A T-to-G transversion causes a phenylalanine to cysteine substitution in position 168 ( amino-acid 20 of helix 1 of the homeodomain) (p.F168C). This allele is hypomorphic. (J:91405)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Swiss albino stock
Spontaneous
Single point
Recessive
1
--
5

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

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PMID
Journal
Year
IF
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