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EN
The Ednrb mutation is a G to A transition at base pair 103820013 (v38) on Chromosome 14, or base pair 24,161 in the GenBank genomic region NC_000080 encoding Ednrb. Themutation corresponds to residue 1,337 in the mRNA sequence NM_007904.4(ENSMUST00000172237) within exon 6 of 7 total exons or residue 1,523 inthe mRNA sequence NM_001136061.2 (ENSMUST00000022718) within exon 7 of 8 total exons. The mutation results in a glycine (G) to aspartic acid (D) substitution at amino acid 371 in both endothelin receptor type B (ETBR) isoforms. (J:202015)
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
