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A 0.6 kb segment of the gene containing exons 7 and 8 was replaced with a neo resistance cassette via homologous recombination resulting in elimination of a catalytically significant cysteine. Unexpected banding patterns were observed in Southern blot analysis of homozygous mutant animals and may be the result of integration of an aberrantly ligated targeting vector. Homozygous mutant animals lacked enzyme activity as demonstrated by enzyme staining assays of brain extracts. (J:27221)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
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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References Literature
Title
PMID
Journal
Year
IF
