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The Pax1 mutation is a T to A transversion at base pair 147,365,802 (v38) on chromosome 2, or base pair 3,878 in the GenBank genomic region NC_000068. The mutation results in an isoleucine (I) to asparagine (N) substitution at position 110 (I110N) in the protein. (J:224656)
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
