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This allele represents five point mutations that are found in the PWD and PWK strains: chrX:g.69544913A>G (variant of SNP rs13483811; changes codon 229 from threonine to alanine (p.T229A)), 69830745C>T (major variant of SNP rs29044836; changes codon 432 from proline to serine (p.P432S)), 69830760C>G (minor variant of SNP rs29044835; changes codon 437 from proline to alanine (p.P437A)), 69830782A>T (minor variant of SNP rs29044834; changes codon 444 from glutamine to leucine (p.Q444L)) and 69834780G>A (novel SNP; changes codon 724 from serine to asparagine (p.S724N)) (GRCm38 coordinates). (J:292550)
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
