ENU-induced A to G transition at base pair 101,186,764 (v38) on chromosome 11, or base pair 12,116 in the GenBank genomic region NC_000077. The mutation corresponds to residue 3,392 in the mRNA sequence NM_016782 within exon 19 of 24 total exons. The mutation results in a glutamic acid (E) to glycine (G) substitution at position 1,084 (E1084G) in the protein. (J:255017)

Basic Information

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