A 7 bp deletion occurs in this ENU mutant in exon 13. This results in a frame shift that changes the last 12 amino acid residues and adds an additional 25 amino acids. The C-terminal sumoylated Lysine at position 476 is lost. (J:142335)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
FVB/N
Chemically induced
Intragenic deletion
Semidominant
1
--
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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