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EN
A Neo cassette was inserted into exon 2, replacing nucleotides 6487518-6488270 of GenBank NT_039477.6. This replacement resulted in the deletion of nearly half of the coding region, 753 bp, and included a DWE amino acid sequence. Western blot analysis confirmed absence of protein and HA zymography of serum showed no detectable hyaluronidase activity in homozygotes. (J:136860)
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
