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BAC clone RP23-248M20 containing the mouse Zfhx2 was modified to contain an arginine to lysine substitution at amino acid 1907 (AGG to AAG). This corresponds to the human p.R1913K mutation identified in a family with Marsili syndrome. The pound symbol (#) is used when line is not specified and/or lines are pooled. (J:266472)
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 |
|---|
References Literature
Title
PMID
Journal
Year
IF
