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Exons 3-9 of the Hprt minigene, a loxP site and a puromycin resistance gene cassette were inserted 13 kb upstream of exon 1. The mutation also included a 6 kb genomic duplication of the 7-13 kb upstream sequence. Maternal inheritance of this allele leads to Snrpn imprinting defects, leaving the maternal Snrpn allele unmethylated. (J:105289)
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
