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An amino acid substitution was introduced into the saposin A domain of the gene utilizing a Cre/loxP system. Specifically, the mutation was introduced into exon 4 of the gene, changing the fourth cysteine in the saposin A domain to phenylalanine (C106F). This resulted in the loss of one of three conserved disulfide bonds within the protein. Animals carrying this allele produced stable mRNA of normal length. (J:78223)
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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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
