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EN
ENU-induced C to T transition at base pair 50,950,923 (v38) on chromosome 14, or base pair 6,621 in the GenBank genomic region NC_000080 encoding Pnp. The mutation corresponds to residue 833 in the mRNA sequence NM_013632 within exon 5 of 6 total exons. The mutation results in substitution of arginine 185 for a premature stop codon (R185*) in the PNP protein. (J:265147)
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
