This ENU mutant is likly an A-to-T transition that alters the isoleucine at amino acid 86 (which is conserved in the paired box in the paired box of all known paired domain proteins) to an asparagine in the Pax3 gene of 22-1 mutants. Complementation testing was not performed to verify. (J:163657)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
Recessive
--
--
1

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

References Literature

Title
PMID
Journal
Year
IF
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