Snrpn^tm2Cbr
Targeted Allele Detail

Summary

• Symbol: Snrpn^tm2Cbr
• Name: small nuclear ribonucleoprotein N; targeted mutation 2, Camilynn I Brannan
• MGI ID: MGI:2155245
• Synonyms: deltaPWS-IC, IC deletion, PWS-IC^del, PWS-IC^del35kb, PWS-IC deletion
• Gene: Snrpn Location: Chr7:59632243-59789967 bp, - strand Genetic Position: Chr7, 34.04 cM
• Alliance: Snrpn^tm2Cbr page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:47318
• Parent Cell Line: Other (see notes) (ES Cell)
• Strain of Origin: 129S/Sv

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: 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)

Disease models

Expression

In Mice Carrying this Mutation:	4 assay results 1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	2 anatomical structure(s)

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: 23 strains or lines available

Notes

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.

References

• 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: 19 reference(s)