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| Nomenclature |
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Symbol:
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Snrpntm2Alb
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Name:
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small nuclear ribonucleoprotein N;
targeted mutation 2, Arthur L Beaudet
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MGI ID: |
MGI:2384039 |
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Synonyms: |
PW-ICdelta4.8 |
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Gene:
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Snrpn
Location:
Chr7:59982495-60005111 bp, - strand
Genetic Position: Chr7,
34.04 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:70275
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Parent Cell Line:
| AB2.2 (ES Cell) |
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Strain of Origin:
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129S7/SvEvBrd-Hprtb-m2
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: A 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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Snrpn Mutation:
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7 strains or lines available |
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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.
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| References |
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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
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All: |
3 reference(s)
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Analysis Tools
