Cre-mediated recombination removed exon 3. RT-qPCR confirmed absence of transcripts encoding exons 2 and 3, however transcripts encoding exons 13 and 14 are produced. Western blot analysis indicates that protein is produced and that this is a hypmorphic allele resulting from expression of an N-terminally truncated protein initiated in exon 4. (J:178429, J:213829)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S1/SvImJ or C57BL/6J
Targeted
Insertion, Intragenic deletion
--
1
5
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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