在exon 7的第四组 cysteine 被苯丙氨酸替换的核苷酸突变,与一个附有floxed neo cassette的开放阅读框一起被敲入,然后通过生殖细胞的cre介导重组被去除。通过Western blot在肝脏提取物中确认了saposin B的缺失,但saposin A、C和D(这个位点经翻译后生成的其他形式)的表达未受影响。(来源:J:137650)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S/SvEv
Targeted
Insertion, Nucleotide substitutions
--
1
12
3

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

References Literature

Title
PMID
Journal
Year
IF
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