ENU mutagenesis induced a T to A transversion at base pair 59,548,476 (v38) on chromosome 11, or base pair 6,908 in the GenBank genomic region NC_000077. The mutation corresponds to residue 1,104 in the mRNA sequence NM_145827 within exon 4 of 10 total exons. The mutation results in an isoleucine (I) to asparagine (N) substitution at position 293 (I293N) in the protein, and is strongly predicted by Polyphen-2 to cause loss of function (score = 0.991). (J:217294)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
单点
半显性
1
7
--

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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