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EN
ENU-induced G to A transition at base pair 113,773,388 (v38) on chromosome 6, or base pair 269,226 in the GenBank genomic region NC_000072. The mutation corresponds to residue 2,502 in the mRNA sequence NM_009723 (variant 1) within exon 13 of 22 total exons. The mutation results in an arginine to histidine substitution at position 625 (R625H) in the plasma membrane calcium (Ca2+)-ATPase, type 2 (PMCA2) protein (isoform 1). (J:271981)
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
