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A nucleotide substitution resulting in the amino-acid substitution of the fourth cysteine to phenylalanine in exon 7 was knocked into the open reading frame along with a floxed neo cassette that was subsequently removed by germ line, cre-mediated recombination. The absence of saposin B was confirmed by western blot analysis on liver extracts but the expression of saposin A, C and D (the other forms post-translationally generated from this locus) was not affected. (J:137650)
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
