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Snrpntm1Kaj
Targeted Allele Detail
Nomenclature
Symbol: Snrpntm1Kaj
Name: small nuclear ribonucleoprotein N; targeted mutation 1, Karen A Johnstone
MGI ID: MGI:3617823
Synonyms: PWS-ICHs
Gene: Snrpn  Location: Chr7:59982495-60005111 bp, - strand  Genetic Position: Chr7, 34.04 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:105412
Parent Cell Line:  CJ7 (ES Cell)
Strain of Origin:  129S1/Sv-Oca2+ Tyr+ Kitl+
Mutation
description
Allele Type:    Targeted
Mutation:    Insertion
 
Mutation detailsThe 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 2 anatomical structures
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:  14 strains or lines available
References
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
All:  4 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/12/2018
MGI 6.12
The Jackson Laboratory