A neomycin resistance cassette replaced exon 9, which encodes the C-terminal tail sequence. Splicing resulted in addition of 23 extraneous amino acids following exon 8 sequence. The absence of exon 9 was confirmed by sequencing. The floxed neomycin cassette was excised in vivo by Cre mediated recombination. Western blot analysis using extracts from the cerebellum showed that the total protein expression levels were similar to wild-type mice. ELISA showed a two-fold reduction of soluble protein levels in the plasma. (J:157170)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S1/Sv-Oca2+ Tyr+ Kitl+
Targeted
Insertion, Intragenic deletion
--
1
8
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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