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EN
A G-to-A point mutation at coding nucleotide 1159/1954/1984 of the cDNA (NM_080465/ENSMUST00000066890/NM_001312905) results in a valine to isoleucine substitution at position 387/652/662 of the encoded protein (NP_536713:p.V387I, ENSMUSP00000067884:p.V652I, NP_001299834:p.V662I). (J:222308)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
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 |
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References Literature
Title
PMID
Journal
Year
IF
