The targeting event deleted a large segment of exon 5 that encodes amino acids 154-212 of the protein, including all but four amino acids comprising the F box and 22 downstream amino acids. The neomycin resistance gene is inserted in reverse orientation, and stop codons occur in all three reading frames within exon 5 following codon 153. The splice acceptor site of exon 5 is intact, and exons 6 and 7 are both out of frame with exon 4. No expression was detected in homozygous mutant mouse embryonic fibroblasts or other tissues examined by Northern blot analysis or by immunoprecipitation followed by immunoblot analysis. (J:93010)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S2/SvPas
Targeted
Insertion, Intragenic deletion
--
1
1
4

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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