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A region of exon 11 encoding amino acids 448-474, including the catalytic phosphorylation site (aspartic acid 465), was replaced with a neomycin resistance gene. Northern blot showed no reduction in mRNA levels in mutant mice. Exon-11-deficient mice express a mutant PMCA4 mRNA as a consequence of exon-10 splicing to exon-12, which preserves the reading frame and enables these mice to produce functionless mutant PMCA4a and PMCA4b proteins (devoid of a catalytic site). (J:91844, J:210683)
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
