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EN
This allele is the result of a spontaneous missense mutation of a C to A change at position 613 (c.613C>A) producing a glutamine to lysine exchange at amino acid 205 (p.Q205K) but reported as p.Q177K in the extracellular Beta8-Beta9 loop of the alpha1 subunit. This spontaneous mutation arose in the animal colony of Christopher Paige in a mixed 129 and C57BL/6 strain. (J:248717)
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
