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This allele harbors a frameshifting C duplication homologous to a reported case of human incontinentia pigmenti ("XL344-04", NM_001099857.3:c.1167dup). The mouse model reproduces the associated truncating mutation and adds, 5' in-frame, an EGFP open-reading frame. Expression of EGFP has been confirmed in embryonic fibroblasts. (J:94077)
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
