The insertion of a neomycin selection cassette deleted the 5' untranslated region and exons 1 through 7, encoding the ATP-binding site and serine threonine consensus sequence. Northern blot analysis of total RNA obtained from heart tissue showed an absence of transcript in homozygous mutant mice. The absence of encoded protein was verified by Western blot analysis of muscle and heart tissue obtained from homozygous mutant mice. (J:33714)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S2/SvPas
Targeted
Insertion, Intragenic deletion
--
1
6
11

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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