A point mutation in exon 32 introduced an amino acid substituation of serine for cysteine at position 1229 (C1229S). This mutation results in an abrogation of catalytic activity. Additionally, an IRES-betageo cassette was inserted into an intron upstream of the point mutation and was subsequently removed by cre-mediated recombination. Expression of the full-length protein was confirmed by western blot analysis on embryonic stem cell extracts. (J:129049)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S4/SvJae
Targeted
Nucleotide substitutions
--
1
2
2

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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