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Targeted Allele Detail
Symbol: Snrpntm1Cbr
Name: small nuclear ribonucleoprotein N; targeted mutation 1, Camilynn I Brannan
MGI ID: MGI:2155244
Gene: Snrpn  Location: Chr7:59982495-60005111 bp, - strand  Genetic Position: Chr7, 34.04 cM
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 detailsA 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 for all genotypes (concatenated display).
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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:  13 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)

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MGI 6.06
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