A neomycin resistance cassette replaced a 1.5kb region that includes exons 8 and 9, which encode amino acids 217-221 of the protein. This region includes the sequences containing the dual phosphorylation sites (serine and threonine) that are required for activation of the protein. Northern blot and Western blot analyses did not detect expression from this allele in homozygous mutant mice. (J:54309)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S1/Sv-Oca2+ Tyr+ Kitl+
Targeted
Insertion, Intragenic deletion
--
1
--
46

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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