A point mutation (A to G) in exon 11 results in the amino acid susbtitution of threonine with alanine at position 699 (p.T699A) 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 11. (J:197489)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S4/SvJae
Targeted
Single point
--
1
3
2

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

References Literature

Title
PMID
Journal
Year
IF
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