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A sequence variant is identified in C57BL/6J (T) as compared to C57BL/6N (C) at position 3,222,537 (GRCm38). The polymorphism is located in the C-terminal leucine-rich repeat domain and results in an arginine to lysine change at amino acid residue 1034 (p.R1034K). (J:220417)
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
