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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 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:  7 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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