A T to A nucleotide substitution resulting in an amino acid substitution of the fifth cysteine to serine at position 384 (p.C384S) in exon 11 was knocked into the open reading frame along with a floxed neo cassette that was then removed by cre-mediated recombination. This mutation eliminates one of this protein's three disulfide bridges and results in a selective deficiency in Saposin C. (J:283977)

Basic Information

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

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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