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This mutation, discovered in an in vivo CpG challenge screen of progeny of an ENU mutagenized male mouse, comprises a G to A transition at nucleotide position 3188, in the second and last exon of the gene, that results in replacement of glycine by arginine at amino acid position 1028 of the receptor protein (Q1028R). (J:86521, J:147856)
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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References Literature
Title
PMID
Journal
Year
IF
