In frame insertion of a lacZ-PGK-neomycin resistance cassette into exon 1 disrupted the gene. Northern blot analyses of skeletal muscle using a 3' exon 1 cDNA probe and using an exon 4-9 cDNA probe did not detect transcript in homozygous mutant mice. Western blot analysis did not detect protein in limb muscle from homozygous mutant mice. Immunocytochemical studies of skeletal, smooth, and cardiac muscle did not detect protein in homozygous mutant mice. (J:32928)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S2/SvPas
Targeted
Insertion
--
1
9
33

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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