A deletion of a guanine residue introduced a frameshift mutation affecting amino acids downstream of 313. Translation was prematurely stopped at codon 435. The deleted nucleotide was reported as nucleotide 959 in J:61488, 970 in J:74211, and nucleotide 937 in J:83731. (J:61488, J:74211, J:83731)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C3H/HeSnJ
Spontaneous
Intragenic deletion
Semidominant
1
2
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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