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The mutation was identified as C to T substitution in exon 6, nucleotide position 469. The resulting protein has a Gln to Stop substitution at amino acid position 103. The mutation resides in the paired box region of the protein. The paired box domain, linker region, homeodomain, and P/S/T domains are all deleted in the resulting protein. (J:73625)
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
