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EN
ENU mutagenesis induced an A to C point mutation that results in the amino acid substitution of serine for tyrosine at position 1391 (Y1391S). This mutation is present in patients with platyspondylic lethal skeletal dysplasia, Torrance type (PLSD-T). (J:260538)
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
