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Complemetation testing demonstrated allelism between this mutation and Adamts20bt-Bei1. Sequence analysis identified the molecular lesion as a a C-to-T transition at nucleotide position 2451 (NM_177431.5:c.2281C>T), which is predicted to replace a highly-conserved leucine in the protein's spacer domain with phenylalanine (L761F). (J:133403)
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
