A neomycin cassette was inserted into exon 3 (codon 40 of the 439 codon reading frame) of the gene. This insertion truncated the peptide 13 amino acid residues downstream of the cleavage site for the N-terminal mitochondrial targeting sequence. Southern blots showed production of a truncated protein in mutant mice, and functional assasys showed lack of enzymatic activity of the truncated protein. (J:29269)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S7/SvEvBrd-Hprt1+
Targeted
Insertion
--
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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