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| Nomenclature |
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Symbol:
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Snrpntm1Kaj
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Name:
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small nuclear ribonucleoprotein N;
targeted mutation 1, Karen A Johnstone
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MGI ID: |
MGI:3617823 |
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Synonyms: |
PWS-ICHs |
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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:105412
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Parent Cell Line:
| CJ7 (ES Cell) |
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Strain of Origin:
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129S1/Sv-Oca2+ Tyr+ Kitl+
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutation: | |
Insertion |
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Mutation details: The Pradar-Willi syndrome imprinting center (PWS-IC), including exon 1, was replaced with the human exon 1 and the shortest region of deletion overlap (PWS-SRO). Transcripts resulted from the human promoter, as expected. (J:105412)
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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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| References |
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Original: |
J:105412
Johnstone KA et al.,
"A human imprinting centre demonstrates conserved acquisition but diverged maintenance of imprinting in a mouse model for Angelman syndrome imprinting defects."
Hum Mol Genet 2006 Feb 1;15(3):393-404
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All: |
3 reference(s)
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Analysis Tools
