Snrpn^tm2Alb
Targeted Allele Detail

Summary

• Symbol: Snrpn^tm2Alb
• Name: small nuclear ribonucleoprotein N; targeted mutation 2, Arthur L Beaudet
• MGI ID: MGI:2384039
• Synonyms: del^4.8, PW-IC^delta4.8
• Gene: Snrpn Location: Chr7:59632243-59789967 bp, - strand Genetic Position: Chr7, 34.04 cM
• Alliance: Snrpn^tm2Alb page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:70275
• Parent Cell Line: AB2.2 (ES Cell)
• Strain of Origin: 129S7/SvEvBrd-Hprt1^b-m2

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A 4.8 kb region of the gene encompassing exon 1 was replaced with a loxP site flanked neomycin resistance gene cassette. The neo cassette was removed by transient expression of cre recombinase in correctly targeted ES cells. 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)

Disease models

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

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: 23 strains or lines available

Notes

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.

References

• 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)