Exon 14 was disrupted by the insertion of a neomycin cassette. Sequence analysis of truncated transcript identified by Northern analysis, showed that an aberrant splice pattern resulted in the excision of exon 14. The joining of exons 13 and 15 resulted in a frameshift mutation which introduced a stop codon in exon 15, upstream of an essential peroxisomal targeting signal. Western analysis revealed an absence of normal protein in the livers of homozygous mutant mice. (J:47280)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd
Targeted
Insertion
--
1
1
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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