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EN
ENU-induced C to T transition at base pair 46,769,351 (v38) on chromosome 7, or base pair 26,714 in the GenBank genomic region NC_000073. The mutation corresponds to residue 2,972 in the mRNA sequence NM_001005248 within exon 17 of 23 total exons. The mutation results in substitution of glutamine (Q) 832 for a premature stop codon (Q832*) in isoform 1 or Q798* in isoform 2 of the protein. (J:255198)
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
