The self-excising tACE-CRE-neo cassette replaced exons 1b, 2, 3, and 9 amino acids of exon 4. This sequence encodes all three active site His residues in the 146 amino acids of the protein that immediately follow the signal sequence. The resulting frameshift produced an early termination in exon 4. Absence of transcript was confirmed by RT-PCR of mutant brain, heart, kidney and muscle. Western blot analyses of the same tissues did not detect protein. (J:103742)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S1/Sv-Oca2+ Tyr+ KitlSl-J/J
Targeted
Insertion, Intragenic deletion
--
1
3
11

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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