A floxed pgk-neo cassette was inserted in intron 2 and a Cys98stop nonsense mutation was inserted in exon 2 via homologous recombination. The floxed neo cassette was then removed by Cre mediated recombination. Immunohistochemical analysis detected expression of a mutant protein in the supraoptic nucleus, the suprachiasmatic nuclei, and the paraventricular nucleus in homozygous and heterozygous mice. This analysis also confirmed the absence of wild-type protein expression in homozygous mice. (J:147993)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Targeted
Insertion, Nucleotide substitutions
--
1
2
5

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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