Summary | Mutation origin | Mutation description | Phenotypes | Find Mice (IMSR) | References

Symbol:	Snrpntm1Cbr
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:	Snrpntm1Cbr page

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

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)

View phenotypes and curated references for all genotypes (concatenated display).

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

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)