Exon 3 was replaced with a neomycin resistance gene, allowing ablation of both short and long isoforms. Transcription is still possible from the endogenous promoter, however, protein translation is terminated after the first 14 amino acids, thereby removing all of the functional domains. Western blot failed to detect protein in various tissues of mutants. (J:104446)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd
Targeted
Insertion, Intragenic deletion
--
1
4
7

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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