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EN
ENU-induced C to A transversion at base pair 11,879,496 (v38) on chromosome 13, or base pair 227,450 in the GenBank genomic region NC_000079. The mutation corresponds to residue 1,054 in the mRNA sequence NM_023868 within exon 8 of 105 total exons. The mutation results in a serine to arginine substitution at position 185 (S185R) in the RYR2 protein. (J:267529)
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
