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EN
ENU-induced C to T transition at base pair 119,538,137 (v38) on chromosome 8, or base pair 20,689 in the GenBank genomic region NC_000074. The mutation corresponds to residue 1,609 in the mRNA sequence NM_019709 within exon 9 of 24 total exons. The mutation results in a proline to serine substitution at position 341 (P341S) in the Site 1 protease (S1P) protein. (J:274663)
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
