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Snrpntm3Alb
Targeted Allele Detail
Nomenclature
Symbol: Snrpntm3Alb
Name: small nuclear ribonucleoprotein N; targeted mutation 3, Arthur L Beaudet
MGI ID: MGI:2384045
Gene: Snrpn  Location: Chr7:59982495-60140219 bp, - strand  Genetic Position: Chr7, 34.04 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:56617
Parent Cell Line:  AB2.2 (ES Cell)
Strain of Origin:  129S7/SvEvBrd-Hprtb-m2
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsA 6 kb region of the gene encompassing exon 2 was replaced with an HPRT-loxP-neo cassette via homologous recombination resulting in deletion of 32 amino acids from the smaller of 2 open reading frames. The larger downstream open reading frame remains intact. RT-PCR analysis of heterozygous mutant animals showed expression of only wild-type transcripts in mice carrying a maternally derived mutation, and in mice carrying a paternally derived mutation the mutant transcript and transcripts of the neo gene are expressed. The deletion does not affect maternal-paternal imprinting of the DNA. (J:56617)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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:  5 strains or lines available
References
Original:  J:56617 Tsai TF, et al., Paternal deletion from Snrpn to Ube3a in the mouse causes hypotonia, growth retardation and partial lethality and provides evidence for a gene contributing to Prader-Willi syndrome. Hum Mol Genet. 1999 Aug;8(8):1357-64
All:  4 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
02/18/2020
MGI 6.14
The Jackson Laboratory