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EN
ENU-induced G to A transition at base pair 17,281,044 (v38) on chromosome 16, or base pair 125,271 in the GenBank genomic region NC_000082 encoding Pi4ka. The mutation corresponds to residue 6,053 in the mRNA sequence NM_001001983 within exon 53 of 55 total exons. The mutation results in an arginine (R) to histidine (H) substitution at position 1,992 (R1992H) in the PI4KA protein. (J:265261)
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
