleavage site and make the protein uncleavable by ADAMTS-3. (J:293055)
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
