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The locus was replaced with a neo cassette and an open reading frame containing a nucleotide substitution that resulted in an amino acid substitution of a threonine for an isoleucine at position 130 (I130T). This amino acid substitution is responsible for oculodentodigtal dysplasia in humans. (J:130575)
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
