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A point mutation was made in the Ank gene contained within Tg(282M13)1Kng converting a glycine to a arginine at amino acid position 389. This mutation is commonly found in craniometaphyseal dysplasia (CMD) patients and has little to no PPi-transport activity in vitro. (J:122441)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
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
