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Targeted Allele Detail
Symbol: Snrpntm2Cbr
Name: small nuclear ribonucleoprotein N; targeted mutation 2, Camilynn I Brannan
MGI ID: MGI:2155245
Synonyms: deltaPWS-IC, IC deletion, PWS-ICdel, PWS-ICdel35kb, PWS-IC deletion
Gene: Snrpn  Location: Chr7:59982495-60140219 bp, - strand  Genetic Position: Chr7, 34.04 cM
Germline Transmission:  Earliest citation of germline transmission: J:47318
Parent Cell Line:  Other (see notes) (ES Cell)
Strain of Origin:  129S/Sv
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
Mutation detailsA PGK-neomycin resistance cassette replaced 35kb of sequence encompassing 16kb upstream of the gene and exons 1-6. The portion of the targeted locus including the neo gene and 5' sequences was amplified four fold in the targeted allele. Northern blot analysis of brain tissue using a cDNA probe for the gene did not detect any transcript in heterozygous mutant mice. (J:47318, J:61887, J:69578)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Mice Carrying this Mutation: 4 assay results
In Structures Affected by this Mutation: 2 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Snrpn Mutation:  6 strains or lines available
ES cell line = CJ7 or J4. In J:47318 CJ7 male ES cells were used. All offspring generated from crosses of these chimeras to C57BL/6 females died by postnatal day 7. In J:61887 the same targeting vector was used in CJ7 (male) and J4 (female, XO) ES cells. It is unclear which of these targeting events was used to generate the line of mice used in subsequent papers as both parental inheritence of the allele and strain background influence the survival of offspring.
Original:  J:47318 Yang T, et al., A mouse model for Prader-Willi syndrome imprinting-centre mutations. Nat Genet. 1998 May;19(1):25-31
All:  16 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
MGI 6.16
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