A neomycin resistance gene cassette replaced 42 kb of sequence encompassing 23 kb upstream of the gene and Snrpn exons 1-6. Unintentionally, the neo gene and several kb of flanking endogenous sequence (from upstream of Snrpn) was amplified four-fold at the insertion site. Northern blot analysis of brain tissue using a cDNA probe for the gene did not detect any transcript in heterozygous mutant mice. The deleted upstream sequence includes Prader-Willi syndrome imprinting center PWS-IC Rr346 and Angelman syndrome imprinting center AS-IC Rr70. (J:47318, J:61887, J:69578)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S/Sv
Targeted
Insertion, Intragenic deletion
--
1
6
17

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
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