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The insertion comprises mouse BAC RP23-425D18 where the sequence from the 3' end of exon 5 through the 5' end of exon 7 of Snrpn and upstream exons U1, U2, and U3 were deleted. The BAC contains the entire Snrpn gene plus 70 kb downstream and 100 kb upstream sequence, which includes six Snrpn upstream exons (U1, U2, U3, alpha, beta, gamma). This allele, which has a single copy integrated, lost the endogenous imprinting profile of the Snrpn DMR. (J:332846)
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
