Log In|Sign Up
EN
ENU-induced G to T transversion at base pair 94,347,670 (v38) on chromosome 15, or base pair 84,405 in the GenBank genomic region NC_000081. The mutation corresponds to residue 2,011 in the mRNA sequence NM_177431 (isoform 1) within exon 12 of 39 total exons. The mutation results in substitution of glutamic acid 584 for a premature stop codon (E584*) in both Adamts20 protein variants. (J:264701)
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：
Show/Hide columns
| Phenotypes |
|---|
References Literature
Title
PMID
Journal
Year
IF
