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| Nomenclature |
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Symbol:
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Snrpntm2Cbr
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Name:
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small nuclear ribonucleoprotein N;
targeted mutation 2, Camilynn I Brannan
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MGI ID: |
MGI:2155245 |
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Synonyms: |
deltaPWS-IC, IC deletion, PWS-ICdel, PWS-ICdel35kb, PWS-IC deletion |
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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:47318
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Parent Cell Line:
| Other (see notes) (ES Cell) |
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Strain of Origin:
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129S/Sv
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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 PGK-neomycin resistance cassette replaced 35kb of sequence encompassing 16kb upstream of the gene and exons 1-6. The portion of the targeted locus including the neo gene and 5' sequences was amplified four fold in the targeted allele. Northern blot analysis of brain tissue using a cDNA probe for the gene did not detect any transcript in heterozygous mutant mice. (J:47318, J:61887, J:69578)
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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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Notes |
ES cell line = CJ7 or J4. In J:47318 CJ7 male ES cells were used. All offspring generated from crosses of these chimeras to C57BL/6 females died by postnatal day 7. In J:61887 the same targeting vector was used in CJ7 (male) and J4 (female, XO) ES cells. It is unclear which of these targeting events was used to generate the line of mice used in subsequent papers as both parental inheritence of the allele and strain background influence the survival of offspring.
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| References |
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Original: |
J:47318
Yang T et al.,
"A mouse model for Prader-Willi syndrome imprinting-centre mutations."
Nat Genet 1998 May;19(1):25-31
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All: |
11 reference(s)
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Analysis Tools
