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EN
ENU-induced T to C transition at base pair 103,821,714 (v38) on chromosome 14, or base pair 22,763 in the GenBank genomic region NC_000080 encoding Ednrb. The mutation corresponds to residue 1,286 in the mRNA sequence NM_001136061.2 within exon 5 of 8 total exons. The mutation results in a phenylalanine to serine substitution at amino acid 292 (F292S) in both endothelin receptor type B (ETBR) isoforms. (J:264716)
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
