A neomycin selection cassette replaced sequences encoding the first ATP binding domain and a transmembrane domain. An additional integration event 3' to the gene caused a duplication of the gene between exons 9 to 27. Northern blot analysis indicated that no transcript was detectable from this allele in RNA derived from heart or skeletal muscle in homozygous mice. No protein activity was detected in cardiac myocytes or in skeletal muscle of homozygous mice. (J:71840)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Not Specified
Targeted
Duplication, Insertion, Intragenic deletion
--
1
12
13

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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