A T-to-C mutation results in a serine to proline substitution at position 83 (p.S83P) within the alpha1 helix in the homeodomain of the encoded peptide. (J:36967)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Goodale large mice x pink-eyed stock
Spontaneous
Single point
Recessive
1
5
123

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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