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A point mtuation (A to G) in exon 11 results in the amino acid substitution of threonine with alanine at position 706 (p.T706A) in the encoded protein. This mutation creates a PP1 analog-sensitive protein. Cre-mediated recombination removed the loxP site flanked neomycin resistance gene cassette inserted into intron 9. (J:197489)
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
