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This spontaneous A-to-T transversion at position Chr11:50851337 (GRCm38) results in a missense mutation at position 66, changing methionine to leucine (p.M66L). This residue lies in the glutamate binding region and is invariant across many mammals including human. (J:240996)
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
