4.0 kb of sequence, including the first coding exon (exon 2), was deleted and replaced with a neomycin selection cassette. Northern blot and RT-PCR analyses detected aberrantly spliced transcript, in which exon 1 had spliced directly to exon 3, in homozygous mutant mice. Protein encoded from the aberrant transcript was undetected via Western blot analysis. (J:62312)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S6/SvEvTac
Targeted
Insertion, Intragenic deletion
--
1
2
19

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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