将一个Neo cassette插入了GenBank NT_039477.6的exon 2,替换掉了6487518-6488270的核苷酸序列。这个替换导致了编码区域几乎一半(753bp)的丢失,并包含了一个DWE氨基酸序列。 Western blot实验确认了没有蛋白质产生,而血清的HAzymography则未检测到纯合子的透明质酸酶活性。(来源:J:136860)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129X1/SvJ
Targeted
插入,基因内删除
--
1
1
9

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:
Show/Hide columns
Phenotypes

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
微信
信息比对
科研助手
使用教程
回到顶部