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EN
A single G-to-A point transition at chromosome 7 position 49,917,609 (GRCm38/mm10) causes the codon change of atG to atA resulting in the change of methionine to isoleucine in a transmembrane domain, p.M278I in NP_001139485.1 and p.M2701I in NP_683733.2. (J:222308, J:235637)
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
