Exon 5 was replaced with one in which nucleotide substitutions result in the amino acid substitution of glutamic acid for aspartic acid at position 553 (D553E). This allele is expected to produce a SUMOylation-deficient protein. A floxed lacZ-neo cassette inserted downstream of the modified exon 5 was removed by cre-mediated recombination. (J:167521)

Basic Information

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

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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