ENU mutagenesis induced a T to C transition at base pair 46,409,692 (v38) on chromosome 17, or base pair 26,191 in the GenBank genomic region NC_000083 encoding Zfp318. The mutation corresponds to residue 3,428 in the mRNA sequence NM_207671 within exon 8 of 10 total exons. The mutation results in a tyrosine (Y) to histidine (H) substitution at position 1119 (Y1119H) in the long isoform of the ZFP318 protein. (J:218965)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
Semidominant
1
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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

References Literature

Title
PMID
Journal
Year
IF
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