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This transgene consists of BAC DNA 16652 containing the full-length mouse myocilin with a Tyr423His point mutation (T to C in codon 423) as well as 20 and 85.5 kb of the 5'-flanking and 3'-flanking sequences. This mutation corresponds to the severe glaucoma-causing Tyr437His mutation in human. Several lines were generated, however one line containing 2-3 copies of the mutated gene was used for analysis. The pound symbol (#) is used when line is not specified. (J:116124)
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
