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EN
This ENU-induced A to T transversion of nucleotide 167 of the coding sequence results in a histidine to leucine change at amino acid 56, a highly conserved residue in vertebrates. This mutation increases the serine palmitoyltransferase (SPT) affinity toward the C18 fatty acyl-CoA substrate by twofold and elevates 20-carbon (C20) long chain base (LCB) production in the mutant mouse brain and eye.
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
