Snrpn^tm1Rsnk
Targeted Allele Detail

Summary

• Symbol: Snrpn^tm1Rsnk
• Name: small nuclear ribonucleoprotein N; targeted mutation 1, James Resnick
• MGI ID: MGI:3617823
• Synonyms: PWS-IC^Hs, Snrpn^tm1Kaj, Snrpn^{tm1(SNRPN)Rsnk}
• Gene: Snrpn Location: Chr7:59632243-59789967 bp, - strand Genetic Position: Chr7, 34.04 cM
• Alliance: Snrpn^tm1Rsnk page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:105412
• Parent Cell Line: CJ7 (ES Cell)
• Strain of Origin: 129S1/Sv-Oca2⁺ Tyr⁺ Kitl⁺

Mutation description

• Allele Type: Targeted (Not Specified)
• Mutation: Insertion
• Mutation details: The Pradar-Willi syndrome imprinting center (PWS-IC), including exon 1, was replaced with the human exon 1 and the shortest region of deletion overlap (PWS-SRO). Transcripts resulted from the human promoter, as expected. (J:105412)

Disease models

Expression

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: 0 strains available Cell Lines: 0 lines available
• Carrying any Snrpn Mutation: 23 strains or lines available

References

• Original: J:105412 Johnstone KA, et al., A human imprinting centre demonstrates conserved acquisition but diverged maintenance of imprinting in a mouse model for Angelman syndrome imprinting defects. Hum Mol Genet. 2006 Feb 1;15(3):393-404
• All: 5 reference(s)