Two missense mutations in the sequences encoding the forkhead domain were shown to co-segregate with the dyl phenotype: two C-to-T transitions at coding nucleotides 277 and 293 that change codons 93 and 98 from phenylalanine to leucine and serine respectively (p.F93L, p.F98S). These mutations are in a region of the protein thought to be critical for DNA binding. (J:59880)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
BALB/cLiA
Spontaneous
Single point
Recessive
1
7
8

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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