A PGK-neo cassette was inserted to delete a region spanning from the middle of exon 3 through exon 6. This deleted region encodes the essential homocysteine binding domain. Reduced levels of transcript were observed in extracts from the liver and kidney of heterozygous mutant mice. Enzyme activity levels in heterozygotes were found to be approximately 60% of wild-type. (J:67384)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S/SvEv
Targeted
Disruption caused by insertion of vector
--
1
3
3

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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