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EN
Exon 9 was replaced with one in which nucleotide substitutions result in the amino acid substitution of cysteine for tyrosine at position 367 (Y367C). This mutation was corresponds to the Y373C mutation in human patients with thanatophoric dysplasia type I and causes ligand independent activation of the receptor. A floxed neo was inserted downstream of exon 9. (J:147208)
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
