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EN
ENU-induced A to G transition at base pair 65,314,587 (v38) on chromosome 4, or base pair 190,414 in the GenBank genomic region NC_000070. The mutation corresponds to residue 4,330 in the mRNA sequence NM_021362 within exon 16 of 22 total exons. The mutation results in an asparagine to serine substitution at position 1,321 (N1321S) in the PAPP-A protein. (J:272860)
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
