400 bp of the gene including part of exon 2, exon 3, and the translation initiation codon was replaced with a hygromycin resistance cassette via homologous recombination. Northern blot analysis detected mutant transcripts in cardiac and skeletal muscle of homozygous mutant animals, but Western blot analysis of the same tissues demonstrated the absence of protein product. (J:76886)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd
Targeted
Insertion, Intragenic deletion
--
1
--
22

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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