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A point mutation of a T to an A at 919, that results in a Tyr to Asn amino acid change at residue 307 and a floxed neomycin cassette within intron 2 were inserted by homologous recombination. Quantitative real time PCR showed that mice expressed only 40% of the wild-type level of mRNA. Western blotting showed a reduction in the band intensity in brain, skeletal muscle and heart relative to wild-type. (J:164634)
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
