The mutation was identified as a 7 bp insertion at nucleotide position 896. The insertion causes a frameshift mutation that results in a truncated protein at amino acid position 350. The resultant protein lacks the C-terminal SAM domain. (J:82022)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C3H/He
Spontaneous
Insertion
Recessive
1
4
4

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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