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Targeted Allele Detail
Symbol: Snrpntm2Alb
Name: small nuclear ribonucleoprotein N; targeted mutation 2, Arthur L Beaudet
MGI ID: MGI:2384039
Synonyms: del4.8, PW-ICdelta4.8
Gene: Snrpn  Location: Chr7:59982495-60005111 bp, - strand  Genetic Position: Chr7, 34.04 cM
Germline Transmission:  Earliest citation of germline transmission: J:70275
Parent Cell Line:  AB2.2 (ES Cell)
Strain of Origin:  129S7/SvEvBrd-Hprtb-m2
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
Mutation detailsA 4.8 kb region of the gene encompassing exon 1 was replaced with a floxed tk-neo cassette via homologous recombination. The tk-neo cassette was removed by transient expression of cre recombinase in correctly targeted ES cells. Mutant animals were identified by Southern blot analysis. Northern blot analysis using a probe complementary to downstream exons showed significantly reduced gene expression in animals carrying the mutation on a paternally derived chromosome, but not when the animals carried the mutation on a maternally derived chromosome. (J:70275)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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:  14 strains or lines available
Animals carrying the mutation on a paternally derived chromosome exhibit severe growth retardation and 40%-45% die before weaning. Animals carrying the mutation on a maternally derived chromosome develop normally.
Original:  J:70275 Bressler J, et al., The SNRPN promoter is not required for genomic imprinting of the Prader-Willi/Angelman domain in mice. Nat Genet. 2001 Jul;28(3):232-40
All:  5 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.11
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