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Exon 2 of Ube3a was replaced with a Puro-loxP-HPRT cassette via homologous recombination in ES cells carrying an upstream targeted mutation Snrpntm3Alb. Deletion of genomic DNA from the loxP site within Snrpn to the loxP site within Ube3a was carried out by transient expression of cre recombinase in correctly targeted ES cells. Homozygous mutant embryos were identified by Southern blot analysis. (J:56617)
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
