A G-to-A point mutation at coding nucleotide 599/1394/1424 of the transcript (NM_080465/ENSMUST00000066890/NM_001312905) is predicted to result in premature truncation at tryptophan 200/465/475 of the encoded protein (NP_536713:p.W200*, ENSMUSP00000067884:p.W465*, NP_001299834:p.W475*). (J:222308)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C3H/HeSn
Spontaneous
Single point
Recessive
1
3
2

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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