Snrpn^tm1Cbr
Targeted Allele Detail

Summary

• Symbol: Snrpn^tm1Cbr
• Name: small nuclear ribonucleoprotein N; targeted mutation 1, Camilynn I Brannan
• MGI ID: MGI:2155244
• Gene: Snrpn Location: Chr7:59632243-59789967 bp, - strand Genetic Position: Chr7, 34.04 cM
• Alliance: Snrpn^tm1Cbr page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:47318
• Parent Cell Line: CJ7 (ES Cell)
• Strain of Origin: 129S1/Sv-Oca2⁺ Tyr⁺ Kitl⁺

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A PGK-neomycin resistance cassette inserted into the paternally derived maternal gene replaced 0.27kb of coding sequence including exon 6 and portions of exons 5 and 7. Northern blot analysis of heterozygous ES cells using a cDNA probe for exons 7-10 detected a fusion transcript produced by the disrupted allele that is larger than the wild-type transcript. Northern blot analysis of brain tissue from heterozygous mutant mice using a neo probe also detected the larger transcript, and did not detect any transcript using a probe for the deleted sequences. Immunoblot analysis using human antisera did not detect protein in brain from heterozygous mutant mice. (J:47318)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Snrpn Mutation: 23 strains or lines available

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: 4 reference(s)