The striated muscle-specific exons 12 and 13 were replaced with an HPRT cassette in the reverse orientation. While the targeting construct was designed to knock-out the striated muscle isoform, the targeted allele is null. Interestingly, heterozygotes exhibit normal protein levels, despite a ~50% reduction in mRNA levels and absence of compensation by the striated muscle beta or the slow skeletal alpha isoforms, suggesting that a compensatory mechanism may operate at the translational level. (J:45833)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd
Targeted
Insertion, Intragenic deletion
--
1
7
2

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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