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The mouse promoter was used to drive zinc-inducible expression of the human cDNA with a point mutation that results in the amino acid substitution of threonine for isoleucine at position 278. This mutation was identified in patients with CBS deficiency. Three lines were created with no line numbers given. (J:105060)
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
