The molecular lesion is a single G deletion at coding nucleotide 273 in exon 3 of the gene. The mutation causes a frameshift at the 91st amino acid and disrupt the 3rd and 4th Greek-key motifs of the encoded protein, producing a mutant protein with an unrelated peptide of 75 amino acids at the C-terminus. (J:250425)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
FVB/NJ
Spontaneous
Intragenic deletion
--
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:
Show/Hide columns
Phenotypes

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
Wechat
Comparison
Al agent
Tutorials
Back to top