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EN
ENU-induced C to T transition at base pair 158,857,136 (v38) on chromosome 1, or base pair 123,392 in the GenBank genomic region NC_000067. The mutation corresponds to residue 2,432 in the mRNA sequence NM_001085376 within exon 4 of 22 total exons. The mutation results in a threonine to isoleucine substitution at position 811 (T811I) in the PAPP-A2 protein. (J:271980)
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
