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EN
ENU-induced C to T transition at base pair 19,957,218 (v38) on chromosome 16, or base pair 25,832 in the GenBank genomic region NC_000082 encoding Klhl6. The mutation corresponds to residue 635 in the mRNA sequence NM_183390 within exon 3 of 7 total exons. The mutation results in substitution of glutamine 197 for a premature stop codon (Q197*) in the KLHL6 protein. (J:265167)
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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References Literature
Title
PMID
Journal
Year
IF
