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The mutation corresponds to a C-to-T transition at nucleotide position 850 of the gene (Genbank: NM_053077), in the third of 7 exons, resulting in replacement of codon 252, specifying glutamine, by a stop codon (Q252Ter). This is predicted to terminate the protein before the seventh transmembrane domain. (J:133629)
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
