A stop codon was introduced into the 13th exon as a result of a neo insertion. The final 49 amino acids of the long isoform should not be translated without altering expression of the short isoform. The putative protein of the long isoform is four amino acids shorter than the wild-type short isoform. Western blot revealed lack of protein of the wild-type long isoform in mutants. Protein of the short isoform was present, however at ~50% of wild-type levels. Northern blot revealed double bands in mutant mice, suggesting that the polyA site of the neo is being used to prematurely truncate the transcript, resulting in two bands with different 3' ends. (J:46770)

Basic Information

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

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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